Variant report

Variant	nsv528641
Chromosome Location	chr11:48004369-48043053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1097)
CpG islands
(count:550)
Chromatin interactive
region (count:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1097 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48020351-48020690	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48012687-48013089	K562	blood:	n/a	n/a
3	ARID3A	chr11:48007735-48008092	K562	blood:	n/a	n/a
4	ARID3A	chr11:48011206-48011933	K562	blood:	n/a	n/a
5	ARID3A	chr11:48034789-48035164	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48028182-48028572	K562	blood:	n/a	n/a
7	ARID3A	chr11:48014991-48015408	K562	blood:	n/a	n/a
8	ATF1	chr11:48028142-48028476	K562	blood:	n/a	n/a
9	ATF1	chr11:48007751-48008118	K562	blood:	n/a	n/a
10	ATF1	chr11:48005044-48005362	K562	blood:	n/a	n/a
11	ATF1	chr11:48014956-48015365	K562	blood:	n/a	n/a
12	ATF2	chr11:48009201-48009809	GM12878	blood:	n/a	n/a
13	ATF2	chr11:48027746-48028715	GM12878	blood:	n/a	n/a
14	ATF2	chr11:48030273-48030957	GM12878	blood:	n/a	n/a
15	ATF2	chr11:48009223-48009665	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48028018-48028663	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48040721-48041289	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48030290-48030856	GM12878	blood:	n/a	n/a
19	ATF2	chr11:48040883-48041370	GM12878	blood:	n/a	n/a
20	ATF2	chr11:48041464-48042090	GM12878	blood:	n/a	n/a
21	ATF2	chr11:48041357-48042266	GM12878	blood:	n/a	n/a
22	ATF2	chr11:48034745-48035476	GM12878	blood:	n/a	n/a
23	ATF2	chr11:48040073-48040556	GM12878	blood:	n/a	n/a
24	ATF3	chr11:48015032-48015330	K562	blood:	n/a	n/a
25	ATF3	chr11:48014919-48015429	A549	lung:	n/a	n/a
26	ATF3	chr11:48008321-48008661	K562	blood:	n/a	n/a
27	ATF3	chr11:48014906-48015366	K562	blood:	n/a	n/a
28	ATF3	chr11:48014919-48015447	A549	lung:	n/a	n/a
29	BACH1	chr11:48005088-48005498	K562	blood:	n/a	n/a
30	BACH1	chr11:48015021-48015349	K562	blood:	n/a	n/a
31	BACH1	chr11:48039773-48040831	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr11:48012842-48013153	K562	blood:	n/a	n/a
33	BATF	chr11:48028206-48028581	GM12878	blood:	n/a	chr11:48028447-48028457
34	BATF	chr11:48030359-48030797	GM12878	blood:	n/a	n/a
35	BATF	chr11:48030292-48030795	GM12878	blood:	n/a	n/a
36	BATF	chr11:48010096-48010398	GM12878	blood:	n/a	n/a
37	BATF	chr11:48027948-48028731	GM12878	blood:	n/a	chr11:48028447-48028457 chr11:48028139-48028149
38	BATF	chr11:48040138-48040469	GM12878	blood:	n/a	n/a
39	BATF	chr11:48041683-48042086	GM12878	blood:	n/a	chr11:48041720-48041728
40	BATF	chr11:48041588-48042292	GM12878	blood:	n/a	chr11:48041720-48041728
41	BCL11A	chr11:48030447-48030712	GM12878	blood:	n/a	chr11:48030618-48030627
42	BCL11A	chr11:48028215-48028521	GM12878	blood:	n/a	chr11:48028450-48028459
43	BCL11A	chr11:48028162-48028623	GM12878	blood:	n/a	chr11:48028450-48028459
44	BCL11A	chr11:48030391-48030866	GM12878	blood:	n/a	chr11:48030618-48030627
45	BCL3	chr11:48014534-48015485	A549	lung:	n/a	n/a
46	BCL3	chr11:48028170-48028633	GM12878	blood:	n/a	chr11:48028450-48028459
47	BCL3	chr11:48030336-48030849	GM12878	blood:	n/a	chr11:48030618-48030627
48	BCL3	chr11:48011182-48011850	A549	lung:	n/a	n/a
49	BCLAF1	chr11:48028010-48028681	GM12878	blood:	n/a	chr11:48028450-48028459
50	BCLAF1	chr11:48022949-48023685	GM12878	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48026889-48026939	PANC-1	pancreas:	n/a
2	chr11:48026889-48026939	PANC-1	pancreas:	n/a
3	chr11:48036852-48036902	GM12892	blood:	n/a
4	chr11:48038449-48038499	HUVEC	blood vessel:	n/a
5	chr11:48038449-48038499	AG09319	gingival:	n/a
6	chr11:48026889-48026939	RPTEC	kidney:	n/a
7	chr11:48034953-48035003	AG10803	skin:	n/a
8	chr11:48006811-48006861	PFSK-1	brain:	n/a
9	chr11:48036852-48036902	IMR90	lung:	fetal
10	chr11:48019467-48019517	HIPEpiC	eye:	n/a
11	chr11:48038449-48038499	HRE	kidney:	n/a
12	chr11:48036852-48036902	ProgFib	skin:	n/a
13	chr11:48034953-48035003	HNPCEpiC	eye:	n/a
14	chr11:48019123-48019173	HCM	heart:	n/a
15	chr11:48041783-48041833	IMR90	lung:	fetal
16	chr11:48006811-48006861	HUVEC	blood vessel:	n/a
17	chr11:48026889-48026939	AoSMC	blood vessel:	n/a
18	chr11:48041783-48041833	K562	blood:	n/a
19	chr11:48019123-48019173	H1-hESC	embryonic stem cell:	embryo
20	chr11:48026889-48026939	NT2-D1	testis:	n/a
