Variant report

Variant	rs7793
Chromosome Location	chr12:4596978-4596979
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	chr12:4595182..4597570-chr12:4599225..4600787,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10492234	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063178	0.95[ASN][1000 genomes]
rs11063200	0.86[ASN][1000 genomes]
rs59766426	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960636	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965800	0.84[ASN][1000 genomes]
rs7968405	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4587200-4597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:4587200-4597200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:4590200-4597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
6	chr12:4592600-4597400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:4592600-4607800	Weak transcription	Aorta	Aorta
8	chr12:4593400-4597200	Weak transcription	HUVEC	blood vessel
9	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
10	chr12:4593600-4597200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:4593600-4597200	Weak transcription	Liver	Liver
12	chr12:4593600-4597400	Weak transcription	Fetal Thymus	thymus
13	chr12:4593800-4597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:4594200-4597400	Weak transcription	Thymus	Thymus
15	chr12:4594400-4597200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:4594400-4597200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:4594400-4597200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:4594400-4597200	Weak transcription	Osteobl	bone
19	chr12:4594400-4597400	Weak transcription	Dnd41	blood
20	chr12:4594400-4598000	Weak transcription	Fetal Brain Female	brain
21	chr12:4594400-4598800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:4594400-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:4594400-4646400	Weak transcription	NHLF	lung
24	chr12:4594600-4597200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:4594600-4597400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:4594600-4598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:4594800-4597200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:4594800-4597200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:4594800-4597200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:4594800-4597400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:4594800-4597400	Weak transcription	Placenta	Placenta
32	chr12:4594800-4597800	Weak transcription	Fetal Lung	lung
33	chr12:4594800-4597800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:4594800-4598000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:4594800-4606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:4594800-4607800	Weak transcription	HMEC	breast
37	chr12:4594800-4612200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
39	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:4595000-4597400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:4595000-4597400	Weak transcription	NHEK	skin
42	chr12:4595000-4597600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:4595000-4607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:4595200-4597000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:4595200-4597000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:4595200-4597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:4595200-4597200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:4595200-4597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:4595200-4598800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:4595400-4598200	Enhancers	Cortex derived primary cultured neurospheres	brain

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