Variant report

Variant	rs73729525
Chromosome Location	chr7:137613651-137613652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:137613594-137613752	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137611909..137614588-chr7:137616790..137618864,2	K562	blood:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10229718	0.83[EUR][1000 genomes]
rs10254813	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10257051	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10263198	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10274570	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17169455	0.83[EUR][1000 genomes]
rs56384334	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73729526	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729527	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9656495	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:137588800-137620200	Weak transcription	Dnd41	blood
4	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
5	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
7	chr7:137599800-137614800	Weak transcription	HMEC	breast
8	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
9	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:137605000-137614000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:137605200-137618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:137605400-137615200	Weak transcription	Pancreas	Pancrea
13	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:137606600-137617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:137606600-137617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:137606800-137614000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:137606800-137615000	Weak transcription	HUVEC	blood vessel
19	chr7:137606800-137615200	Weak transcription	Right Atrium	heart
20	chr7:137607600-137614000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr7:137607800-137614400	Strong transcription	HepG2	liver
22	chr7:137608000-137613800	Strong transcription	Liver	Liver
23	chr7:137608000-137613800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:137608400-137614200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:137609400-137614200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:137609800-137613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:137610200-137613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:137610400-137613800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:137610800-137614000	Strong transcription	GM12878-XiMat	blood
30	chr7:137610800-137614200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:137610800-137615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:137610800-137615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:137610800-137617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:137611000-137613800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:137611000-137617400	Weak transcription	Fetal Heart	heart
36	chr7:137611200-137613800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:137611600-137615000	Weak transcription	NHEK	skin
39	chr7:137611600-137615200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:137611600-137616800	Weak transcription	Fetal Kidney	kidney
41	chr7:137611600-137617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:137611800-137618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:137612000-137613800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:137612000-137617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:137612200-137614000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:137612600-137617200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:137612600-137617600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:137612800-137614800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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