Variant report

Variant	rs1861175
Chromosome Location	chr12:4256105-4256106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10459129	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10744631	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10774197	0.80[YRI][hapmap]
rs10774198	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10848986	0.92[EUR][1000 genomes]
rs10848988	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11063011	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11063012	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11063013	0.89[EUR][1000 genomes]
rs1978311	0.95[EUR][1000 genomes]
rs4766207	0.86[CHB][hapmap]
rs6489518	0.83[ASN][1000 genomes]
rs6489519	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7137733	1.00[EUR][1000 genomes]
rs7298905	0.88[EUR][1000 genomes]
rs7304518	1.00[EUR][1000 genomes]
rs759306	0.80[CHB][hapmap]
rs759310	0.84[AMR][1000 genomes];0.95[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4246800-4257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:4252400-4262600	Weak transcription	Esophagus	oesophagus
3	chr12:4252400-4262600	Weak transcription	Lung	lung
4	chr12:4252600-4256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4252600-4257600	Weak transcription	Colonic Mucosa	Colon
6	chr12:4252600-4257600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:4252600-4258200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:4252600-4258400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:4252600-4258400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:4252800-4257400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:4252800-4258400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:4252800-4258400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:4253000-4256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:4253200-4256200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:4253200-4256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:4253200-4257400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:4254400-4258400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:4254600-4259400	Enhancers	Primary B cells from cord blood	blood
19	chr12:4254800-4256800	Enhancers	Fetal Thymus	thymus
20	chr12:4254800-4264400	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:4255000-4256600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:4255000-4258400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:4255200-4256800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:4255200-4257000	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:4255200-4257200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:4255200-4258200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:4255200-4258600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:4255400-4256600	Enhancers	Spleen	Spleen
29	chr12:4255400-4256800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr12:4255400-4256800	Enhancers	K562	blood
31	chr12:4255400-4257000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:4255400-4257200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:4255400-4258000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:4255600-4256800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:4255600-4257000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:4255600-4257200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:4255600-4257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:4255600-4257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:4255800-4256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:4255800-4256600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:4255800-4256800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:4255800-4257000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:4255800-4257600	Weak transcription	HMEC	breast
44	chr12:4255800-4257600	Weak transcription	NHEK	skin
45	chr12:4255800-4257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:4255800-4258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:4256000-4256400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:4256000-4256800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:4256000-4257400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:4256000-4258400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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