Variant report

Variant	rs73729522
Chromosome Location	chr7:137606359-137606360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137600116..137601742-chr7:137606169..137608041,2	K562	blood:
2	chr7:137606279..137609116-chr7:137617759..137619750,2	K562	blood:
3	chr17:57917876..57919842-chr7:137604891..137607469,2	MCF-7	breast:
4	chr7:137600116..137602105-chr7:137606169..137608041,3	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 27 )
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]
rs73729520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729521	0.85[EUR][1000 genomes]
rs73729523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2595133	chr7:137606299-137607734	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 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	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
2	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
3	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:137588800-137620200	Weak transcription	Dnd41	blood
5	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
9	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
11	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:137597400-137610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:137597600-137610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:137598400-137610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:137598800-137610200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
17	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
18	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
19	chr7:137599800-137614800	Weak transcription	HMEC	breast
20	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:137600000-137612400	Weak transcription	Lung	lung
22	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
23	chr7:137600800-137608200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:137600800-137610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:137600800-137610200	Weak transcription	NHEK	skin
26	chr7:137600800-137611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:137600800-137611200	Weak transcription	Colonic Mucosa	Colon
28	chr7:137600800-137611200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:137600800-137612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:137601000-137607600	Weak transcription	NH-A	brain
31	chr7:137601000-137609800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:137601000-137609800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:137601200-137608600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:137601800-137607600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:137601800-137612400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:137602200-137607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:137602600-137612600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:137603000-137608600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:137603400-137611200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:137603400-137612400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:137603600-137606600	Strong transcription	GM12878-XiMat	blood
43	chr7:137603600-137607000	Strong transcription	HepG2	liver
44	chr7:137603600-137610200	Weak transcription	Brain Anterior Caudate	brain
45	chr7:137603800-137610200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:137603800-137611000	Weak transcription	HSMMtube	muscle
47	chr7:137604000-137608000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:137604400-137608000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:137604600-137606600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:137604600-137606600	Enhancers	Rectal Smooth Muscle	rectum

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