Variant report

Variant	rs16867150
Chromosome Location	chr2:9899127-9899128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9899081..9899639-chr3:43902591..43903091,2	MCF-7	breast:
2	chr2:9897830..9899713-chr2:9900837..9903744,2	K562	blood:
3	chr2:9748514..9750852-chr2:9899112..9901012,2	K562	blood:
4	chr2:9897337..9900295-chr2:9937034..9939837,3	K562	blood:
5	chr2:9897831..9899412-chr2:9902196..9904626,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YWHAQ-1	chr2:9897625-9899428	XLOC_001982

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10189991	0.86[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11889675	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12329266	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619723	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13393165	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs13406396	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13412895	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16867153	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4145374	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55683574	0.83[EUR][1000 genomes]
rs55831980	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67071207	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67169917	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72779090	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72779094	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	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	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9894600-9899800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:9894800-9899600	Enhancers	Esophagus	oesophagus
3	chr2:9895400-9904000	Weak transcription	Hela-S3	cervix
4	chr2:9895600-9900000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9895600-9900200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:9895600-9900800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:9896200-9901400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:9896800-9899600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr2:9896800-9899800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr2:9897000-9902200	Enhancers	K562	blood
11	chr2:9897200-9899200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:9897400-9899200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:9898000-9899200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:9898200-9899200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:9898200-9899400	Enhancers	Pancreas	Pancrea
16	chr2:9898200-9899600	Enhancers	Right Ventricle	heart
17	chr2:9898400-9899200	Enhancers	HMEC	breast
18	chr2:9898400-9899600	Enhancers	Fetal Lung	lung
19	chr2:9898400-9899600	Enhancers	Right Atrium	heart
20	chr2:9898400-9899800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:9898400-9899800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:9898400-9900200	Weak transcription	Primary T cells from cord blood	blood
23	chr2:9898400-9900200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:9898400-9900400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:9898400-9900800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:9898400-9901200	Enhancers	NHEK	skin
27	chr2:9898600-9899200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr2:9898600-9899200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:9898600-9899200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:9898600-9899200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr2:9898600-9899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:9898600-9899200	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:9898600-9899200	Enhancers	Brain Angular Gyrus	brain
34	chr2:9898600-9899200	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:9898600-9899200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:9898600-9899400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:9898600-9899400	Enhancers	Adipose Nuclei	Adipose
38	chr2:9898600-9899400	Enhancers	Brain Hippocampus Middle	brain
39	chr2:9898600-9899600	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:9898600-9899600	Enhancers	HSMMtube	muscle
41	chr2:9898600-9899800	Weak transcription	Thymus	Thymus
42	chr2:9898600-9900400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:9898600-9900400	Enhancers	Brain Anterior Caudate	brain
44	chr2:9898600-9901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:9898600-9901000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:9898600-9901600	Enhancers	Fetal Thymus	thymus
47	chr2:9898600-9901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:9898600-9901800	Weak transcription	Fetal Brain Female	brain
49	chr2:9898600-9903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:9898600-9903600	Weak transcription	Osteobl	bone

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