Variant report

Variant	rs2971206
Chromosome Location	chr3:112181541-112181542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1386897	1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872987	1.00[ASN][1000 genomes]
rs1996724	1.00[ASN][1000 genomes]
rs2029318	1.00[ASN][1000 genomes]
rs2087259	1.00[ASN][1000 genomes]
rs2129856	1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	1.00[ASN][1000 genomes]
rs2633541	1.00[ASN][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633567	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633591	1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	1.00[ASN][1000 genomes]
rs2633606	1.00[ASN][1000 genomes]
rs2633607	1.00[ASN][1000 genomes]
rs2633608	1.00[ASN][1000 genomes]
rs2683890	1.00[ASN][1000 genomes]
rs2683896	1.00[ASN][1000 genomes]
rs2683897	1.00[ASN][1000 genomes]
rs2683898	1.00[ASN][1000 genomes]
rs2683901	1.00[ASN][1000 genomes]
rs2683902	1.00[ASN][1000 genomes]
rs2683904	1.00[ASN][1000 genomes]
rs2931761	1.00[ASN][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952469	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112173400-112182200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:112177800-112182200	Enhancers	Primary T cells from cord blood	blood
3	chr3:112179000-112184800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:112179200-112183600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:112179200-112184200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:112179400-112182000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:112179800-112181600	Weak transcription	Fetal Thymus	thymus
8	chr3:112179800-112181800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:112179800-112181800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr3:112179800-112189800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:112180000-112182000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:112180000-112182000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:112180200-112181600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:112180200-112181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:112180200-112181800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:112180200-112181800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:112180200-112181800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:112180200-112182000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:112180200-112182000	Weak transcription	Thymus	Thymus
20	chr3:112180400-112195400	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr3:112180600-112181600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:112180600-112182000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:112180800-112181600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:112181400-112181800	Weak transcription	Primary B cells from cord blood	blood
25	chr3:112181400-112185600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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