Variant report

Variant	rs1725077
Chromosome Location	chr7:129569997-129569998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10215972	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11765073	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471875	0.86[AFR][1000 genomes]
rs1725078	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402980	0.84[AFR][1000 genomes]
rs2631602	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs2631603	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2693724	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2693725	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708649	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2727462	0.95[ASN][1000 genomes]
rs2727464	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2727477	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2727482	0.84[AFR][1000 genomes]
rs2727483	0.96[ASN][1000 genomes]
rs2727487	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2727488	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2727489	0.86[ASN][1000 genomes]
rs2727490	0.98[ASN][1000 genomes]
rs2727492	0.94[ASN][1000 genomes]
rs2727499	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2727500	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2727502	0.82[AMR][1000 genomes]
rs2727507	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs3807120	0.93[JPT][hapmap]
rs3817530	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:129549800-129572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:129549800-129577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:129553200-129570000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:129554000-129573800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:129556600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:129556600-129579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung
16	chr7:129557800-129572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:129558000-129570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:129558000-129573400	Weak transcription	HSMMtube	muscle
19	chr7:129558000-129580200	Weak transcription	Aorta	Aorta
20	chr7:129558000-129584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
22	chr7:129558200-129572800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:129559600-129576400	Weak transcription	Thymus	Thymus
24	chr7:129559600-129578800	Weak transcription	Pancreas	Pancrea
25	chr7:129559600-129580200	Weak transcription	Gastric	stomach
26	chr7:129559600-129580200	Weak transcription	Ovary	ovary
27	chr7:129559600-129581200	Weak transcription	Lung	lung
28	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
29	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
30	chr7:129563600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:129564000-129573200	Weak transcription	Hela-S3	cervix
32	chr7:129564000-129573400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:129564000-129580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:129564200-129573400	Weak transcription	NHEK	skin
35	chr7:129564200-129577200	Weak transcription	HSMM	muscle
36	chr7:129564400-129586800	Weak transcription	A549	lung
37	chr7:129564600-129570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:129564600-129573000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:129564800-129572400	Weak transcription	Primary B cells from cord blood	blood
40	chr7:129564800-129572800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:129564800-129573000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:129564800-129580200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:129564800-129580200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:129564800-129580200	Weak transcription	Small Intestine	intestine
45	chr7:129565200-129587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:129565400-129587400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:129565600-129573000	Weak transcription	NHLF	lung
48	chr7:129565600-129573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:129565600-129586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:129565600-129587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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