Variant report

Variant	rs6756747
Chromosome Location	chr2:210170216-210170217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10176569	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183434	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10183558	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10439341	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1156703	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11892589	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12469283	0.91[ASN][1000 genomes]
rs12474774	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694177	0.91[ASN][1000 genomes]
rs13400265	0.89[ASN][1000 genomes]
rs1470499	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1473329	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900310	0.83[ASN][1000 genomes]
rs2084208	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284760	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4420655	0.84[ASN][1000 genomes]
rs62215366	0.90[ASN][1000 genomes]
rs6746221	0.86[ASN][1000 genomes]
rs7568109	0.89[ASN][1000 genomes]
rs7576085	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9288404	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs982270	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210164000-210172200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:210168200-210170400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:210168200-210170400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:210168400-210172200	Weak transcription	Right Atrium	heart
5	chr2:210169400-210170600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:210169400-210170800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr2:210169600-210170400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
8	chr2:210169600-210170600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
9	chr2:210169600-210170800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
10	chr2:210169800-210170600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr2:210169800-210170600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:210169800-210170800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
13	chr2:210169800-210170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:210169800-210170800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:210170000-210171000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:210170000-210171000	Genic enhancers	H1 Cell Line	embryonic stem cell

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