Variant report

Variant	rs3814732
Chromosome Location	chr11:71192800-71192801
allele	C/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	SIN3AK20	chr11:71191670-71193302	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr11:71192346-71192948	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr11:71191938-71193253	MCF-7	breast:	n/a	n/a
4	MYC	chr11:71192583-71192949	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
5	ELF1	chr11:71192123-71193565	MCF-7	breast:	n/a	chr11:71192368-71192377
6	RAD21	chr11:71192186-71192979	MCF-7	breast:	n/a	chr11:71192318-71192331
7	EP300	chr11:71191555-71193213	MCF-7	breast:	n/a	chr11:71192532-71192546 chr11:71192530-71192544 chr11:71192531-71192545
8	JUND	chr11:71192146-71192992	MCF-7	breast:	n/a	chr11:71192570-71192581 chr11:71192950-71192959
9	MYC	chr11:71192548-71193020	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
10	GABPA	chr11:71192186-71193036	MCF-7	breast:	n/a	n/a
11	TCF12	chr11:71191744-71193484	MCF-7	breast:	n/a	n/a
12	GATA3	chr11:71191549-71193119	MCF-7	breast:	n/a	n/a
13	CEBPB	chr11:71192241-71192924	MCF-7	breast:	n/a	chr11:71192672-71192680
14	GATA3	chr11:71191730-71193007	MCF-7	breast:	n/a	n/a
15	ZNF217	chr11:71191975-71193007	MCF-7	breast:	n/a	n/a
16	FOXM1	chr11:71192242-71192982	MCF-7	breast:	n/a	n/a
17	NR2F2	chr11:71191582-71193199	MCF-7	breast:	n/a	n/a
18	GATA3	chr11:71191547-71193275	MCF-7	breast:	n/a	n/a
19	JUND	chr11:71192085-71193071	MCF-7	breast:	n/a	chr11:71192570-71192581 chr11:71192950-71192959
20	TEAD4	chr11:71192253-71192980	MCF-7	breast:	n/a	n/a
21	FOXM1	chr11:71191760-71193400	MCF-7	breast:	n/a	n/a
22	MAX	chr11:71191698-71193467	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
23	PML	chr11:71192182-71192938	MCF-7	breast:	n/a	n/a
24	HA-E2F1	chr11:71192313-71192991	MCF-7	breast:	n/a	n/a
25	MYC	chr11:71192491-71193081	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
26	HDAC2	chr11:71191794-71193120	MCF-7	breast:	n/a	chr11:71192815-71192834 chr11:71192530-71192544 chr11:71192531-71192545 chr11:71192777-71192791 chr11:71192533-71192547 chr11:71192534-71192548 chr11:71192529-71192543 chr11:71192532-71192546
27	HDAC2	chr11:71191721-71193154	MCF-7	breast:	n/a	chr11:71192815-71192834 chr11:71192530-71192544 chr11:71192531-71192545 chr11:71192777-71192791 chr11:71192533-71192547 chr11:71192534-71192548 chr11:71192529-71192543 chr11:71192532-71192546
28	GATA3	chr11:71192463-71192942	MCF-7	breast:	n/a	n/a
29	TCF12	chr11:71192085-71193114	MCF-7	breast:	n/a	n/a
30	CEBPB	chr11:71192233-71193213	MCF-7	breast:	n/a	chr11:71192672-71192680
31	MAX	chr11:71191484-71193588	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
32	RAD21	chr11:71192092-71193078	MCF-7	breast:	n/a	chr11:71192318-71192331
33	EP300	chr11:71191687-71193066	MCF-7	breast:	n/a	chr11:71192532-71192546 chr11:71192530-71192544 chr11:71192531-71192545
34	NR2F2	chr11:71191502-71193145	MCF-7	breast:	n/a	n/a
35	TEAD4	chr11:71192115-71193038	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:70606175..70607013-chr11:71192490..71193071,2	MCF-7	breast:
2	chr11:70651550..70653868-chr11:71190955..71193136,3	MCF-7	breast:
3	chr11:71192234..71193164-chr11:71211678..71212297,4	MCF-7	breast:
4	chr11:71159135..71160566-chr11:71192183..71193126,10	MCF-7	breast:
5	chr11:71173517..71174399-chr11:71192570..71193116,2	MCF-7	breast:
6	chr11:70651651..70652560-chr11:71192231..71193089,5	MCF-7	breast:
7	chr11:71163908..71164465-chr11:71192678..71193270,2	MCF-7	breast:
8	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
9	chr11:69329817..69330348-chr11:71192258..71193060,2	MCF-7	breast:
10	chr11:70606031..70606654-chr11:71192416..71193099,3	MCF-7	breast:
11	chr11:71186512..71188685-chr11:71191239..71193061,2	K562	blood:
12	chr11:70651704..70652591-chr11:71192192..71193153,8	MCF-7	breast:
13	chr11:71192226..71193095-chr16:88994588..88995116,2	MCF-7	breast:
14	chr11:70651704..70652591-chr11:71192201..71193158,4	MCF-7	breast:

Variant related genes	Relation type
NADSYN1	TF binding region
ENSG00000172890	Chromatin interaction
