Variant report

Variant	rs11234397
Chromosome Location	chr11:85456242-85456243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85453675..85456598-chr11:85463651..85465546,2	MCF-7	breast:
2	chr11:85374586..85376226-chr11:85456033..85458381,2	K562	blood:
3	chr11:85434029..85438059-chr11:85455702..85460015,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10501597	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898409	0.83[ASN][1000 genomes]
rs10898422	0.82[GIH][hapmap]
rs11234386	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234387	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234389	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11234390	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234404	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234408	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11234409	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234413	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234415	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234416	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234418	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234427	0.87[GIH][hapmap]
rs11234450	0.87[GIH][hapmap]
rs11234460	0.87[GIH][hapmap]
rs11234461	0.87[GIH][hapmap]
rs11607789	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs12286030	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12286043	0.84[ASN][1000 genomes]
rs12286206	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12360932	0.87[GIH][hapmap]
rs12362209	0.87[GIH][hapmap]
rs12363624	0.87[GIH][hapmap]
rs12365370	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17148355	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17208602	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17208616	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs17209127	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs17810701	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17810766	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap]
rs17810802	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap]
rs17810855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17811120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276018	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2304342	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2304343	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3891432	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs494119	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs616309	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs645798	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap]
rs678376	0.85[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap]
rs72958027	0.81[ASN][1000 genomes]
rs73518846	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1052123	chr11:85425856-85471132	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1036110	chr11:85429074-85471132	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3471508	chr11:85429687-85472395	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3471519	chr11:85429687-85472395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv555634	chr11:85430397-85464922	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv555635	chr11:85430397-85470893	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv555636	chr11:85431886-85465179	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1042192	chr11:85433687-85464922	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1039118	chr11:85433687-85468605	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1039830	chr11:85433687-85470589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1047001	chr11:85433687-85470941	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1042942	chr11:85433687-85471132	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1052732	chr11:85434057-85468605	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1048844	chr11:85434057-85470941	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1051644	chr11:85434057-85471132	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv555637	chr11:85435730-85470893	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv555638	chr11:85436303-85458076	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1048750	chr11:85436840-85471132	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	esv2754674	chr11:85436852-85470852	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv2757459	chr11:85436868-85473347	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv541112	chr11:85436956-85468985	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv541113	chr11:85437155-85468845	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
3	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:85435600-85456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:85437600-85459800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:85437800-85458000	Weak transcription	HSMM	muscle
9	chr11:85441400-85456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:85441600-85460200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:85442200-85461000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:85444400-85461600	Weak transcription	Lung	lung
13	chr11:85445600-85459800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:85445600-85460200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:85447400-85459200	Weak transcription	NH-A	brain
16	chr11:85447400-85459400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:85447600-85459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:85448000-85463600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:85448000-85480600	Weak transcription	Fetal Stomach	stomach
20	chr11:85448200-85460400	Weak transcription	NHLF	lung
21	chr11:85449200-85459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:85449200-85478400	Weak transcription	Right Ventricle	heart
23	chr11:85450200-85456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:85451200-85456400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:85451400-85457600	Enhancers	Fetal Intestine Small	intestine
26	chr11:85452000-85456600	Weak transcription	NHDF-Ad	bronchial
27	chr11:85452000-85462600	Weak transcription	HSMMtube	muscle
28	chr11:85452400-85456600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:85452400-85459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:85452400-85459400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:85452400-85461800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:85452600-85456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:85452800-85463000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:85453000-85460000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:85453000-85471000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:85453600-85456600	Weak transcription	Gastric	stomach
37	chr11:85454000-85456600	Weak transcription	Pancreas	Pancrea
38	chr11:85454000-85458600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:85454200-85459000	Weak transcription	A549	lung
40	chr11:85454200-85461000	Weak transcription	Fetal Lung	lung
41	chr11:85454200-85462600	Weak transcription	Left Ventricle	heart
42	chr11:85454400-85456600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:85454800-85456600	Weak transcription	Fetal Heart	heart
44	chr11:85454800-85456600	Weak transcription	Hela-S3	cervix
45	chr11:85454800-85457400	Enhancers	Colonic Mucosa	Colon
46	chr11:85455000-85456400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:85455000-85470800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:85455200-85456600	Weak transcription	Small Intestine	intestine
49	chr11:85455400-85456400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:85455400-85456400	Weak transcription	Fetal Intestine Large	intestine

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