Variant report

Variant	rs1497250
Chromosome Location	chr12:25214646-25214647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25209282..25211076-chr12:25214463..25216307,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11047791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047793	0.89[ASN][1000 genomes]
rs11047794	0.89[ASN][1000 genomes]
rs11047796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047797	1.00[ASN][1000 genomes]
rs11047809	1.00[MKK][hapmap]
rs11047892	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs12226955	1.00[ASN][1000 genomes]
rs12228264	1.00[ASN][1000 genomes]
rs12229161	1.00[MKK][hapmap]
rs12427285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319335	1.00[ASN][1000 genomes]
rs1497260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329424	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs17387444	1.00[MKK][hapmap]
rs1846017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012450	1.00[ASN][1000 genomes]
rs2291366	1.00[ASW][hapmap];0.87[CEU][hapmap]
rs4963601	1.00[ASW][hapmap]
rs4963857	1.00[ASW][hapmap]
rs859123	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1051319	chr12:24921100-25238936	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1037288	chr12:24941350-25238936	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv541428	chr12:24941350-25238936	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25205000-25220000	Weak transcription	Spleen	Spleen
2	chr12:25205800-25224800	Weak transcription	Lung	lung
3	chr12:25206000-25217600	Weak transcription	Pancreas	Pancrea
4	chr12:25207400-25219400	Weak transcription	Liver	Liver
5	chr12:25207800-25221400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:25208200-25216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:25209400-25264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:25210000-25262800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:25210200-25217000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:25210200-25218200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:25211000-25217000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:25211200-25216000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:25211400-25215000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:25211800-25215400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:25212000-25214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:25212000-25215800	Weak transcription	Dnd41	blood
17	chr12:25212000-25216600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:25212000-25250800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:25212200-25214800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:25212400-25215200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:25212600-25215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:25212800-25215000	Weak transcription	Primary T cells from cord blood	blood
23	chr12:25212800-25215400	Enhancers	Thymus	Thymus
24	chr12:25213000-25215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:25213000-25216600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:25213200-25214800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:25213200-25215200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:25213400-25216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:25213800-25217200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr12:25214000-25215200	Enhancers	Primary B cells from cord blood	blood
31	chr12:25214000-25216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:25214000-25216800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:25214200-25215400	Genic enhancers	Fetal Thymus	thymus
34	chr12:25214200-25224000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:25214400-25214800	Genic enhancers	GM12878-XiMat	blood
36	chr12:25214400-25215000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:25214400-25219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:25214400-25224200	Weak transcription	Stomach Mucosa	stomach
39	chr12:25214400-25245600	Weak transcription	Ovary	ovary
40	chr12:25214400-25251800	Weak transcription	Fetal Intestine Large	intestine
41	chr12:25214600-25215000	Weak transcription	Primary T cells fromperipheralblood	blood

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