Variant report

Variant	rs12361340
Chromosome Location	chr11:120311409-120311410
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120310007..120311721-chr11:120311814..120314080,2	MCF-7	breast:
2	chr11:120311224..120316272-chr11:120317740..120322611,5	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10502236	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10892573	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10892580	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.90[EUR][1000 genomes]
rs11217847	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.94[EUR][1000 genomes]
rs11217859	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11217865	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217871	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217873	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217889	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600723	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11607944	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820277	1.00[ASN][1000 genomes]
rs12361642	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12363974	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120430	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35912781	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537767	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.87[EUR][1000 genomes]
rs57912596	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61898287	1.00[ASN][1000 genomes]
rs61898768	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61900795	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7108596	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7110955	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120040	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7120174	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73582205	1.00[ASN][1000 genomes]
rs73584117	1.00[ASN][1000 genomes]
rs73584140	1.00[ASN][1000 genomes]
rs747419	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs766894	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7948299	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9666441	0.96[AMR][1000 genomes];1.00[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	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:103 , 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	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
11	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:120296000-120312400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
17	chr11:120296000-120316400	Weak transcription	Lung	lung
18	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
20	chr11:120300600-120312000	Strong transcription	Liver	Liver
21	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:120302600-120312400	Weak transcription	Left Ventricle	heart
23	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
25	chr11:120303000-120312600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:120303000-120313400	Weak transcription	Ovary	ovary
27	chr11:120303000-120317000	Weak transcription	K562	blood
28	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
29	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:120303200-120312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:120303200-120312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:120303200-120312600	Weak transcription	Brain Substantia Nigra	brain
33	chr11:120303200-120312600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:120303200-120312800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:120303400-120312800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:120303400-120312800	Weak transcription	Fetal Brain Female	brain
37	chr11:120303600-120312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:120303600-120313000	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:120303600-120313800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:120303600-120314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:120303600-120319000	Weak transcription	HMEC	breast
42	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
43	chr11:120303800-120315800	Weak transcription	Fetal Heart	heart
44	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix
45	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:120304200-120312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:120304400-120323200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:120304600-120312200	Weak transcription	Fetal Lung	lung
49	chr11:120304600-120329800	Strong transcription	HSMM	muscle
50	chr11:120304800-120316400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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