Variant report

Variant	rs1733483
Chromosome Location	chr7:40873221-40873222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40873081..40874051-chr7:41750669..41751620,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1006376	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs10268219	0.85[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs10279715	0.81[CEU][hapmap]
rs1029620	0.82[EUR][1000 genomes]
rs10951639	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1203569	0.85[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1203570	0.85[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203573	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1203575	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12701836	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs12701837	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs17770991	0.85[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1974547	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2302025	0.85[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2329877	0.88[CEU][hapmap]
rs35628600	0.81[EUR][1000 genomes]
rs35995194	0.81[EUR][1000 genomes]
rs723838	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs763714	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1733483	INHBA	cis	Nerve Tibial	GTEx
rs1733483	POLD2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40867600-40882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:40867800-40875800	Weak transcription	NHEK	skin
3	chr7:40867800-40877200	Weak transcription	HSMM	muscle
4	chr7:40868000-40873400	Weak transcription	Aorta	Aorta
5	chr7:40868800-40879400	Weak transcription	HSMMtube	muscle
6	chr7:40869600-40873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:40869800-40874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:40869800-40879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:40870800-40873600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40871000-40873600	Weak transcription	NHDF-Ad	bronchial
11	chr7:40872200-40873800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:40872400-40873800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:40872400-40873800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:40872400-40873800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:40872600-40873600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:40872600-40873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:40872600-40873800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:40872600-40873800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:40872800-40874000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:40873000-40873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:40873200-40873800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:40873200-40873800	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links