Variant report

Variant	rs12831875
Chromosome Location	chr12:65047731-65047732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65046317..65048148-chr12:65063094..65065248,2	K562	blood:
2	chr12:65047034..65048625-chr12:65050187..65053133,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1008159	0.85[CEU][hapmap]
rs11175471	0.85[CEU][hapmap]
rs11175476	0.85[CEU][hapmap]
rs11175478	0.85[CEU][hapmap]
rs11175497	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11837759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230536	0.85[CEU][hapmap]
rs12814316	0.85[CEU][hapmap]
rs12816847	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12824246	0.82[AMR][1000 genomes]
rs12829878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12830436	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs12833931	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17223244	0.85[CEU][hapmap]
rs17223377	0.85[CEU][hapmap]
rs17823442	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2078398	0.85[CEU][hapmap]
rs7303641	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7304648	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7959471	0.82[CEU][hapmap]

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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
2	chr12:65028600-65056400	Weak transcription	NHEK	skin
3	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:65038200-65051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:65041400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:65041400-65050400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:65041600-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:65041600-65052200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:65041800-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:65043200-65048000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:65043400-65047800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:65043400-65047800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:65043400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:65043600-65047800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:65043600-65059600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:65044000-65048600	Weak transcription	HepG2	liver
18	chr12:65044000-65059400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:65044200-65047800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:65044200-65048600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:65044200-65051400	Weak transcription	Colonic Mucosa	Colon
22	chr12:65044600-65051000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:65044800-65050200	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:65044800-65050400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:65045000-65051000	Weak transcription	GM12878-XiMat	blood
26	chr12:65045200-65047800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:65045200-65047800	Enhancers	A549	lung
28	chr12:65045200-65048200	Enhancers	Fetal Heart	heart
29	chr12:65045200-65048600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:65045200-65048800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:65045200-65050200	Enhancers	Primary T cells from cord blood	blood
32	chr12:65045400-65048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:65045400-65049000	Weak transcription	Primary B cells from cord blood	blood
34	chr12:65045600-65048800	Weak transcription	Small Intestine	intestine
35	chr12:65045600-65054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:65045800-65051000	Weak transcription	Gastric	stomach
37	chr12:65045800-65056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:65046400-65047800	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:65046400-65048800	Weak transcription	Stomach Mucosa	stomach
40	chr12:65046400-65049000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:65046400-65050200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:65046400-65058600	Weak transcription	Ovary	ovary
43	chr12:65046600-65048400	Enhancers	Left Ventricle	heart
44	chr12:65046600-65050200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr12:65046600-65051800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:65046800-65048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:65046800-65049800	Weak transcription	HUVEC	blood vessel
48	chr12:65046800-65050000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:65046800-65050000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:65047000-65047800	Enhancers	Right Ventricle	heart

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