Variant report

Variant	rs16867170
Chromosome Location	chr2:9948475-9948476
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9940885..9945263-chr2:9946727..9949411,4	K562	blood:
2	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
3	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
4	chr2:9948070..9949733-chr2:10038866..10041132,2	K562	blood:
5	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:
6	chr2:9946709..9949837-chr2:10090072..10092095,4	MCF-7	breast:
7	chr2:9947664..9950412-chr2:10090108..10093730,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16867172	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17363526	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6733465	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908293	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs908294	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv580958	chr2:9942159-9955047	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv528645	chr2:9946213-9975557	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	nsv873622	chr2:9948404-9971366	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9940600-9949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:9940600-9949800	Weak transcription	Lung	lung
5	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
6	chr2:9942800-9948600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:9943200-9949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:9943400-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:9943600-9949000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:9944000-9948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:9944000-9948600	Weak transcription	HMEC	breast
12	chr2:9944000-9949000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:9944000-9949400	Weak transcription	Colonic Mucosa	Colon
14	chr2:9944000-9949400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:9945600-9949400	Weak transcription	HSMMtube	muscle
17	chr2:9945800-9949600	Weak transcription	HSMM	muscle
18	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
19	chr2:9946000-9953600	Weak transcription	Osteobl	bone
20	chr2:9946200-9949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:9946600-9949000	Weak transcription	Gastric	stomach
22	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
23	chr2:9947000-9948800	Weak transcription	Pancreas	Pancrea
24	chr2:9947600-9949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:9947600-9950000	Enhancers	Placenta	Placenta
26	chr2:9948000-9949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
28	chr2:9948400-9949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:9948400-9950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:9948400-9950200	Enhancers	Stomach Mucosa	stomach
31	chr2:9948400-9953200	Enhancers	NHEK	skin

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