Variant report

Variant	rs2186617
Chromosome Location	chr11:86506987-86506988
allele	A/T
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	GATA3	chr11:86506707-86507418	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr11:86506695-86507407	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr11:86506536-86507365	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:86506688-86507368	A549	lung:	n/a	chr11:86506866-86506879
5	BRCA1	chr11:86506648-86507386	Hela-S3	cervix:	n/a	n/a
6	JUN	chr11:86506675-86507343	Hela-S3	cervix:	n/a	chr11:86506918-86506930
7	POLR2A	chr11:86506861-86507214	Hela-S3	cervix:	n/a	n/a
8	MAX	chr11:86506626-86507359	Hela-S3	cervix:	n/a	n/a
9	TBP	chr11:86506534-86507395	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr11:86506480-86507387	Hela-S3	cervix:	n/a	chr11:86506580-86506588
11	EP300	chr11:86506572-86507373	Hela-S3	cervix:	n/a	chr11:86506864-86506878
12	BCL3	chr11:86506711-86507408	A549	lung:	n/a	n/a
13	SIN3AK20	chr11:86506755-86507503	MCF-7	breast:	n/a	n/a
14	JUND	chr11:86506922-86507350	A549	lung:	n/a	n/a
15	NR2F2	chr11:86506905-86507468	MCF-7	breast:	n/a	n/a
16	JUN	chr11:86506975-86507342	HUVEC	blood vessel:	n/a	n/a
17	NR3C1	chr11:86506911-86507385	A549	lung:	n/a	n/a
18	TCF7L2	chr11:86506730-86507421	Hela-S3	cervix:	n/a	n/a
19	MAFK	chr11:86506508-86507257	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr11:86506857-86507382	A549	lung:	n/a	n/a
21	SMC3	chr11:86506593-86507368	Hela-S3	cervix:	n/a	n/a
22	EP300	chr11:86506469-86507452	A549	lung:	n/a	chr11:86506864-86506878
23	TCF12	chr11:86506381-86507457	A549	lung:	n/a	n/a
24	MXI1	chr11:86506730-86507355	Hela-S3	cervix:	n/a	n/a
25	USF2	chr11:86506969-86507386	Hela-S3	cervix:	n/a	n/a
26	SETDB1	chr11:86506452-86507369	U2OS	brain:	n/a	n/a
27	FOXM1	chr11:86506448-86507391	MCF-7	breast:	n/a	n/a
28	CEBPB	chr11:86506865-86507482	A549	lung:	n/a	chr11:86506866-86506879
29	TCF7L2	chr11:86506911-86507314	HEK293	kidney:	n/a	n/a
30	CEBPB	chr11:86506877-86507422	MCF-7	breast:	n/a	n/a
31	TCF12	chr11:86506937-86507387	A549	lung:	n/a	n/a
32	RFX5	chr11:86506650-86507352	Hela-S3	cervix:	n/a	n/a
33	EP300	chr11:86506521-86507406	MCF-7	breast:	n/a	chr11:86506864-86506878
34	ZKSCAN1	chr11:86506559-86507364	Hela-S3	cervix:	n/a	n/a
35	REST	chr11:86506864-86507396	A549	lung:	n/a	n/a
36	CHD2	chr11:86506415-86507358	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr11:86506525-86507416	Hela-S3	cervix:	n/a	chr11:86506866-86506879
38	POLR2A	chr11:86506941-86507219	SK-N-SH	brain:	n/a	n/a
39	GTF2F1	chr11:86506631-86507379	Hela-S3	cervix:	n/a	n/a
40	JUND	chr11:86506824-86507362	Hela-S3	cervix:	n/a	chr11:86506918-86506930
41	EP300	chr11:86506458-86507492	A549	lung:	n/a	chr11:86506864-86506878
42	STAT3	chr11:86506986-86507349	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA3	chr11:86506696-86507421	A549	lung:	n/a	n/a
44	GATA3	chr11:86506350-86507495	MCF-7	breast:	n/a	n/a
45	ELK4	chr11:86506468-86507191	Hela-S3	cervix:	n/a	n/a
46	EP300	chr11:86506895-86507332	MCF-7	breast:	n/a	n/a
47	FOXA2	chr11:86506971-86507458	A549	lung:	n/a	n/a
48	CEBPB	chr11:86506935-86507363	A549	lung:	n/a	n/a
49	MAZ	chr11:86506656-86507333	Hela-S3	cervix:	n/a	n/a
50	FOSL2	chr11:86506842-86507365	A549	lung:	n/a	chr11:86506918-86506930

No.	Distal block	Cell Line	Cell type
1	chr11:86487353..86487910-chr11:86506600..86507192,3	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86487015..86487869-chr11:86506625..86507541,5	MCF-7	breast:
4	chr11:86487325..86487869-chr11:86506625..86507482,2	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10898535	1.00[ASN][1000 genomes]
rs11234804	1.00[ASN][1000 genomes]
rs11234805	1.00[ASN][1000 genomes]
rs11234806	1.00[ASN][1000 genomes]
rs11602721	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604191	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11606902	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362094	1.00[ASN][1000 genomes]
rs12786875	1.00[ASN][1000 genomes]
rs12787853	1.00[ASN][1000 genomes]
rs12788554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793595	1.00[ASN][1000 genomes]
rs12799567	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805405	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000537	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000538	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105587	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34873514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781614	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592314	1.00[ASN][1000 genomes]
rs7128682	1.00[ASN][1000 genomes]
rs750789	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754490	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86495400-86510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86497000-86510000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:86502400-86509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86502400-86510800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
6	chr11:86503400-86510400	Weak transcription	Fetal Lung	lung
7	chr11:86503600-86510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:86503600-86510800	Weak transcription	Pancreas	Pancrea
9	chr11:86504600-86510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
11	chr11:86505200-86510400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:86505600-86510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:86505600-86510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:86506400-86507200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:86506400-86507400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:86506600-86507400	Enhancers	HMEC	breast
17	chr11:86506600-86507400	Enhancers	HUVEC	blood vessel
18	chr11:86506600-86507400	Enhancers	NHEK	skin
19	chr11:86506800-86507000	Flanking Active TSS	Hela-S3	cervix
20	chr11:86506800-86507200	Flanking Active TSS	A549	lung
21	chr11:86506800-86510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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