Variant report

Variant	rs4639442
Chromosome Location	chr7:86789683-86789684
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	chr7:86780291-86795664	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86787322..86790184-chr7:86793047..86794551,2	MCF-7	breast:
2	chr7:86785961..86790922-chr7:86794752..86798878,5	MCF-7	breast:
3	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10085726	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10228392	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10231010	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238917	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1024457	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10257953	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10952896	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2057984	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2074757	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108271	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108272	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190424	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286268	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2373387	0.91[EUR][1000 genomes]
rs2373388	0.91[EUR][1000 genomes]
rs3747807	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789251	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789252	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140847	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4400318	0.84[EUR][1000 genomes]
rs4727146	0.84[EUR][1000 genomes]
rs4728686	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4728689	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4728690	0.86[AMR][1000 genomes]
rs6465093	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6465101	0.84[EUR][1000 genomes]
rs6952384	0.84[EUR][1000 genomes]
rs6966613	0.94[AMR][1000 genomes]
rs6975202	0.84[EUR][1000 genomes]
rs757961	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765968	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7780698	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7810647	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886787	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86782600-86811400	Weak transcription	Spleen	Spleen
2	chr7:86782800-86798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:86782800-86798400	Weak transcription	Gastric	stomach
4	chr7:86782800-86810800	Weak transcription	Esophagus	oesophagus
5	chr7:86782800-86811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:86783000-86798000	Weak transcription	Lung	lung
7	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:86783200-86792600	Weak transcription	Placenta	Placenta
9	chr7:86783200-86799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:86783800-86792600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:86784000-86792600	Weak transcription	Left Ventricle	heart
12	chr7:86784000-86794200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:86784000-86796000	Weak transcription	Colonic Mucosa	Colon
14	chr7:86784200-86791400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:86784200-86792400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:86784200-86792400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:86784200-86792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:86784200-86796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:86784600-86792600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:86784600-86792600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:86784600-86792600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:86784600-86792800	Weak transcription	Thymus	Thymus
23	chr7:86784600-86793600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:86784600-86794800	Weak transcription	HSMMtube	muscle
25	chr7:86784600-86799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:86784800-86792800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:86784800-86792800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:86785000-86791400	Weak transcription	Fetal Stomach	stomach
29	chr7:86785000-86792400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:86785000-86795800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:86785400-86792000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:86785600-86792600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:86785600-86794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:86785600-86813400	Weak transcription	Stomach Mucosa	stomach
35	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:86785800-86789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:86785800-86794200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:86786000-86789800	Weak transcription	Liver	Liver
39	chr7:86786000-86791400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:86786000-86791400	Weak transcription	Small Intestine	intestine
41	chr7:86786000-86792600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:86786000-86792600	Weak transcription	Fetal Kidney	kidney
43	chr7:86786000-86792600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:86786000-86792800	Weak transcription	Fetal Intestine Large	intestine
45	chr7:86786000-86795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:86786000-86795200	Weak transcription	Aorta	Aorta
47	chr7:86786000-86795400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:86786000-86795400	Weak transcription	Psoas Muscle	Psoas
49	chr7:86786000-86795400	Weak transcription	Right Ventricle	heart
50	chr7:86786000-86797400	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links