Variant report

Variant	rs1944096
Chromosome Location	chr11:67086298-67086299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:
2	chr11:67084803..67087525-chr11:67235714..67238053,2	MCF-7	breast:
3	chr11:67083785..67086299-chr11:67148682..67150944,2	MCF-7	breast:
4	chr11:67083580..67086941-chr11:67112565..67115612,3	MCF-7	breast:
5	chr11:66822099..66824067-chr11:67083569..67086506,3	MCF-7	breast:
6	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
7	chr11:67081944..67087750-chr11:67116991..67120731,7	K562	blood:
8	chr11:67085868..67088376-chr11:67094173..67096494,2	MCF-7	breast:
9	chr11:67083553..67086793-chr11:67138029..67142134,5	MCF-7	breast:
10	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
11	chr11:67084192..67086617-chr11:67097875..67100359,2	MCF-7	breast:
12	chr11:67085099..67087143-chr11:67137966..67139875,2	K562	blood:
13	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
14	chr11:67039446..67046428-chr11:67082594..67088033,9	K562	blood:
15	chr11:67083999..67086731-chr11:67160212..67161741,2	MCF-7	breast:
16	chr11:67020501..67023189-chr11:67083754..67086719,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10736657	0.85[ASN][1000 genomes]
rs10896166	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896172	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs11819783	0.82[EUR][1000 genomes]
rs12288048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12788405	1.00[EUR][1000 genomes]
rs12790040	0.84[ASN][1000 genomes]
rs12791853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12805811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558257	1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs1638569	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17878756	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883741	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790762	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286619	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429463	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511057	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514257	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532605	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852875	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2852877	0.88[YRI][hapmap]
rs34000912	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34087937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35176549	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35247976	0.82[EUR][1000 genomes]
rs35821109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35876769	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35992831	0.86[EUR][1000 genomes]
rs36085596	0.80[EUR][1000 genomes]
rs3737460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4244822	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930192	0.88[MEX][hapmap]
rs4930197	1.00[GIH][hapmap]
rs4930418	0.88[MEX][hapmap]
rs61734600	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591241	0.88[ASN][1000 genomes]
rs66466718	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71457775	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7394531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867193	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326373	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9734588	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
7	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
10	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67084400-67086400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:67084400-67086400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr11:67084400-67086400	Active TSS	Fetal Kidney	kidney
4	chr11:67084400-67086400	Active TSS	Ovary	ovary
5	chr11:67084400-67086400	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:67084400-67086800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:67085400-67086400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:67085400-67086400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:67085400-67086400	Flanking Active TSS	Dnd41	blood
10	chr11:67085600-67086400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr11:67085600-67086400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:67085600-67086400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:67085600-67086400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:67085800-67086400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:67085800-67086400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:67085800-67086400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:67085800-67086400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:67085800-67086400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr11:67085800-67086400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr11:67085800-67086400	Flanking Active TSS	Fetal Heart	heart
21	chr11:67085800-67086400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:67085800-67086400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:67085800-67086400	Flanking Active TSS	Hela-S3	cervix
24	chr11:67085800-67086400	Flanking Active TSS	HMEC	breast
25	chr11:67085800-67086400	Flanking Active TSS	NHEK	skin
26	chr11:67085800-67086600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:67085800-67086600	Flanking Active TSS	Fetal Brain Female	brain
28	chr11:67085800-67086800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:67086000-67086400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:67086000-67086400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr11:67086000-67086400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:67086000-67086400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:67086000-67086400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:67086000-67086400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:67086000-67086400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:67086000-67086400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr11:67086000-67086400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:67086000-67086400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:67086000-67086400	Flanking Active TSS	Fetal Lung	lung
40	chr11:67086000-67086400	Flanking Active TSS	Stomach Mucosa	stomach
41	chr11:67086000-67086400	Flanking Active TSS	A549	lung
42	chr11:67086000-67086600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:67086000-67086800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:67086000-67086800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:67086000-67086800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:67086000-67086800	Enhancers	Spleen	Spleen
47	chr11:67086000-67087000	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:67086000-67090800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:67086000-67104400	Weak transcription	Aorta	Aorta
50	chr11:67086200-67086400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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