ENSG00000162105	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10160376	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10160536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234008	0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2276355	1.00[ASN][1000 genomes]
rs2298775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28364616	1.00[ASN][1000 genomes]
rs28364772	0.89[ASN][1000 genomes]
rs28364773	0.89[ASN][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794063	1.00[ASN][1000 genomes]
rs3794068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3819215	1.00[ASN][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs56855873	1.00[ASN][1000 genomes]
rs57174491	0.96[ASN][1000 genomes]
rs57615441	1.00[ASN][1000 genomes]
rs58878631	0.96[ASN][1000 genomes]
rs59157735	0.86[ASN][1000 genomes]
rs59319709	0.96[ASN][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs59948897	1.00[ASN][1000 genomes]
rs60600601	0.96[ASN][1000 genomes]
rs61175194	0.96[ASN][1000 genomes]
rs61440863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7939135	0.96[ASN][1000 genomes]
rs7939596	0.96[ASN][1000 genomes]
rs7950649	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[ASN][1000 genomes]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
3	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
4	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
6	chr11:71167400-71194000	Weak transcription	Fetal Kidney	kidney
7	chr11:71171600-71194000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:71172200-71195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:71180600-71199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:71180800-71197600	Strong transcription	Fetal Intestine Small	intestine
11	chr11:71180800-71198400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:71180800-71199400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:71182000-71197600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:71182000-71197800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:71182000-71198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:71182000-71198800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:71182200-71195800	Strong transcription	Lung	lung
21	chr11:71182200-71197800	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:71182200-71197800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr11:71182200-71198000	Strong transcription	Brain Hippocampus Middle	brain
24	chr11:71182200-71198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:71182200-71198400	Strong transcription	Brain Anterior Caudate	brain
26	chr11:71182200-71198600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:71182200-71198600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:71182200-71198600	Strong transcription	Fetal Stomach	stomach
29	chr11:71182200-71211000	Strong transcription	Liver	Liver
30	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
34	chr11:71182400-71197000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr11:71182400-71197600	Strong transcription	Colonic Mucosa	Colon
36	chr11:71182400-71197800	Strong transcription	Primary B cells from cord blood	blood
37	chr11:71182400-71197800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:71182400-71197800	Strong transcription	Aorta	Aorta
39	chr11:71182400-71197800	Strong transcription	Brain Angular Gyrus	brain
40	chr11:71182400-71197800	Strong transcription	Fetal Brain Female	brain
41	chr11:71182400-71197800	Strong transcription	Fetal Intestine Large	intestine
42	chr11:71182400-71197800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:71182400-71198200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:71182400-71198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:71182400-71198400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:71182400-71198400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:71182400-71198400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:71182400-71198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:71182400-71198800	Strong transcription	GM12878-XiMat	blood
50	chr11:71182400-71199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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