Variant report

Variant	rs7591203
Chromosome Location	chr2:173195660-173195661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10182136	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs55639081	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998604	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56004424	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56011402	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57200533	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57540835	0.82[ASN][1000 genomes]
rs58198619	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279316	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465816	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61071477	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61286863	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66486916	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6742648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73018804	0.93[EUR][1000 genomes]
rs73018829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588553	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7602327	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7591203	SSB	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173193000-173196000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:173193800-173195800	Enhancers	Stomach Mucosa	stomach
4	chr2:173193800-173196000	Enhancers	Fetal Intestine Large	intestine
5	chr2:173193800-173196000	Enhancers	Pancreas	Pancrea
6	chr2:173193800-173196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173194000-173195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:173194000-173196200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:173194000-173196200	Enhancers	Fetal Intestine Small	intestine
10	chr2:173194000-173197600	Enhancers	Thymus	Thymus
11	chr2:173194800-173197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:173195000-173196200	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:173195200-173197800	Weak transcription	Fetal Lung	lung
14	chr2:173195200-173199000	Weak transcription	Colonic Mucosa	Colon
15	chr2:173195400-173195800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:173195400-173197200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:173195400-173197200	Weak transcription	Fetal Thymus	thymus
18	chr2:173195400-173197200	Weak transcription	Gastric	stomach
19	chr2:173195400-173197800	Weak transcription	Psoas Muscle	Psoas
20	chr2:173195400-173197800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:173195400-173198000	Weak transcription	Spleen	Spleen
22	chr2:173195400-173199800	Weak transcription	Lung	lung
23	chr2:173195400-173199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
25	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
26	chr2:173195600-173196000	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links