Variant report

Variant	rs6499316
Chromosome Location	chr16:70483023-70483024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70470699..70474802-chr16:70480614..70486154,9	K562	blood:
2	chr16:70481706..70484145-chr16:70486783..70488529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157353	Chromatin interaction
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11865368	1.00[AMR][1000 genomes]
rs11865863	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs11866628	1.00[AMR][1000 genomes]
rs11867150	0.91[YRI][hapmap]
rs16970154	0.82[YRI][hapmap]
rs16970191	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16970331	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970335	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	0.97[AFR][1000 genomes]
rs17882800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852697	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852698	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs6499313	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499319	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187719	1.00[AMR][1000 genomes]
rs7196295	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199043	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	1.00[AMR][1000 genomes]
rs8064090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
2	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:70478400-70484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:70478400-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:70478800-70487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:70479400-70487400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:70479600-70484000	Weak transcription	Fetal Intestine Large	intestine
8	chr16:70481200-70487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:70481200-70487400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:70481200-70487400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:70481400-70485200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:70481400-70487200	Weak transcription	K562	blood
13	chr16:70481400-70487400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:70481400-70487400	Weak transcription	Primary B cells from cord blood	blood
15	chr16:70482000-70487400	Weak transcription	GM12878-XiMat	blood
16	chr16:70483000-70484400	Enhancers	HepG2	liver

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