Variant report

Variant	rs7625978
Chromosome Location	chr3:179148800-179148801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6805470	1.00[AMR][1000 genomes]
rs7616850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7619335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9871045	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
10	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1003514	chr3:178990037-179177029	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179084000-179167200	Weak transcription	Fetal Brain Male	brain
2	chr3:179111800-179150600	Weak transcription	Psoas Muscle	Psoas
3	chr3:179112000-179167200	Weak transcription	Fetal Kidney	kidney
4	chr3:179121000-179149400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:179122800-179149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:179123000-179150400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:179123200-179154800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:179123400-179149600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:179123600-179153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:179123800-179156400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:179132800-179167000	Weak transcription	Hela-S3	cervix
12	chr3:179133200-179149400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:179133400-179150400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:179137200-179149000	Weak transcription	GM12878-XiMat	blood
15	chr3:179137400-179156400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:179139800-179149200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:179139800-179149400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:179139800-179150400	Weak transcription	Brain Substantia Nigra	brain
19	chr3:179139800-179153200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:179142000-179149400	Weak transcription	Liver	Liver
21	chr3:179142000-179149600	Weak transcription	Thymus	Thymus
22	chr3:179142200-179156400	Weak transcription	K562	blood
23	chr3:179142800-179149200	Weak transcription	Fetal Thymus	thymus
24	chr3:179143000-179149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:179143000-179163800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:179143200-179149000	Weak transcription	Primary B cells from cord blood	blood
27	chr3:179143200-179149200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:179143200-179149400	Weak transcription	Aorta	Aorta
29	chr3:179143200-179149400	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:179143200-179150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:179143200-179166800	Weak transcription	HSMM	muscle
32	chr3:179143200-179167000	Weak transcription	HSMMtube	muscle
33	chr3:179143200-179167200	Weak transcription	Fetal Brain Female	brain
34	chr3:179143200-179168200	Weak transcription	Esophagus	oesophagus
35	chr3:179143400-179149600	Weak transcription	Osteobl	bone
36	chr3:179143400-179149800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:179143400-179151200	Weak transcription	NH-A	brain
38	chr3:179143400-179152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:179143400-179165600	Weak transcription	Fetal Intestine Small	intestine
40	chr3:179143400-179167000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:179143600-179156800	Weak transcription	Fetal Stomach	stomach
42	chr3:179143600-179166800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:179143800-179149400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:179143800-179149800	Weak transcription	Fetal Lung	lung
45	chr3:179143800-179150600	Weak transcription	Placenta	Placenta
46	chr3:179143800-179150800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:179143800-179167000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:179144000-179149200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:179144000-179149200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:179144000-179150200	Weak transcription	NHDF-Ad	bronchial

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