Variant report

Variant	esv1821734
Chromosome Location	chr11:63533300-63537509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:63534499-63534607	HepG2	liver:	n/a	n/a
2	BACH1	chr11:63536471-63536586	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr11:63535604-63536072	GM12878	blood:	n/a	chr11:63535839-63535852 chr11:63535889-63535902 chr11:63535629-63535638 chr11:63535802-63535815 chr11:63535712-63535725 chr11:63535714-63535727
4	BHLHE40	chr11:63535284-63536038	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:63535794-63535909	K562	blood:	n/a	n/a
6	BHLHE40	chr11:63535076-63535483	K562	blood:	n/a	n/a
7	BHLHE40	chr11:63536655-63536659	K562	blood:	n/a	n/a
8	BRCA1	chr11:63535795-63535974	HepG2	liver:	n/a	n/a
9	BRCA1	chr11:63537437-63537555	HepG2	liver:	n/a	n/a
10	BRCA1	chr11:63535163-63535441	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr11:63535586-63536997	K562	blood:	n/a	chr11:63536360-63536369 chr11:63535628-63535637 chr11:63536844-63536853
12	CEBPB	chr11:63535895-63535896	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr11:63535463-63535984	HepG2	liver:	n/a	n/a
14	CEBPD	chr11:63535616-63535938	HepG2	liver:	n/a	n/a
15	CHD1	chr11:63535216-63535437	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr11:63535189-63535592	GM12878	blood:	n/a	n/a
17	CHD1	chr11:63535798-63535973	GM12878	blood:	n/a	n/a
18	CHD1	chr11:63535762-63535897	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:63535784-63535830	HepG2	liver:	n/a	n/a
20	CHD2	chr11:63535756-63536052	K562	blood:	n/a	n/a
21	CHD2	chr11:63536271-63536878	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr11:63535779-63536016	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr11:63535723-63536058	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr11:63535797-63536051	GM12878	blood:	n/a	n/a
25	CREB1	chr11:63535622-63536015	A549	lung:	n/a	n/a
26	CTBP2	chr11:63535241-63535932	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:63535760-63535910	HepG2	liver:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
28	CTCF	chr11:63536389-63536450	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:63536340-63536490	HepG2	liver:	n/a	n/a
30	CTCF	chr11:63536280-63536430	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr11:63535725-63535898	HepG2	liver:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
32	CTCF	chr11:63536200-63536350	HCM	heart:	n/a	n/a
33	CTCF	chr11:63536340-63536490	K562	blood:	n/a	n/a
34	CTCF	chr11:63536340-63536490	GM12866	blood:	n/a	n/a
35	CTCF	chr11:63536377-63536497	GM12891	blood:	n/a	n/a
36	CTCF	chr11:63535760-63535910	NHEK	skin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
37	CTCF	chr11:63535694-63535935	ProgFib	skin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
38	CTCF	chr11:63535740-63535890	SK-N-SH_RA	brain:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
39	CTCF	chr11:63536260-63536410	Caco-2	colon:	n/a	n/a
40	CTCF	chr11:63536340-63536490	GM12869	blood:	n/a	n/a
41	CTCF	chr11:63536320-63536470	GM12878	blood:	n/a	n/a
42	CTCF	chr11:63537240-63537390	GM12873	blood:	n/a	chr11:63537262-63537275
43	CTCF	chr11:63535740-63535890	HA-sp	spinal cord:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
44	CTCF	chr11:63535740-63535890	WERI-Rb-1	eye:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
45	CTCF	chr11:63536960-63537110	SAEC	small airway:	n/a	n/a
46	CTCF	chr11:63535636-63535987	GM12892	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
47	CTCF	chr11:63535668-63535670	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:63535760-63535910	SAEC	small airway:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
49	CTCF	chr11:63535440-63535590	GM12873	blood:	n/a	n/a
50	CTCF	chr11:63535700-63535850	GM12868	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63533656-63533706	ovcar-3	ovarian:	n/a
2	chr11:63535821-63535871	BJ	skin:	n/a
3	chr11:63533656-63533706	HepG2	liver:	n/a
4	chr11:63536855-63536905	HCPEpiC	choroid plexus:	n/a
5	chr11:63537459-63537509	HRE	kidney:	n/a
6	chr11:63537459-63537509	PANC-1	pancreas:	n/a
7	chr11:63536330-63536380	HRE	kidney:	n/a
8	chr11:63535358-63535408	HMEC	breast:	n/a
9	chr11:63535358-63535408	SK-N-MC	brain:	n/a
10	chr11:63537378-63537428	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:63533656-63533706	HL-60	blood:	n/a
12	chr11:63536855-63536905	NH-A	brain:	n/a
13	chr11:63533656-63533706	NH-A	brain:	n/a
14	chr11:63537378-63537428	NH-A	brain:	n/a
15	chr11:63537378-63537428	HRE	kidney:	n/a
16	chr11:63533656-63533706	ECC-1	luminal epithelium:	n/a
17	chr11:63536855-63536905	HRPEpiC	eye:	n/a
18	chr11:63535358-63535408	A549	lung:	n/a
19	chr11:63535821-63535871	PANC-1	pancreas:	n/a
20	chr11:63537459-63537509	MCF10A-Er-Src	breast:	n/a
21	chr11:63537378-63537428	SKMC	muscle:	n/a
22	chr11:63537459-63537509	ovcar-3	ovarian:	n/a
23	chr11:63535821-63535871	Hela-S3	cervix:	n/a
24	chr11:63535358-63535408	MCF-7	breast:	n/a
25	chr11:63535821-63535871	SAEC	small airway:	n/a
26	chr11:63536330-63536380	HUVEC	blood vessel:	n/a
27	chr11:63533656-63533706	HMEC	breast:	n/a
28	chr11:63533656-63533706	PrEC	prostate:	n/a
29	chr11:63536855-63536905	SAEC	small airway:	n/a
30	chr11:63537378-63537428	Caco-2	colon:	n/a
31	chr11:63535358-63535408	ProgFib	skin:	n/a
32	chr11:63537459-63537509	U87	brain:	n/a
33	chr11:63536330-63536380	NHDF-neo	bronchial:	n/a
