Variant report

Variant	rs16867145
Chromosome Location	chr2:9893015-9893016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9886336..9889527-chr2:9892124..9895525,3	MCF-7	breast:
2	chr2:9891910..9893733-chr2:9895279..9898420,3	MCF-7	breast:
3	chr2:9892798..9893661-chr3:149530498..149531325,2	Hela-S3	cervix:
4	chr2:9891163..9893022-chr2:9896031..9898454,2	K562	blood:
5	chr10:92980146..92980794-chr2:9892579..9893415,2	Hela-S3	cervix:
6	chr2:9772230..9774093-chr2:9892101..9894340,2	MCF-7	breast:
7	chr2:9892015..9895829-chr2:9904744..9907713,4	K562	blood:
8	chr2:9892015..9894940-chr2:9904744..9907619,3	K562	blood:
9	chr2:9769789..9771364-chr2:9892124..9894482,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082996	Chromatin interaction
ENSG00000240960	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000180628	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004488	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172624	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10185303	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10188428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190680	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10200454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10469619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11682339	1.00[MEX][hapmap]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13417294	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs4327210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56832685	1.00[EUR][1000 genomes]
rs57119165	1.00[EUR][1000 genomes]
rs58377484	1.00[EUR][1000 genomes]
rs59042599	1.00[EUR][1000 genomes]
rs59457002	1.00[EUR][1000 genomes]
rs60115192	1.00[EUR][1000 genomes]
rs6723929	1.00[AMR][1000 genomes]
rs6728922	1.00[AMR][1000 genomes]
rs6734361	1.00[MEX][hapmap]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[EUR][1000 genomes]
rs73164234	1.00[EUR][1000 genomes]
rs73164238	1.00[EUR][1000 genomes]
rs73164239	1.00[EUR][1000 genomes]
rs73164242	1.00[EUR][1000 genomes]
rs73913171	1.00[AMR][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	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
2	chr2:9889400-9893200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:9890800-9894200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:9891600-9896800	Weak transcription	Psoas Muscle	Psoas
8	chr2:9892000-9894200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:9892000-9897800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr2:9892400-9895600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:9892400-9898600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:9892600-9893200	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr2:9892600-9893200	Enhancers	K562	blood
14	chr2:9892600-9893600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:9892600-9893600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:9892600-9893800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:9892600-9893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:9892600-9893800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:9892600-9893800	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:9892600-9893800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:9892600-9893800	Flanking Active TSS	Osteobl	bone
22	chr2:9892600-9894200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:9892600-9894200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:9892600-9894400	Flanking Active TSS	A549	lung
25	chr2:9892600-9894600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:9892600-9894600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:9892600-9894600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:9892600-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:9892600-9894800	Enhancers	Fetal Intestine Large	intestine
30	chr2:9892600-9894800	Enhancers	Fetal Intestine Small	intestine
31	chr2:9892600-9895000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:9892600-9895200	Flanking Active TSS	Hela-S3	cervix
33	chr2:9892600-9895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:9892600-9897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:9892800-9893200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:9892800-9893400	Enhancers	Colonic Mucosa	Colon
37	chr2:9892800-9893800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:9892800-9893800	Flanking Active TSS	HSMMtube	muscle
39	chr2:9892800-9894000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:9892800-9894000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:9892800-9894400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:9892800-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:9892800-9894800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr2:9892800-9894800	Bivalent Enhancer	Placenta	Placenta
45	chr2:9892800-9894800	Enhancers	Pancreas	Pancrea
46	chr2:9892800-9894800	Flanking Active TSS	NHEK	skin
47	chr2:9892800-9895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:9892800-9895000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:9892800-9895000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:9892800-9895200	Enhancers	H1 Cell Line	embryonic stem cell

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