Variant report

Variant	rs12313871
Chromosome Location	chr12:65045243-65045244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
2	chr12:65044073..65047049-chr12:65048455..65050562,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11175472	0.86[AFR][1000 genomes]
rs11175473	0.86[AFR][1000 genomes]
rs55657746	0.86[AFR][1000 genomes]
rs58562693	0.81[AFR][1000 genomes]
rs59998584	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74098104	1.00[AMR][1000 genomes]
rs74098107	1.00[AMR][1000 genomes]
rs74098110	1.00[AMR][1000 genomes]
rs74098114	1.00[AMR][1000 genomes]
rs74100757	1.00[AMR][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	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
3	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
4	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
6	chr12:65028400-65047400	Weak transcription	NHLF	lung
7	chr12:65028600-65056400	Weak transcription	NHEK	skin
8	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:65038200-65051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:65038800-65045600	Weak transcription	Ovary	ovary
13	chr12:65041400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:65041400-65050400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:65041600-65047400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:65041600-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:65041600-65052200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:65041800-65045800	Enhancers	Spleen	Spleen
19	chr12:65041800-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:65042200-65045400	Weak transcription	Gastric	stomach
21	chr12:65042200-65047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:65042400-65045400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:65043200-65045400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:65043200-65045400	Enhancers	Fetal Stomach	stomach
25	chr12:65043200-65046400	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr12:65043200-65046600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:65043200-65048000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:65043400-65046600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:65043400-65046800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:65043400-65047000	Enhancers	Rectal Smooth Muscle	rectum
31	chr12:65043400-65047800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:65043400-65047800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:65043400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:65043600-65045400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:65043600-65047800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr12:65043600-65059600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:65043800-65045800	Enhancers	Stomach Mucosa	stomach
38	chr12:65043800-65046400	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:65044000-65045600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:65044000-65046800	Enhancers	HUVEC	blood vessel
41	chr12:65044000-65048600	Weak transcription	HepG2	liver
42	chr12:65044000-65059400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:65044200-65045400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:65044200-65045400	Weak transcription	Pancreas	Pancrea
45	chr12:65044200-65046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:65044200-65046200	Weak transcription	Right Atrium	heart
47	chr12:65044200-65047000	Weak transcription	Aorta	Aorta
48	chr12:65044200-65047400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:65044200-65047600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:65044200-65047800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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