Variant report

Variant	rs10993956
Chromosome Location	chr9:136532412-136532413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10993952	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993953	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs129888	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs129915	0.94[EUR][1000 genomes]
rs129927	0.85[EUR][1000 genomes]
rs129928	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1611131	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2073835	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073836	0.86[EUR][1000 genomes]
rs2073837	0.85[EUR][1000 genomes]
rs2519127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv894106	chr9:136489539-136566959	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv894107	chr9:136494566-136579589	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv894108	chr9:136507473-136617292	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv894110	chr9:136512515-136542868	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv894111	chr9:136522985-136563926	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv615641	chr9:136525306-136534031	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv615642	chr9:136525306-136534288	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv615643	chr9:136525306-136534391	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv998446	chr9:136525679-136535832	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1807028	chr9:136525988-136534343	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1844818	chr9:136527226-136534391	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv1848293	chr9:136527226-136534391	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv615644	chr9:136527226-136534391	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv894112	chr9:136528721-136571089	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1049434	chr9:136529766-136618314	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3389113	chr9:136531631-136536329	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv615645	chr9:136532183-136534186	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv615646	chr9:136532183-136534339	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv1808458	chr9:136532183-136534391	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv615647	chr9:136532183-136534391	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv615648	chr9:136532183-136538052	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136524400-136541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:136524800-136535600	Weak transcription	HepG2	liver
3	chr9:136524800-136537000	Weak transcription	Fetal Lung	lung
4	chr9:136524800-136542800	Weak transcription	Right Atrium	heart
5	chr9:136524800-136555600	Weak transcription	HSMM	muscle
6	chr9:136525000-136556800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:136525200-136534000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:136525200-136534600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:136525400-136534600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:136525800-136536200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr9:136526000-136534400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:136526000-136534800	Weak transcription	Fetal Intestine Small	intestine
13	chr9:136528400-136540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:136528600-136544200	Weak transcription	Ovary	ovary
15	chr9:136529000-136533600	Strong transcription	Liver	Liver
16	chr9:136529200-136533400	Enhancers	Fetal Muscle Leg	muscle
17	chr9:136529400-136534600	Weak transcription	Pancreas	Pancrea
18	chr9:136530200-136533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:136530600-136534600	Weak transcription	Fetal Thymus	thymus
20	chr9:136530800-136534600	Weak transcription	Primary T cells from cord blood	blood
21	chr9:136530800-136561000	Weak transcription	Gastric	stomach
22	chr9:136531800-136533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:136532000-136533000	Weak transcription	Right Ventricle	heart
24	chr9:136532000-136534600	Weak transcription	Fetal Stomach	stomach
25	chr9:136532000-136543600	Weak transcription	Lung	lung
26	chr9:136532200-136532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:136532200-136533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:136532200-136534600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:136532200-136534600	Weak transcription	Spleen	Spleen
30	chr9:136532400-136534600	Weak transcription	H1 Cell Line	embryonic stem cell

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