Variant report

Variant	esv3341893
Chromosome Location	chr11:73052929-73055477
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	BHLHE40	chr11:73055267-73055413	K562	blood:	n/a	n/a
2	CHD2	chr11:73054031-73054084	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:73053936-73054076	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr11:73053918-73054078	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:73053940-73054090	NHEK	skin:	n/a	n/a
6	CTCF	chr11:73053907-73054044	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:73053632-73053670	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:73053960-73054110	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr11:73053893-73054098	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:73053880-73054030	AG09319	gingival:	n/a	n/a
11	CTCF	chr11:73053940-73054090	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr11:73053796-73054105	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:73053620-73053627	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:73053883-73054094	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:73053607-73053617	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:73053945-73054049	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:73053960-73054110	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr11:73053962-73054042	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:73053908-73054083	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:73053940-73054090	HMF	breast:	n/a	n/a
21	CTCF	chr11:73053820-73053970	SAEC	small airway:	n/a	n/a
22	CTCF	chr11:73053880-73054030	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr11:73053880-73054030	HCM	heart:	n/a	n/a
24	CTCF	chr11:73053943-73054060	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:73053899-73054081	NHEK	skin:	n/a	n/a
26	CTCF	chr11:73053941-73054065	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr11:73053920-73054070	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr11:73053840-73053990	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr11:73053920-73054070	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr11:73053949-73054014	IMR90	lung:	n/a	n/a
31	EGR1	chr11:73055122-73055840	ECC-1	luminal epithelium:	n/a	chr11:73055292-73055305 chr11:73055575-73055586 chr11:73055291-73055306 chr11:73055574-73055587 chr11:73055573-73055588 chr11:73055293-73055303 chr11:73055576-73055586 chr11:73055292-73055305 chr11:73055293-73055302 chr11:73055574-73055587 chr11:73055292-73055305 chr11:73055293-73055304 chr11:73055575-73055586 chr11:73055576-73055586 chr11:73055574-73055588
32	EGR1	chr11:73055083-73055873	ECC-1	luminal epithelium:	n/a	chr11:73055292-73055305 chr11:73055575-73055586 chr11:73055291-73055306 chr11:73055574-73055587 chr11:73055573-73055588 chr11:73055293-73055303 chr11:73055576-73055586 chr11:73055292-73055305 chr11:73055293-73055302 chr11:73055574-73055587 chr11:73055292-73055305 chr11:73055293-73055304 chr11:73055575-73055586 chr11:73055576-73055586 chr11:73055574-73055588
33	EGR1	chr11:73055180-73055698	K562	blood:	n/a	chr11:73055292-73055305 chr11:73055575-73055586 chr11:73055291-73055306 chr11:73055574-73055587 chr11:73055573-73055588 chr11:73055293-73055303 chr11:73055576-73055586 chr11:73055292-73055305 chr11:73055293-73055302 chr11:73055574-73055587 chr11:73055292-73055305 chr11:73055293-73055304 chr11:73055575-73055586 chr11:73055576-73055586 chr11:73055574-73055588
34	EGR1	chr11:73055190-73055377	K562	blood:	n/a	chr11:73055292-73055305 chr11:73055291-73055306 chr11:73055293-73055303 chr11:73055292-73055305 chr11:73055293-73055302 chr11:73055292-73055305 chr11:73055293-73055304
35	EP300	chr11:73055315-73055946	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr11:73055005-73056100	ECC-1	luminal epithelium:	n/a	n/a
37	ESR1	chr11:73055361-73055826	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr11:73055312-73055744	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr11:73055287-73055789	ECC-1	luminal epithelium:	n/a	n/a
40	FOXA2	chr11:73053351-73053650	A549	lung:	n/a	n/a
41	FOXA2	chr11:73053383-73053662	A549	lung:	n/a	n/a
42	GABPA	chr11:73053801-73054101	H1-hESC	embryonic stem cell:	n/a	chr11:73053943-73053952
43	MAX	chr11:73055054-73055976	ECC-1	luminal epithelium:	n/a	chr11:73055579-73055589 chr11:73055320-73055336
44	MAX	chr11:73053651-73054481	H1-hESC	embryonic stem cell:	n/a	chr11:73053846-73053855
45	MAX	chr11:73055141-73055968	ECC-1	luminal epithelium:	n/a	chr11:73055579-73055589 chr11:73055320-73055336
46	MXI1	chr11:73053271-73056008	SK-N-SH	brain:	n/a	n/a
47	MYC	chr11:73053623-73053624	MCF-7	breast:	n/a	n/a
48	MYC	chr11:73053625-73053890	MCF-7	breast:	n/a	chr11:73053846-73053855
49	MYC	chr11:73055210-73055247	GM12878	blood:	n/a	n/a
50	MYC	chr11:73053391-73053489	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73054185-73054235	GM12892	blood:	n/a
2	chr11:73054121-73054171	NH-A	brain:	n/a
3	chr11:73054185-73054235	HEK293	kidney:	embryo
4	chr11:73054185-73054235	AG10803	skin:	n/a
