Variant report

Variant	rs11940617
Chromosome Location	chr4:101016945-101016946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100918838..100919810-chr4:101016858..101017790,8	MCF-7	breast:
2	chr4:100919219..100919767-chr4:101016846..101017839,4	MCF-7	breast:
3	chr4:100869287..100871167-chr4:101016882..101019433,2	K562	blood:

Variant related genes	Relation type
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10516461	0.92[EUR][1000 genomes]
rs11097687	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723477	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735694	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736719	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932845	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935767	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11937848	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11942532	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11944693	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11947412	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36109329	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4343735	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4492010	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56159765	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56311063	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57253200	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57315614	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58385517	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60524451	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61351569	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532841	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532842	0.94[ASN][1000 genomes]
rs66686535	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66775689	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66903712	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67560461	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67594720	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67973788	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813794	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6825579	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6830286	0.94[ASN][1000 genomes]
rs6834448	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6834813	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6836304	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6839278	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842492	0.97[ASN][1000 genomes]
rs6858035	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7340772	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340886	0.94[ASN][1000 genomes]
rs7660479	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7662195	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7665301	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7668076	0.94[ASN][1000 genomes]
rs7676597	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7687287	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9942267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942269	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101007800-101028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:101008600-101017800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:101009200-101017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:101013600-101017000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:101014200-101017400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:101014400-101018000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:101014600-101019800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:101015000-101017200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:101015200-101017000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:101015200-101017000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:101015200-101017000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:101015200-101017000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:101015200-101017000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:101015200-101017000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:101015200-101017000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:101015200-101017000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:101015200-101017000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:101015200-101017000	Weak transcription	HMEC	breast
19	chr4:101015200-101017000	Weak transcription	HUVEC	blood vessel
20	chr4:101015200-101017000	Weak transcription	NHEK	skin
21	chr4:101015200-101017200	Weak transcription	Primary B cells from cord blood	blood
22	chr4:101015200-101017400	Weak transcription	Fetal Intestine Small	intestine
23	chr4:101015200-101019000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:101015200-101020600	Weak transcription	Fetal Intestine Large	intestine
25	chr4:101015200-101021600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:101015200-101022200	Weak transcription	Fetal Thymus	thymus
27	chr4:101015400-101017000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:101015400-101017000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:101015400-101017000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:101015400-101017000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:101015400-101017200	Weak transcription	Dnd41	blood
32	chr4:101015400-101020800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:101015400-101021800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:101015400-101022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:101015600-101017000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:101015600-101022200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:101015800-101017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:101015800-101017000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:101015800-101017000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:101016000-101017000	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:101016000-101017800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:101016000-101018000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:101016600-101018000	Enhancers	HepG2	liver
44	chr4:101016800-101017200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:101016800-101017200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:101016800-101017200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:101016800-101017600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:101016800-101018000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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