Variant report

Variant	rs3217871
Chromosome Location	chr12:4400569-4400570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10849028	1.00[CEU][hapmap]
rs3217812	1.00[CEU][hapmap]
rs3217844	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3217856	0.85[EUR][1000 genomes]
rs3217875	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3217892	0.87[EUR][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	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	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1042204	chr12:4395088-4408802	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1054861	chr12:4395342-4406281	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1037515	chr12:4395342-4408673	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1035984	chr12:4395342-4408802	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1035841	chr12:4395736-4408802	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1053259	chr12:4396376-4408802	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv468984	chr12:4399087-4411804	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv557121	chr12:4399087-4411804	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region miRNA target site	1 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	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
2	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
13	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:4391200-4400800	Strong transcription	Pancreas	Pancrea
20	chr12:4393000-4402200	Strong transcription	Aorta	Aorta
21	chr12:4393600-4404400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:4394000-4410200	Weak transcription	Thymus	Thymus
23	chr12:4394200-4404400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:4394600-4401000	Strong transcription	K562	blood
25	chr12:4394800-4404200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:4395000-4400800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:4395000-4403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:4396800-4401200	Genic enhancers	Rectal Smooth Muscle	rectum
29	chr12:4397200-4402000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:4397200-4402800	Strong transcription	HSMM	muscle
31	chr12:4397200-4415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:4397400-4400800	Genic enhancers	Fetal Heart	heart
33	chr12:4397400-4401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:4397400-4415000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:4397400-4416000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:4397600-4409800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:4397600-4415000	Strong transcription	NHEK	skin
38	chr12:4397600-4415400	Strong transcription	HMEC	breast
39	chr12:4397800-4401400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr12:4397800-4402800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:4398000-4401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:4398000-4401800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:4398200-4401400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:4398200-4401600	Strong transcription	Fetal Thymus	thymus
45	chr12:4398200-4405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:4398200-4411600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:4398200-4412800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:4398400-4402800	Genic enhancers	Primary T cells from cord blood	blood
49	chr12:4398600-4401200	Strong transcription	Lung	lung
50	chr12:4398600-4401600	Strong transcription	HSMMtube	muscle

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