21	chr11:48040772-48040822	HIPEpiC	eye:	n/a
22	chr11:48026889-48026939	MCF-7	breast:	n/a
23	chr11:48040772-48040822	BJ	skin:	n/a
24	chr11:48036852-48036902	HepG2	liver:	n/a
25	chr11:48019467-48019517	HNPCEpiC	eye:	n/a
26	chr11:48019123-48019173	BE2_C	brain:	n/a
27	chr11:48041783-48041833	HAEpiC	amniotic membrane:	n/a
28	chr11:48038449-48038499	PANC-1	pancreas:	n/a
29	chr11:48026889-48026939	AG04450	lung:	fetal
30	chr11:48038449-48038499	GM19239	blood:	n/a
31	chr11:48041783-48041833	HEEpiC	esophagus:	n/a
32	chr11:48026889-48026939	GM12892	blood:	n/a
33	chr11:48026889-48026939	NH-A	brain:	n/a
34	chr11:48040772-48040822	Hela-S3	cervix:	n/a
35	chr11:48006811-48006861	AG09309	skin:	n/a
36	chr11:48019467-48019517	A549	lung:	n/a
37	chr11:48019467-48019517	NHDF-neo	bronchial:	n/a
38	chr11:48026889-48026939	HAEpiC	amniotic membrane:	n/a
39	chr11:48038449-48038499	HCM	heart:	n/a
40	chr11:48019123-48019173	NHDF-neo	bronchial:	n/a
41	chr11:48006811-48006861	Hela-S3	cervix:	n/a
42	chr11:48019467-48019517	NB4	blood:	n/a
43	chr11:48006811-48006861	SK-N-SH_RA	brain:	n/a
44	chr11:48006811-48006861	GM06990	blood:	n/a
45	chr11:48019123-48019173	PrEC	prostate:	n/a
46	chr11:48038449-48038499	MCF10A-Er-Src	breast:	n/a
47	chr11:48038449-48038499	NB4	blood:	n/a
48	chr11:48036852-48036902	AoSMC	blood vessel:	n/a
49	chr11:48036852-48036902	MCF-7	breast:	n/a
50	chr11:48019123-48019173	HRE	kidney:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:48042672..48045138-chr11:48049010..48052417,3	MCF-7	breast:
2	chr11:48023169..48025909-chr11:48028991..48031119,2	K562	blood:
3	chr11:48011295..48013475-chr11:48013764..48015268,2	MCF-7	breast:
4	chr11:48041770..48044575-chr11:48053476..48055088,2	MCF-7	breast:
5	chr11:47998626..48001544-chr11:48011540..48013257,2	MCF-7	breast:
6	chr11:48010234..48011829-chr11:48063482..48064984,2	MCF-7	breast:
7	chr11:48017573..48020205-chr11:48021877..48024706,2	K562	blood:
8	chr11:48000928..48002542-chr11:48012583..48014769,2	K562	blood:
9	chr11:48009714..48011875-chr11:48013703..48016314,2	K562	blood:
10	chr11:48035360..48038062-chr11:48039286..48041376,2	MCF-7	breast:
11	chr11:48016915..48018555-chr11:48019817..48022552,2	MCF-7	breast:
12	chr11:48000322..48003543-chr11:48021769..48024813,4	MCF-7	breast:
13	chr11:47868355..47870814-chr11:48034909..48036899,2	MCF-7	breast:
14	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:
15	chr11:48011771..48014595-chr11:48017994..48019667,2	K562	blood:
16	chr11:48011467..48013224-chr11:48076838..48078616,2	K562	blood:
17	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:
18	chr11:48028573..48030899-chr11:48036273..48038160,2	K562	blood:
19	chr11:48018299..48021070-chr11:48022717..48025055,2	MCF-7	breast:
20	chr11:48001622..48003248-chr11:48003667..48005492,2	MCF-7	breast:
21	chr11:48018299..48021070-chr11:48022717..48025055,2	MCF-7	breast:
22	chr11:48037574..48039959-chr11:48041081..48044491,3	K562	blood:
23	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:
24	chr11:48016915..48018555-chr11:48019817..48022552,2	MCF-7	breast:
25	chr11:48011771..48014595-chr11:48017994..48019667,2	K562	blood:
26	chr11:48002272..48005395-chr11:48022576..48027269,4	K562	blood:
27	chr11:48013018..48014696-chr11:48016577..48019365,2	MCF-7	breast:
28	chr11:48023010..48025902-chr11:48026149..48029415,3	K562	blood:
29	chr11:48035577..48038589-chr11:48041856..48045572,3	MCF-7	breast:
30	chr11:48009254..48011214-chr11:48013700..48016314,2	K562	blood:
31	chr11:48026525..48028849-chr11:48051139..48053523,2	MCF-7	breast:
32	chr11:48005352..48007583-chr11:48007983..48010458,2	MCF-7	breast:
33	chr11:48015448..48018346-chr11:48050967..48053426,2	MCF-7	breast:
34	chr11:48017573..48020205-chr11:48021877..48024706,2	K562	blood:
35	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:
36	chr11:48009254..48011214-chr11:48013700..48016314,2	K562	blood:
37	chr11:48023169..48025909-chr11:48028991..48031119,2	K562	blood:
38	chr11:48023010..48025902-chr11:48026149..48029415,3	K562	blood:
39	chr11:48002272..48005145-chr11:48021590..48026495,6	K562	blood:
40	chr11:48011295..48013475-chr11:48013764..48015268,2	MCF-7	breast:
41	chr11:48005352..48007583-chr11:48007983..48010458,2	MCF-7	breast:
42	chr11:48017179..48020205-chr11:48021877..48026415,4	K562	blood:
43	chr11:48013018..48014696-chr11:48016577..48019365,2	MCF-7	breast:
