Variant report

Variant	rs7951250
Chromosome Location	chr11:120309036-120309037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10750172	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750173	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750174	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10790378	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10790380	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10790382	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10790383	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892562	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10892563	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10892564	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10892566	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10892567	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10892570	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10892574	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10892576	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892578	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892582	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217840	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11217841	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11217852	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11217887	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11600703	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11601535	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12417256	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420378	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12787285	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12794946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1373270	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1892894	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305008	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305010	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4381380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4539328	0.81[AMR][1000 genomes]
rs4938801	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4938804	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4938805	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938806	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4938808	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6589810	0.80[EUR][1000 genomes]
rs6589811	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6589812	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6589813	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7101415	0.80[EUR][1000 genomes]
rs7104639	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7107211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7115714	0.86[EUR][1000 genomes]
rs7117063	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7117321	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118391	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126328	0.85[AMR][1000 genomes]
rs7131046	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7131597	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs723937	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7478880	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924963	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924975	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7932037	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7933086	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937612	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7939137	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7948928	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894839	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9633919	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9633950	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
4	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
6	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120285600-120319800	Weak transcription	Gastric	stomach
8	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
9	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
12	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
13	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:120296000-120309200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:120296000-120312400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
19	chr11:120296000-120316400	Weak transcription	Lung	lung
20	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
22	chr11:120300600-120312000	Strong transcription	Liver	Liver
23	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:120302600-120310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:120302600-120312400	Weak transcription	Left Ventricle	heart
26	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
28	chr11:120303000-120312600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:120303000-120313400	Weak transcription	Ovary	ovary
30	chr11:120303000-120317000	Weak transcription	K562	blood
31	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
32	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:120303200-120312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:120303200-120312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:120303200-120312600	Weak transcription	Brain Substantia Nigra	brain
36	chr11:120303200-120312600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:120303200-120312800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:120303400-120309200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:120303400-120309600	Weak transcription	Fetal Intestine Small	intestine
40	chr11:120303400-120312800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:120303400-120312800	Weak transcription	Fetal Brain Female	brain
42	chr11:120303600-120309800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:120303600-120312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:120303600-120313000	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:120303600-120313800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:120303600-120314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:120303600-120319000	Weak transcription	HMEC	breast
48	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
49	chr11:120303800-120315800	Weak transcription	Fetal Heart	heart
50	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix

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