5	chr11:73054185-73054235	HMEC	breast:	n/a
6	chr11:73053830-73053880	NHBE	bronchial:	n/a
7	chr11:73053649-73053699	HCT-116	colon:	n/a
8	chr11:73054185-73054235	HCF	heart:	n/a
9	chr11:73053649-73053699	Caco-2	colon:	n/a
10	chr11:73053649-73053699	Hepatocyte	liver:	n/a
11	chr11:73053830-73053880	HCF	heart:	n/a
12	chr11:73054185-73054235	SK-N-SH_RA	brain:	n/a
13	chr11:73054401-73054451	HRPEpiC	eye:	n/a
14	chr11:73053649-73053699	SAEC	small airway:	n/a
15	chr11:73054401-73054451	Hepatocyte	liver:	n/a
16	chr11:73054401-73054451	SK-N-SH_RA	brain:	n/a
17	chr11:73054121-73054171	HUVEC	blood vessel:	n/a
18	chr11:73053830-73053880	SK-N-SH	brain:	n/a
19	chr11:73054185-73054235	CMK	blood:	n/a
20	chr11:73054401-73054451	SAEC	small airway:	n/a
21	chr11:73054401-73054451	NHBE	bronchial:	n/a
22	chr11:73053830-73053880	HRE	kidney:	n/a
23	chr11:73054185-73054235	ovcar-3	ovarian:	n/a
24	chr11:73054121-73054171	GM12892	blood:	n/a
25	chr11:73054401-73054451	HCT-116	colon:	n/a
26	chr11:73054401-73054451	ECC-1	luminal epithelium:	n/a
27	chr11:73053830-73053880	SK-N-MC	brain:	n/a
28	chr11:73054185-73054235	U87	brain:	n/a
29	chr11:73053830-73053880	PrEC	prostate:	n/a
30	chr11:73054401-73054451	Caco-2	colon:	n/a
31	chr11:73053649-73053699	NT2-D1	testis:	n/a
32	chr11:73053649-73053699	ECC-1	luminal epithelium:	n/a
33	chr11:73054121-73054171	GM12878	blood:	n/a
34	chr11:73053830-73053880	MCF-7	breast:	n/a
35	chr11:73054401-73054451	SK-N-MC	brain:	n/a
36	chr11:73053830-73053880	HRPEpiC	eye:	n/a
37	chr11:73054121-73054171	ovcar-3	ovarian:	n/a
38	chr11:73053830-73053880	HEEpiC	esophagus:	n/a
39	chr11:73054121-73054171	HRE	kidney:	n/a
40	chr11:73054185-73054235	NHBE	bronchial:	n/a
41	chr11:73054401-73054451	HMEC	breast:	n/a
42	chr11:73053830-73053880	RPTEC	kidney:	n/a
43	chr11:73054185-73054235	AG04449	skin:	fetal
44	chr11:73054401-73054451	K562	blood:	n/a
45	chr11:73053649-73053699	HNPCEpiC	eye:	n/a
46	chr11:73054121-73054171	HAEpiC	amniotic membrane:	n/a
47	chr11:73054185-73054235	HRE	kidney:	n/a
48	chr11:73054185-73054235	HCM	heart:	n/a
49	chr11:73053649-73053699	GM12892	blood:	n/a
50	chr11:73054185-73054235	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
2	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
3	chr11:73051469..73053504-chr11:73055523..73058425,3	MCF-7	breast:
4	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:
5	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF17	TF binding region
ARHGEF17	CpG island
ENSG00000110237	chromatin interactions
ENSG00000054967	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78023547	chr11:73052938-73052939	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528335962	chr11:73052966-73052967	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs79477475	chr11:73052980-73052981	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs551658504	chr11:73053029-73053030	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs150679832	chr11:73053037-73053038	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs377221263	chr11:73053038-73053039	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs564934407	chr11:73053069-73053070	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs530855214	chr11:73053082-73053083	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs550647136	chr11:73053096-73053097	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567451836	chr11:73053145-73053146	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs139385086	chr11:73053152-73053153	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546846983	chr11:73053154-73053155	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183278335	chr11:73053200-73053201	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs113647379	chr11:73053201-73053202	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs538914577	chr11:73053211-73053212	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559336906	chr11:73053213-73053214	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs574681678	chr11:73053219-73053220	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs577701095	chr11:73053220-73053221	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537077771	chr11:73053261-73053262	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557071243	chr11:73053265-73053266	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561750889	chr11:73053311-73053312	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573750101	chr11:73053348-73053349	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542721760	chr11:73053380-73053381	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs528963172	chr11:73053395-73053396	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540526735	chr11:73053399-73053400	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs79403596	chr11:73053435-73053436	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs73542460	chr11:73053467-73053468	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116769922	chr11:73053478-73053479	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371324700	