Variant report

Variant	rs12317231
Chromosome Location	chr12:1709821-1709822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
2	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
3	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
4	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12312620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353077	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2286295	0.82[ASN][1000 genomes]
rs2302029	1.00[ASN][1000 genomes]
rs56784338	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57176596	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57414514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61912253	0.89[ASN][1000 genomes]
rs7135216	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301393	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032603	0.89[ASN][1000 genomes]
rs73032610	0.89[ASN][1000 genomes]
rs7306444	1.00[TSI][hapmap]
rs73607812	1.00[ASN][1000 genomes]
rs73607816	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058785	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1704600-1710800	Weak transcription	Ovary	ovary
2	chr12:1704800-1710200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:1704800-1710200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:1704800-1710200	Weak transcription	Colonic Mucosa	Colon
5	chr12:1704800-1710400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:1704800-1710600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:1704800-1710600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:1704800-1710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:1704800-1710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
12	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:1705000-1710200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:1705000-1710200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:1705000-1710200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:1705000-1710200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:1705000-1710200	Weak transcription	Dnd41	blood
19	chr12:1705000-1710400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:1705000-1710400	Weak transcription	Primary B cells from cord blood	blood
21	chr12:1705000-1710400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:1705000-1710400	Weak transcription	HUVEC	blood vessel
23	chr12:1705000-1710600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:1705000-1710600	Weak transcription	GM12878-XiMat	blood
25	chr12:1705000-1713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:1705000-1713800	Weak transcription	HMEC	breast
27	chr12:1705200-1710000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:1705200-1710000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:1705200-1710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:1705200-1710400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:1705200-1710400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:1705200-1710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:1705200-1710600	Weak transcription	A549	lung
34	chr12:1705200-1713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:1705400-1710200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:1705400-1710200	Weak transcription	Fetal Thymus	thymus
37	chr12:1705400-1710400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:1705400-1710400	Weak transcription	Thymus	Thymus
39	chr12:1705400-1710400	Weak transcription	HSMM	muscle
40	chr12:1705400-1710400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:1705400-1713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:1705600-1710200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:1705600-1710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:1705600-1710400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:1705600-1710400	Weak transcription	Stomach Mucosa	stomach
46	chr12:1705600-1710600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:1705600-1710800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:1705600-1714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:1705600-1714400	Weak transcription	Fetal Brain Female	brain
50	chr12:1705800-1710200	Weak transcription	K562	blood

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