Variant report

Variant	rs73729520
Chromosome Location	chr7:137604405-137604406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137602936..137605750-chr7:137611145..137614286,3	K562	blood:
2	chr7:137602934..137605506-chr7:137607486..137609542,3	K562	blood:
3	chr7:137601809..137604434-chr7:137608042..137610252,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction

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	1.00[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]
rs73729519	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729521	0.85[EUR][1000 genomes]
rs73729522	1.00[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:124 , 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	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
8	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:137588800-137620200	Weak transcription	Dnd41	blood
10	chr7:137589000-137606200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:137592400-137606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
16	chr7:137594200-137606000	Weak transcription	Gastric	stomach
17	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:137594400-137604800	Weak transcription	Right Ventricle	heart
19	chr7:137594600-137604800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
21	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:137595400-137604600	Strong transcription	Placenta	Placenta
23	chr7:137597400-137610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:137597600-137610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:137598400-137605600	Weak transcription	A549	lung
26	chr7:137598400-137610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:137598800-137610200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
29	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
30	chr7:137599600-137605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
32	chr7:137599800-137604800	Weak transcription	Pancreas	Pancrea
33	chr7:137599800-137614800	Weak transcription	HMEC	breast
34	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:137600000-137612400	Weak transcription	Lung	lung
36	chr7:137600200-137604600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:137600200-137604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:137600200-137604800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:137600200-137604800	Weak transcription	Ovary	ovary
40	chr7:137600200-137606000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:137600200-137606000	Weak transcription	Left Ventricle	heart
42	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
43	chr7:137600400-137604800	Weak transcription	NHDF-Ad	bronchial
44	chr7:137600600-137605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:137600600-137605800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:137600600-137605800	Weak transcription	HUVEC	blood vessel
47	chr7:137600800-137604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:137600800-137604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:137600800-137604800	Weak transcription	Primary B cells from cord blood	blood
50	chr7:137600800-137604800	Weak transcription	Muscle Satellite Cultured Cells	--

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