44	chr11:48024330..48026388-chr11:48082917..48084428,2	K562	blood:
45	chr11:48017179..48020205-chr11:48021877..48026415,4	K562	blood:
46	chr11:48037574..48039959-chr11:48041081..48044491,3	K562	blood:
47	chr11:48009714..48011875-chr11:48013703..48016314,2	K562	blood:
48	chr11:48031281..48033125-chr11:48036287..48038238,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUP160-1	chr11:48035958-48036229	ENSG00000254879.1
2	lnc-NUP160-1	chr11:48037379-48037407	ENSG00000254879.1

No data

Variant related genes	Relation type
ENSG00000254879	TF binding region
ENSG00000254879	CpG island
ENSG00000254879	chromatin interactions
ENSG00000149177	chromatin interactions
ENSG00000030066	chromatin interactions

Extended variants
information (count: 1278 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1278 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7946766	chr11:48004369-48004370	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144342769	chr11:48004377-48004378	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143619268	chr11:48004449-48004450	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561713718	chr11:48004459-48004460	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528567407	chr11:48004507-48004508	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183626764	chr11:48004530-48004531	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374075148	chr11:48004552-48004553	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565411263	chr11:48004555-48004556	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1228014	chr11:48004593-48004594	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550999576	chr11:48004610-48004611	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569809647	chr11:48004625-48004626	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34347063	chr11:48004649-48004650	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57575033	chr11:48004682-48004683	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57118489	chr11:48004685-48004686	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1681612	chr11:48004709-48004710	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35373855	chr11:48004738-48004739	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs397849593	chr11:48004748-48004749	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548740367	chr11:48004751-48004752	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533660424	chr11:48004788-48004789	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565518513	chr11:48004789-48004790	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529021884	chr11:48004813-48004814	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367960648	chr11:48004817-48004818	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557561629	chr11:48004878-48004879	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571370546	chr11:48004930-48004931	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550458394	chr11:48004977-48004978	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536594674	chr11:48005003-48005004	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556923876	chr11:48005040-48005041	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547508231	chr11:48005050-48005051	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574348055	chr11:48005075-48005076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543363124	chr11:48005101-48005102	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553729734	chr11:48005104-48005105	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187529045	chr11:48005122-48005123	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565015722	chr11:48005126-48005127	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563720450	chr11:48005127-48005128	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370351957	chr11:48005144-48005145	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545624102	chr11:48005149-48005150	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13328902	chr11:48005165-48005166	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs559440168	chr11:48005169-48005170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544246728	chr11:48005203-48005204	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561357027	