chr11:73053498-73053499	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs187858162	chr11:73053513-73053514	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530795037	chr11:73053517-73053518	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550536384	chr11:73053521-73053522	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560964038	chr11:73053572-73053573	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs530100228	chr11:73053579-73053580	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs547072369	chr11:73053623-73053624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533566628	chr11:73053662-73053663	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs193190741	chr11:73053711-73053712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111882289	chr11:73053714-73053715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs183347033	chr11:73053780-73053781	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs578164802	chr11:73053851-73053852	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567075700	chr11:73053858-73053859	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545014099	chr11:73053939-73053940	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538561039	chr11:73054000-73054001	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs570196247	chr11:73054007-73054008	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556961224	chr11:73054068-73054069	Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187946486	chr11:73054263-73054264	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535963762	chr11:73054284-73054285	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144268896	chr11:73054332-73054333	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572938033	chr11:73054368-73054369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544835060	chr11:73054396-73054397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73044800-73053000	Weak transcription	Aorta	Aorta
2	chr11:73045800-73053400	Weak transcription	Pancreas	Pancrea
3	chr11:73046400-73053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:73046400-73053200	Weak transcription	Gastric	stomach
5	chr11:73046400-73053400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:73046600-73053000	Weak transcription	Right Atrium	heart
7	chr11:73046600-73053400	Weak transcription	Colonic Mucosa	Colon
8	chr11:73046600-73053400	Weak transcription	Fetal Brain Male	brain
9	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
12	chr11:73046600-73075400	Weak transcription	A549	lung
13	chr11:73046800-73053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:73047000-73053000	Strong transcription	Fetal Stomach	stomach
15	chr11:73047000-73053200	Weak transcription	Fetal Brain Female	brain
16	chr11:73047000-73053200	Strong transcription	Fetal Intestine Small	intestine
17	chr11:73047000-73053200	Weak transcription	HSMM	muscle
18	chr11:73047000-73053400	Weak transcription	Fetal Kidney	kidney
19	chr11:73047000-73053600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:73047000-73053600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73047200-73053400	Weak transcription	Fetal Lung	lung
23	chr11:73047200-73053400	Weak transcription	HUVEC	blood vessel
24	chr11:73047200-73053600	Weak transcription	NH-A	brain
25	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:73049000-73053400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73049200-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:73049200-73053400	Weak transcription	Fetal Intestine Large	intestine
30	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:73049600-73053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:73049600-73053200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:73049800-73053400	Weak transcription	Ovary	ovary
34	chr11:73050000-73053000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:73050600-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:73050600-73053600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:73051000-73053000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:73051200-73053200	Enhancers	Spleen	Spleen
39	chr11:73051200-73053600	Enhancers	Left Ventricle	heart
40	chr11:73051200-73053800	Strong transcription	HepG2	liver
41	chr11:73051400-73053000	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:73051400-73055400	Weak transcription	HMEC	breast
43	chr11:73051600-73053400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:73051600-73053400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73051600-73053400	Weak transcription	Esophagus	oesophagus
46	chr11:73051800-73053000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:73051800-73053200	Weak transcription	Brain Anterior Caudate	brain
48	chr11:73051800-73053200	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:73051800-73053200	Weak transcription	Osteobl	bone
50	chr11:73051800-73053400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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