Variant report

Variant	rs57508316
Chromosome Location	chr7:150093121-150093122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150093117-150093181	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150061884..150064424-chr7:150091122..150093611,2	MCF-7	breast:
2	chr7:150025736..150029777-chr7:150089904..150093389,3	K562	blood:

Variant related genes	Relation type
ZNF775	TF binding region
ENSG00000188707	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57716148	1.00[AMR][1000 genomes]
rs7779451	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
18	esv3398950	chr7:150092519-150096817	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	esv3442720	chr7:150093044-150095992	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150077200-150094000	Weak transcription	Aorta	Aorta
2	chr7:150077400-150100800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:150077800-150093200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:150077800-150096000	Weak transcription	Right Atrium	heart
5	chr7:150077800-150096800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:150077800-150097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:150078000-150100600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:150078200-150095200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:150078200-150097200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:150078200-150097200	Weak transcription	HUVEC	blood vessel
11	chr7:150078600-150096600	Weak transcription	NHEK	skin
12	chr7:150079800-150093600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:150079800-150095600	Weak transcription	HMEC	breast
14	chr7:150080000-150100200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:150080200-150093600	Weak transcription	Gastric	stomach
16	chr7:150080200-150100200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:150080800-150096400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:150081000-150094800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:150081200-150093600	Weak transcription	Esophagus	oesophagus
20	chr7:150083000-150093800	Weak transcription	Colonic Mucosa	Colon
21	chr7:150085800-150094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150086000-150096800	Weak transcription	Osteobl	bone
23	chr7:150086200-150093200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:150086200-150096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:150086400-150095000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:150086400-150097200	Weak transcription	Stomach Mucosa	stomach
27	chr7:150086400-150100400	Weak transcription	Brain Angular Gyrus	brain
28	chr7:150086400-150100600	Weak transcription	Fetal Brain Male	brain
29	chr7:150086600-150093400	Weak transcription	Right Ventricle	heart
30	chr7:150086600-150093600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:150086600-150093800	Weak transcription	Left Ventricle	heart
32	chr7:150086600-150097000	Weak transcription	NH-A	brain
33	chr7:150086800-150093200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:150086800-150093400	Weak transcription	Fetal Heart	heart
35	chr7:150086800-150093600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:150086800-150093600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:150086800-150093800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:150086800-150093800	Weak transcription	Pancreas	Pancrea
39	chr7:150086800-150094400	Weak transcription	Brain Substantia Nigra	brain
40	chr7:150086800-150095200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:150086800-150101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:150087000-150101200	Weak transcription	Liver	Liver
43	chr7:150087400-150093600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:150087400-150095800	Weak transcription	Psoas Muscle	Psoas
45	chr7:150087400-150097000	Weak transcription	HepG2	liver
46	chr7:150087600-150093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:150087600-150095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:150088000-150093200	Weak transcription	Thymus	Thymus
49	chr7:150088000-150093400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:150088000-150093600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links