Variant report

Variant	rs16865443
Chromosome Location	chr2:178476212-178476213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178473942..178476310-chr2:178476567..178478519,2	K562	blood:
2	chr2:178473801..178476229-chr2:178484606..178486491,2	K562	blood:
3	chr2:178475161..178476807-chr2:178483132..178485490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10497494	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10497495	0.94[JPT][hapmap]
rs10497498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1106074	0.94[JPT][hapmap]
rs1527405	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs1527408	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs16865444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16865446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16865449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865452	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16865475	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16865492	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16865501	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865508	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap]
rs16865509	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865514	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865524	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2178018	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2293472	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2293473	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2695317	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3731803	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3731804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731806	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3770019	0.82[JPT][hapmap]
rs3770022	0.84[JPT][hapmap]
rs3813256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821005	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4144277	0.85[ASN][1000 genomes]
rs59677452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61164370	0.91[ASN][1000 genomes]
rs6745743	0.94[JPT][hapmap]
rs9288008	0.82[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
3	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
6	chr2:178471800-178477400	Weak transcription	Fetal Stomach	stomach
7	chr2:178471800-178482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:178472600-178481000	Weak transcription	Fetal Kidney	kidney
9	chr2:178474800-178477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:178475000-178476400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:178475200-178477800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:178475400-178477200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:178475600-178476400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:178475600-178476800	Enhancers	HepG2	liver
15	chr2:178475600-178477600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:178475800-178476400	Enhancers	Stomach Mucosa	stomach
17	chr2:178475800-178477600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:178476000-178481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:178476200-178476600	Enhancers	Fetal Intestine Large	intestine

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