Variant report

Variant	rs73729519
Chromosome Location	chr7:137602396-137602397
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137594343..137597312-chr7:137601337..137603443,2	K562	blood:
2	chr7:137594343..137597893-chr7:137600589..137603730,5	K562	blood:
3	chr7:137600305..137602461-chr7:137615591..137618449,2	MCF-7	breast:
4	chr7:137601809..137604434-chr7:137608042..137610252,2	K562	blood:
5	chr7:137601426..137603845-chr7:137616116..137618626,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10232374	1.00[EUR][1000 genomes]
rs10272404	1.00[EUR][1000 genomes]
rs10279567	1.00[EUR][1000 genomes]
rs12112479	1.00[EUR][1000 genomes]
rs56180308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56206871	1.00[EUR][1000 genomes]
rs56249419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364819	1.00[EUR][1000 genomes]
rs58021602	0.92[EUR][1000 genomes]
rs58643157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58766863	0.92[EUR][1000 genomes]
rs58888708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59690824	0.85[EUR][1000 genomes]
rs60066950	1.00[EUR][1000 genomes]
rs60325918	1.00[EUR][1000 genomes]
rs61652269	1.00[EUR][1000 genomes]
rs73729092	1.00[EUR][1000 genomes]
rs73729518	1.00[EUR][1000 genomes]
rs73729520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729521	0.85[EUR][1000 genomes]
rs73729522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv5964	chr7:137599451-137616300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
2	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
3	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
4	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:137585200-137606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:137588800-137603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137588800-137603400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
10	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:137588800-137620200	Weak transcription	Dnd41	blood
12	chr7:137589000-137602800	Strong transcription	HepG2	liver
13	chr7:137589000-137606200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:137589400-137603600	Strong transcription	NHLF	lung
15	chr7:137589400-137603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:137590000-137603000	Strong transcription	Fetal Stomach	stomach
18	chr7:137590000-137603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:137590400-137603400	Weak transcription	Fetal Heart	heart
20	chr7:137590400-137603600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:137592000-137603600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:137592400-137606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
26	chr7:137594200-137606000	Weak transcription	Gastric	stomach
27	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
28	chr7:137594400-137602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:137594400-137604800	Weak transcription	Right Ventricle	heart
30	chr7:137594600-137602600	Weak transcription	Aorta	Aorta
31	chr7:137594600-137604800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
33	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:137595400-137604600	Strong transcription	Placenta	Placenta
35	chr7:137597400-137610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:137597600-137610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:137598400-137605600	Weak transcription	A549	lung
38	chr7:137598400-137610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:137598800-137602800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:137598800-137610200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
42	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
43	chr7:137599600-137605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
45	chr7:137599800-137604800	Weak transcription	Pancreas	Pancrea
46	chr7:137599800-137614800	Weak transcription	HMEC	breast
47	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:137600000-137612400	Weak transcription	Lung	lung
49	chr7:137600200-137604600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:137600200-137604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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