Variant report

Variant	rs7792321
Chromosome Location	chr7:108070955-108070956
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108066256..108068604-chr7:108069393..108073824,4	K562	blood:
2	chr7:108069636..108072852-chr7:108078819..108081993,4	MCF-7	breast:
3	chr7:108066612..108068536-chr7:108068946..108071866,2	K562	blood:
4	chr7:108067231..108072750-chr7:108078077..108081806,4	K562	blood:
5	chr7:108067165..108069852-chr7:108070201..108071749,2	MCF-7	breast:
6	chr7:108054248..108057900-chr7:108068091..108071582,3	MCF-7	breast:
7	chr7:108068740..108071373-chr7:108072899..108075610,2	K562	blood:
8	chr7:108069523..108074084-chr7:108075336..108078341,6	MCF-7	breast:
9	chr7:108068092..108071090-chr7:108084248..108086402,3	K562	blood:
10	chr7:108059629..108061203-chr7:108069537..108072425,2	MCF-7	breast:

No data

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11973823	0.83[ASN][1000 genomes]
rs11976021	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11979596	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11983900	0.83[ASN][1000 genomes]
rs12669879	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs13222628	0.83[ASN][1000 genomes]
rs13227836	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs13228190	0.83[ASN][1000 genomes]
rs13238841	0.84[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap]
rs17155637	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs17338462	0.84[CEU][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap]
rs17421351	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs17423043	0.84[CEU][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap]
rs17423119	0.84[CEU][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap]
rs2108252	0.85[ASN][1000 genomes]
rs2108253	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2300040	0.93[ASN][1000 genomes]
rs2300048	0.84[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs2300052	0.84[CEU][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap]
rs2395995	0.85[ASN][1000 genomes]
rs35429156	0.85[ASN][1000 genomes]
rs40845	0.87[MEX][hapmap]
rs6466224	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6466225	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6466226	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6466233	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6954366	0.83[ASN][1000 genomes]
rs6959409	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6960478	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs6966107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6967368	0.84[GIH][hapmap]
rs6969521	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6978552	0.84[CEU][hapmap]
rs7784170	0.84[CEU][hapmap]
rs7786947	0.84[CEU][hapmap]
rs7790875	0.84[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.81[ASN][1000 genomes]
rs7797885	0.83[ASN][1000 genomes]
rs7806869	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7792321	THAP5	cis	multi-tissue	Pritchard
rs7792321	CDHR3	cis	cerebellum	SCAN
rs7792321	THAP5	cis	lymphoblastoid	seeQTL
rs7792321	PUS7	cis	parietal	SCAN
rs7792321	NRCAM	cis	cerebellum	SCAN
rs7792321	THAP5	cis	normal skin	skin_eQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108056800-108071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:108058800-108071200	Weak transcription	Pancreas	Pancrea
3	chr7:108059800-108073400	Weak transcription	Fetal Brain Female	brain
4	chr7:108065000-108071000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:108067000-108071000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:108067400-108071200	Weak transcription	HMEC	breast
7	chr7:108067600-108081000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:108067800-108089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:108068000-108089400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:108069000-108086000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:108069200-108071200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:108069200-108071200	Weak transcription	HUVEC	blood vessel
13	chr7:108069600-108074400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:108070000-108072200	Genic enhancers	A549	lung
15	chr7:108070200-108072000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:108070800-108071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:108070800-108071600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:108070800-108071800	Enhancers	Adipose Nuclei	Adipose
19	chr7:108070800-108074200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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