Variant report

Variant	rs3817530
Chromosome Location	chr7:129587224-129587225
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129585963..129587755-chr7:129588456..129590565,2	MCF-7	breast:
2	chr7:129575738..129578941-chr7:129585169..129588929,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10215972	0.84[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12533468	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1464973	0.86[JPT][hapmap]
rs16873739	0.88[CHB][hapmap];0.83[GIH][hapmap]
rs1725077	0.86[JPT][hapmap]
rs2280680	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs2631602	0.80[JPT][hapmap]
rs2708637	0.80[JPT][hapmap]
rs2727487	0.86[JPT][hapmap]
rs2727499	0.80[JPT][hapmap]
rs2727500	0.86[JPT][hapmap]
rs34297290	0.84[ASN][1000 genomes]
rs3807118	0.88[CHB][hapmap]
rs3807120	0.80[JPT][hapmap]
rs3807121	0.85[ASN][1000 genomes]
rs4728180	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731636	0.87[CHB][hapmap]
rs4731638	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56222328	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62489376	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62489377	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62489378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489379	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489381	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62489382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491533	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62491539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
6	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
7	chr7:129565200-129587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:129565400-129587400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:129565600-129587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:129565600-129588200	Weak transcription	HMEC	breast
11	chr7:129565800-129587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:129565800-129587600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:129565800-129588200	Weak transcription	HUVEC	blood vessel
14	chr7:129569000-129588000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129569800-129587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:129570200-129587400	Weak transcription	Stomach Mucosa	stomach
17	chr7:129573200-129588200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:129573400-129587400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:129573800-129588000	Weak transcription	HSMMtube	muscle
20	chr7:129573800-129588200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:129574000-129587600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:129574000-129588600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:129575400-129587600	Weak transcription	Fetal Intestine Large	intestine
24	chr7:129577200-129587600	Weak transcription	Thymus	Thymus
25	chr7:129577800-129589600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:129579400-129588400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:129580000-129587600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:129580600-129587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:129580600-129587600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:129580600-129587600	Weak transcription	Gastric	stomach
31	chr7:129580600-129587600	Weak transcription	Psoas Muscle	Psoas
32	chr7:129580600-129588000	Weak transcription	Pancreas	Pancrea
33	chr7:129580600-129588200	Weak transcription	Aorta	Aorta
34	chr7:129580600-129588600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:129581600-129587600	Weak transcription	Right Atrium	heart
36	chr7:129581800-129588000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:129582000-129589000	Weak transcription	Ovary	ovary
38	chr7:129582000-129589600	Weak transcription	Lung	lung
39	chr7:129583600-129587400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:129583600-129587600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:129583800-129587600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:129584400-129587800	Weak transcription	Fetal Thymus	thymus
43	chr7:129584600-129587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:129584600-129587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:129584600-129587600	Weak transcription	Fetal Stomach	stomach
46	chr7:129584600-129588400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:129584600-129588600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:129584800-129587800	Weak transcription	Fetal Brain Male	brain
49	chr7:129584800-129588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:129584800-129588000	Weak transcription	Spleen	Spleen

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