Variant report

Variant	rs631746
Chromosome Location	chr2:97065499-97065500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97060310..97063276-chr2:97064799..97066354,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1081711	0.82[EUR][1000 genomes]
rs1081717	0.82[EUR][1000 genomes]
rs2579502	0.81[CEU][hapmap]
rs2579505	0.87[CEU][hapmap]
rs582014	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs583705	0.89[EUR][1000 genomes]
rs585781	0.83[EUR][1000 genomes]
rs596069	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs597420	0.87[EUR][1000 genomes]
rs605175	0.81[EUR][1000 genomes]
rs607302	0.81[EUR][1000 genomes]
rs611943	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs618454	0.82[EUR][1000 genomes]
rs631033	0.82[EUR][1000 genomes]
rs654224	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs655101	0.85[EUR][1000 genomes]
rs670498	0.82[EUR][1000 genomes]
rs674920	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs675239	0.85[EUR][1000 genomes]
rs676007	0.85[EUR][1000 genomes]
rs679414	0.83[EUR][1000 genomes]
rs687950	0.89[EUR][1000 genomes]
rs772156	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs772159	0.91[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs772160	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs772161	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs772167	0.85[EUR][1000 genomes]
rs772173	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs772174	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3416952	chr2:97043127-97076830	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3441712	chr2:97063925-97067223	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs631746	ITPRIPL1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97063000-97073200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:97063600-97065800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:97064000-97069400	Weak transcription	Fetal Thymus	thymus
4	chr2:97065200-97065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:97065200-97065800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:97065200-97066000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:97065200-97066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97065400-97065600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:97065400-97065600	Weak transcription	Gastric	stomach
10	chr2:97065400-97065600	Enhancers	Spleen	Spleen
11	chr2:97065400-97066400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:97065400-97066600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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