34	chr11:63535821-63535871	GM06990	blood:	n/a
35	chr11:63535358-63535408	GM12892	blood:	n/a
36	chr11:63535358-63535408	Caco-2	colon:	n/a
37	chr11:63536330-63536380	LNCaP	prostate:	n/a
38	chr11:63533656-63533706	BE2_C	brain:	n/a
39	chr11:63536855-63536905	HMEC	breast:	n/a
40	chr11:63536330-63536380	AG04450	lung:	fetal
41	chr11:63535358-63535408	PANC-1	pancreas:	n/a
42	chr11:63535358-63535408	K562	blood:	n/a
43	chr11:63535821-63535871	HRE	kidney:	n/a
44	chr11:63536855-63536905	NHDF-neo	bronchial:	n/a
45	chr11:63533656-63533706	MCF10A-Er-Src	breast:	n/a
46	chr11:63537459-63537509	NB4	blood:	n/a
47	chr11:63535821-63535871	Hepatocyte	liver:	n/a
48	chr11:63536855-63536905	HL-60	blood:	n/a
49	chr11:63536855-63536905	K562	blood:	n/a
50	chr11:63537378-63537428	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
2	chr1:89566099..89566939-chr11:63533954..63534897,2	MCF-7	breast:
3	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:
4	chr11:63437417..63439651-chr11:63532413..63534182,2	MCF-7	breast:
5	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
6	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
7	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
8	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
9	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
10	chr11:63533629..63535902-chr11:63537475..63539173,2	MCF-7	breast:
11	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
12	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:
13	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
14	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:
15	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
16	chr11:63536780..63538591-chr11:63740958..63743379,2	K562	blood:
17	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
18	chr11:63536456..63536965-chr21:41500878..41501548,2	MCF-7	breast:
19	chr11:63533005..63535080-chr11:63601950..63603947,2	MCF-7	breast:
20	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
21	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:
22	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
23	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
24	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
25	chr11:63535119..63536047-chr11:63580566..63581171,3	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATL3-1	chr11:63534858-63534962	NONHSAT021906
2	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.2
3	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.1
4	lnc-ATL3-1	chr11:63534816-63535026	ENSG00000255651.2
5	lnc-ATL3-1	chr11:63535956-63536058	NONHSAT021906
6	lnc-ATL3-1	chr11:63534956-63535026	ENSG00000255651.1

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000255651	TF binding region
C11orf95	CpG island
ENSG00000255651	CpG island
ENSG00000256280	chromatin interactions
ENSG00000188070	chromatin interactions
ENSG00000184743	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000133318	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000110583	chromatin interactions
ENSG00000072518	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000202089	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77749149	chr11:63533300-63533301	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs376623591	chr11:63533330-63533331	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs373116664	chr11:63533335-63533336	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535337224	chr11:63533359-63533360	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs554234715	chr11:63533387-63533388	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574395377	chr11:63533424-63533425	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs35550207	chr11:63533500-63533501	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs188166440	chr11:63533549-63533550	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs180919281	chr11:63533593-63533594	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs376973642	chr11:63533598-63533599	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs576573575	chr11:63533607-63533608	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs113830943	chr11:63533651-63533652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs368274831	chr11:63533661-63533662	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs35438004	chr11:63533701-63533702	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs187213461	chr11:63533859-63533860	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs76911957	chr11:63533885-63533886	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs553538271	chr11:63533905-63533906	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs373582946	chr11:63533921-63533922	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs11272963	chr11:63533923-63533924	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs61928236	chr11:63533965-63533966	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542125674	chr11:63534029-63534030	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs539136662	chr11:63534084-63534085	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs190393266	chr11:63534087-63534088	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs370427255	chr11:63534099-63534100	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs371825194	