Variant report

Variant	rs646917
Chromosome Location	chr13:30515610-30515611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30514787..30515626-chr17:65540226..65541038,2	MCF-7	breast:
2	chr13:30512486..30516242-chr13:30529306..30532066,3	K562	blood:
3	chr13:30513452..30517431-chr13:30524367..30526986,3	MCF-7	breast:
4	chr13:30494281..30495981-chr13:30514922..30517429,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1041577	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs12583831	0.88[ASN][1000 genomes]
rs1359475	0.83[EUR][1000 genomes]
rs17074100	0.80[CHB][hapmap];0.90[ASN][1000 genomes]
rs17074118	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs17074120	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs4318068	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4769779	0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4769780	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4769781	0.80[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4769782	0.88[ASN][1000 genomes]
rs4769783	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs585668	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61138957	0.90[ASN][1000 genomes]
rs634413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490437	0.81[EUR][1000 genomes]
rs7322038	0.80[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7339208	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988422	0.82[ASN][1000 genomes]
rs7994222	0.80[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs843883	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs912788	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs9314990	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9314991	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9506244	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9508594	0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
2	chr13:30512400-30518400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:30512800-30515800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr13:30513000-30517200	Weak transcription	Primary T cells from cord blood	blood
5	chr13:30514000-30517600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr13:30514000-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:30514200-30517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:30514400-30515800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:30514400-30516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:30514800-30516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:30515000-30515800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:30515200-30518000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:30515400-30517000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:30515600-30517200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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