Variant report

Variant	rs3919491
Chromosome Location	chr7:40624738-40624739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1000013	0.90[EUR][1000 genomes]
rs1019018	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10251707	1.00[CHB][hapmap]
rs10254954	0.84[EUR][1000 genomes]
rs10256576	1.00[CEU][hapmap]
rs10263677	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10486810	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11760535	1.00[CHB][hapmap]
rs11761250	1.00[CHB][hapmap]
rs11761336	1.00[CHB][hapmap]
rs11763592	1.00[CHB][hapmap]
rs11768774	1.00[CHB][hapmap]
rs11772576	1.00[CHB][hapmap]
rs11974322	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11980464	0.90[EUR][1000 genomes]
rs11982075	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12155334	1.00[CHB][hapmap]
rs17171727	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17171734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17437429	1.00[CHB][hapmap]
rs17438052	1.00[CHB][hapmap]
rs17528214	1.00[CHB][hapmap]
rs17528582	1.00[CHB][hapmap]
rs1859660	0.90[EUR][1000 genomes]
rs2329818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs2329819	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28657711	0.94[EUR][1000 genomes]
rs34523428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4119077	1.00[CHB][hapmap]
rs4119078	1.00[CHB][hapmap]
rs4720368	0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4720370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720371	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4723966	0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723967	0.84[EUR][1000 genomes]
rs4723968	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723969	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723970	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4723972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs57268522	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60011074	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462985	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6462988	1.00[CHB][hapmap]
rs66582232	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66743443	1.00[ASN][1000 genomes]
rs67081175	0.85[AFR][1000 genomes]
rs67156695	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67309967	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68082095	1.00[ASN][1000 genomes]
rs6943787	0.91[EUR][1000 genomes]
rs6945570	0.84[EUR][1000 genomes]
rs6954401	1.00[CEU][hapmap]
rs6956181	1.00[CHB][hapmap]
rs6962853	1.00[ASN][1000 genomes]
rs6977104	0.84[EUR][1000 genomes]
rs6977963	1.00[CHB][hapmap]
rs73308254	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73308257	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73308260	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73308263	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73308264	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308281	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308289	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73308291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310208	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459324	1.00[CEU][hapmap]
rs7779570	1.00[CHB][hapmap]
rs7800409	1.00[CHB][hapmap]
rs7808612	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7812176	1.00[CHB][hapmap]
rs917204	0.91[EUR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40611800-40626000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:40619400-40626000	Weak transcription	HSMM	muscle
3	chr7:40619600-40630200	Weak transcription	Aorta	Aorta
4	chr7:40621000-40626000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:40622200-40625800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:40622600-40625600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:40622600-40625800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:40623200-40624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:40623200-40624800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:40623200-40625000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40623200-40625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:40623200-40626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40623200-40626400	Enhancers	HMEC	breast
14	chr7:40623200-40626400	Enhancers	NHDF-Ad	bronchial
15	chr7:40623400-40625000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:40623400-40625000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:40623400-40625000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:40623400-40625200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:40623400-40626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:40623800-40624800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:40624000-40625000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:40624000-40625000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:40624000-40625400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:40624200-40624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:40624200-40625000	Enhancers	HUVEC	blood vessel
26	chr7:40624200-40625200	Enhancers	Osteobl	bone
27	chr7:40624400-40626200	Enhancers	NH-A	brain
28	chr7:40624400-40626400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:40624400-40626400	Enhancers	NHEK	skin
30	chr7:40624400-40626600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:40624600-40625000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:40624600-40625000	Enhancers	NHLF	lung
33	chr7:40624600-40625200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:40624600-40625200	Enhancers	Dnd41	blood
35	chr7:40624600-40626000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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