chr11:48005227-48005228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529591473	chr11:48005359-48005360	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538800568	chr11:48005360-48005361	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75234832	chr11:48005369-48005370	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530065533	chr11:48005379-48005380	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374345487	chr11:48005479-48005480	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559265424	chr11:48005496-48005497	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs528269333	chr11:48005604-48005605	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs190831501	chr11:48005613-48005614	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs571211117	chr11:48005646-48005647	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs531278725	chr11:48005660-48005661	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48001800-48004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:48002800-48005400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:48003200-48004800	Enhancers	Fetal Brain Male	brain
4	chr11:48003400-48005200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:48003600-48004600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:48003600-48005000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:48003600-48005400	Enhancers	HUVEC	blood vessel
8	chr11:48003800-48004400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:48003800-48004600	Enhancers	Brain Substantia Nigra	brain
10	chr11:48003800-48004800	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:48003800-48004800	Weak transcription	Small Intestine	intestine
12	chr11:48003800-48004800	Weak transcription	HSMMtube	muscle
13	chr11:48003800-48004800	Enhancers	K562	blood
14	chr11:48003800-48005400	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:48003800-48005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:48003800-48006000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:48003800-48006000	Enhancers	NHDF-Ad	bronchial
18	chr11:48003800-48006200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:48003800-48007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:48003800-48008400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:48003800-48009000	Weak transcription	Left Ventricle	heart
22	chr11:48003800-48009000	Weak transcription	Right Atrium	heart
23	chr11:48003800-48009000	Weak transcription	Right Ventricle	heart
24	chr11:48003800-48012800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:48003800-48012800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:48003800-48012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:48003800-48012800	Weak transcription	Lung	lung
28	chr11:48004000-48004400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:48004000-48004400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:48004000-48004400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:48004000-48004400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:48004000-48004400	Weak transcription	Fetal Lung	lung
33	chr11:48004000-48004400	Active TSS	A549	lung
34	chr11:48004000-48004400	Active TSS	GM12878-XiMat	blood
35	chr11:48004000-48004400	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:48004000-48004600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:48004000-48004600	Enhancers	Primary T cells from cord blood	blood
38	chr11:48004000-48004600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:48004000-48004600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:48004000-48004600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:48004000-48004600	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:48004000-48004600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:48004000-48004600	Enhancers	Stomach Mucosa	stomach
44	chr11:48004000-48004600	Enhancers	Hela-S3	cervix
45	chr11:48004000-48004800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:48004000-48004800	Weak transcription	Colonic Mucosa	Colon
47	chr11:48004000-48004800	Genic enhancers	Fetal Intestine Small	intestine
48	chr11:48004000-48004800	Enhancers	NH-A	brain
49	chr11:48004000-48004800	Enhancers	Osteobl	bone
50	chr11:48004000-48005000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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