chr11:63534147-63534148	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs556194027	chr11:63534162-63534163	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs550238568	chr11:63534175-63534176	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs146519528	chr11:63534182-63534183	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs573959	chr11:63534186-63534187	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs568543125	chr11:63534206-63534207	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs532655579	chr11:63534209-63534210	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs552455739	chr11:63534240-63534241	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs566279265	chr11:63534260-63534261	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs534980970	chr11:63534275-63534276	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs35394898	chr11:63534288-63534289	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs182590489	chr11:63534299-63534300	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs568450874	chr11:63534357-63534358	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs112625007	chr11:63534569-63534570	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs367555014	chr11:63534571-63534572	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs556589235	chr11:63534588-63534589	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs61928237	chr11:63534596-63534597	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539160500	chr11:63534598-63534599	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs552861902	chr11:63534657-63534658	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs540006394	chr11:63534659-63534660	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs541805123	chr11:63534679-63534680	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs111714159	chr11:63534741-63534742	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs558375911	chr11:63534771-63534772	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs186711937	chr11:63534800-63534801	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs562005503	chr11:63534816-63534817	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs575655317	chr11:63534890-63534891	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:63516600-63533800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63520400-63533400	Weak transcription	GM12878-XiMat	blood
9	chr11:63521200-63534600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:63521400-63534400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:63521400-63534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:63523400-63533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:63523600-63533400	Strong transcription	Dnd41	blood
14	chr11:63525000-63534400	Weak transcription	HSMMtube	muscle
15	chr11:63525800-63534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:63526200-63534600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:63526600-63534800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:63526600-63534800	Weak transcription	Small Intestine	intestine
19	chr11:63527600-63533600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:63528000-63534200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:63528000-63534200	Weak transcription	Fetal Kidney	kidney
22	chr11:63528400-63533800	Weak transcription	HMEC	breast
23	chr11:63528400-63534000	Weak transcription	HSMM	muscle
24	chr11:63528400-63534600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:63528800-63534400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:63529200-63534400	Enhancers	Fetal Brain Male	brain
27	chr11:63529200-63534400	Weak transcription	K562	blood
28	chr11:63529200-63534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:63529200-63534800	Weak transcription	Primary T cells from cord blood	blood
30	chr11:63529200-63534800	Enhancers	Fetal Heart	heart
31	chr11:63529400-63534400	Weak transcription	Osteobl	bone
32	chr11:63529400-63534800	Enhancers	Fetal Lung	lung
33	chr11:63529600-63534000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:63529600-63534400	Weak transcription	NHDF-Ad	bronchial
35	chr11:63530200-63533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:63530600-63533800	Strong transcription	Thymus	Thymus
37	chr11:63531000-63534200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:63531200-63533400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:63531200-63533600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:63531200-63533800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:63531200-63533800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:63531200-63534000	Weak transcription	HUVEC	blood vessel
43	chr11:63531200-63534400	Weak transcription	Brain Angular Gyrus	brain
44	chr11:63531200-63534400	Weak transcription	NHEK	skin
45	chr11:63531200-63534800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:63531200-63534800	Weak transcription	Esophagus	oesophagus
47	chr11:63531200-63534800	Weak transcription	Left Ventricle	heart
48	chr11:63531400-63533600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:63531400-63533800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:63531400-63534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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