Variant report

Variant	rs1607595
Chromosome Location	chr4:142635648-142635649
allele	A/G
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	FOSL1	chr4:142634830-142635736	HCT-116	colon:	n/a	n/a
2	FOSL2	chr4:142634924-142635693	SK-N-SH	brain:	n/a	n/a
3	EGR1	chr4:142634996-142635679	HCT-116	colon:	n/a	n/a
4	RCOR1	chr4:142634268-142635693	IMR90	lung:	n/a	n/a
5	JUND	chr4:142634956-142635682	SK-N-SH	brain:	n/a	n/a
6	JUND	chr4:142634774-142635683	HCT-116	colon:	n/a	n/a
7	SP1	chr4:142634719-142635723	HCT-116	colon:	n/a	n/a
8	TCF12	chr4:142634807-142635724	SK-N-SH	brain:	n/a	n/a
9	EGR1	chr4:142634950-142635752	HCT-116	colon:	n/a	n/a
10	JUND	chr4:142634757-142635760	SK-N-SH	brain:	n/a	n/a
11	FOSL1	chr4:142634783-142635728	HCT-116	colon:	n/a	n/a
12	SP1	chr4:142634748-142635729	HCT-116	colon:	n/a	n/a
13	FOSL2	chr4:142634847-142635655	A549	lung:	n/a	n/a
14	JUND	chr4:142634813-142635655	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
IL15	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10003233	0.96[ASN][1000 genomes]
rs10033884	0.96[ASN][1000 genomes]
rs10519610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10833	0.88[CHB][hapmap];0.98[ASN][1000 genomes]
rs12498901	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504148	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510514	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17007561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17364630	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131413	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131414	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131415	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113914	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956405	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs55706905	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082300	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56129444	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305248	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56332929	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56761520	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6827248	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850492	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs72712404	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712412	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712413	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712415	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712416	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712417	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712418	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712421	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712423	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712425	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712427	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712428	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712433	0.82[EUR][1000 genomes]
rs72712434	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712438	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712443	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712444	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712448	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712452	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440292	0.98[ASN][1000 genomes]
rs7668411	0.96[ASN][1000 genomes]
rs7671458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688025	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688999	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694632	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3448093	chr4:142612197-142704695	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142608800-142655000	Weak transcription	Gastric	stomach
2	chr4:142624000-142652000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:142624200-142651000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:142629400-142651000	Weak transcription	Left Ventricle	heart
5	chr4:142629400-142654600	Weak transcription	Esophagus	oesophagus
6	chr4:142629400-142655000	Weak transcription	Spleen	Spleen
7	chr4:142629600-142637600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:142629600-142657600	Weak transcription	Right Ventricle	heart
9	chr4:142629800-142637400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:142630000-142638600	Weak transcription	Aorta	Aorta
11	chr4:142630000-142650400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:142630200-142637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:142631800-142637600	Weak transcription	GM12878-XiMat	blood
14	chr4:142634200-142636200	Enhancers	Hela-S3	cervix
15	chr4:142634400-142635800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:142634400-142635800	Enhancers	NHLF	lung
17	chr4:142634400-142636000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:142634600-142635800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:142634600-142635800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:142634600-142635800	Enhancers	HSMM	muscle
21	chr4:142634600-142635800	Enhancers	HSMMtube	muscle
22	chr4:142634600-142635800	Enhancers	NHDF-Ad	bronchial
23	chr4:142634600-142635800	Enhancers	NHEK	skin
24	chr4:142634600-142635800	Enhancers	Osteobl	bone
25	chr4:142634600-142636000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:142634600-142636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:142634600-142636000	Enhancers	HMEC	breast
28	chr4:142634600-142636200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:142634600-142653600	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:142634800-142635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:142634800-142636000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:142634800-142636000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:142634800-142641600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:142634800-142656200	Weak transcription	Pancreas	Pancrea
35	chr4:142635000-142635800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:142635000-142635800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:142635000-142635800	Enhancers	HUVEC	blood vessel
38	chr4:142635000-142636200	Enhancers	A549	lung
39	chr4:142635200-142635800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:142635200-142636000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:142635400-142635800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:142635600-142635800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:142635600-142636000	Enhancers	NH-A	brain

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