Variant report

Variant	rs4007921
Chromosome Location	chr8:125575013-125575014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125573944-125575373	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
2	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
3	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
4	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
5	chr8:125551424..125552952-chr8:125573257..125575450,2	K562	blood:
6	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
7	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
8	chr8:125573683..125575467-chr8:125971520..125974069,2	MCF-7	breast:
9	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
10	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
11	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10046739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107762	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251109	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13258027	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13261695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899660	1.00[ASW][hapmap]
rs16899708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34263543	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35314147	0.81[EUR][1000 genomes]
rs3829034	0.84[GIH][hapmap]
rs3857946	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs67077163	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv465801	chr8:125565328-125576681	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv612145	chr8:125565328-125576681	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv465802	chr8:125570144-125576681	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv612146	chr8:125570144-125576681	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
3	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
5	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
7	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
8	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
12	chr8:125561200-125575200	Strong transcription	HepG2	liver
13	chr8:125561400-125575600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125563600-125575600	Strong transcription	Fetal Stomach	stomach
15	chr8:125564000-125575600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
17	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood
18	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
19	chr8:125566200-125575800	Weak transcription	NHDF-Ad	bronchial
20	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:125566400-125575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:125566400-125575800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:125566400-125577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:125566400-125577800	Weak transcription	Small Intestine	intestine
25	chr8:125566400-125600600	Weak transcription	NHEK	skin
26	chr8:125566600-125575200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:125566600-125576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:125566600-125577200	Weak transcription	Osteobl	bone
29	chr8:125566800-125581400	Weak transcription	HSMM	muscle
30	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
31	chr8:125567200-125576200	Weak transcription	Fetal Heart	heart
32	chr8:125568200-125575600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:125568200-125577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:125568400-125575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:125568600-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:125568800-125575600	Weak transcription	Ovary	ovary
37	chr8:125568800-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:125569800-125575200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:125570400-125575200	Strong transcription	Brain Angular Gyrus	brain
41	chr8:125570800-125575600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:125571400-125575600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:125571600-125575200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:125571600-125575200	Strong transcription	HUVEC	blood vessel
46	chr8:125571800-125575200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:125572000-125577000	Weak transcription	NHLF	lung
49	chr8:125572400-125575800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:125572400-125575800	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links