Variant report

Variant	rs12036573
Chromosome Location	chr1:223922523-223922524
allele	G/T
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	chr1:223919205..223921124-chr1:223921422..223926352,4	K562	blood:
2	chr1:223903451..223905300-chr1:223920938..223923297,2	MCF-7	breast:
3	chr1:223907868..223910844-chr1:223920862..223922625,2	K562	blood:
4	chr1:223892791..223896772-chr1:223919510..223922888,4	MCF-7	breast:
5	chr1:223914702..223917591-chr1:223920131..223923452,6	K562	blood:
6	chr1:223919304..223920937-chr1:223921422..223924041,2	K562	blood:
7	chr1:223907966..223910136-chr1:223920421..223923104,3	K562	blood:
8	chr1:223898782..223903083-chr1:223918027..223924082,6	K562	blood:
9	chr1:223913054..223915038-chr1:223921368..223922985,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12022914	0.83[CHB][hapmap]
rs12022934	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12023822	0.84[ASN][1000 genomes]
rs12026548	0.83[CHB][hapmap]
rs12027762	0.83[CHB][hapmap]
rs12034645	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs12037507	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12046438	0.84[ASN][1000 genomes]
rs12048989	0.92[CHB][hapmap]
rs1542507	0.82[CHB][hapmap]
rs16842259	0.83[CHB][hapmap]
rs28370041	0.84[ASN][1000 genomes]
rs28370177	0.83[CHB][hapmap]
rs59206866	0.82[ASN][1000 genomes]
rs7538151	0.83[CHB][hapmap]
rs8179303	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs9804140	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223915200-223930800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:223915400-223927200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:223915800-223931600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:223916600-223927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:223916600-223932600	Weak transcription	Fetal Brain Female	brain
9	chr1:223917800-223922600	Enhancers	Fetal Lung	lung
10	chr1:223917800-223922800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:223918200-223923000	Enhancers	Stomach Mucosa	stomach
12	chr1:223918400-223922800	Enhancers	Fetal Heart	heart
13	chr1:223918400-223924000	Enhancers	Right Atrium	heart
14	chr1:223918600-223922600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:223918600-223922600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:223918800-223922800	Genic enhancers	Fetal Stomach	stomach
17	chr1:223919200-223935600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:223919200-223936200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:223919400-223923000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:223919400-223923200	Strong transcription	Hela-S3	cervix
21	chr1:223919600-223922600	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr1:223919600-223923000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:223919600-223924000	Strong transcription	HMEC	breast
24	chr1:223919600-223924800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:223919800-223922600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:223919800-223922800	Enhancers	Spleen	Spleen
27	chr1:223919800-223924800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:223919800-223925000	Weak transcription	HSMMtube	muscle
29	chr1:223919800-223926000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:223919800-223931200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:223920200-223922800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:223920400-223922800	Enhancers	Ovary	ovary
33	chr1:223920600-223922800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:223920600-223922800	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:223920600-223922800	Enhancers	Fetal Thymus	thymus
36	chr1:223920800-223922800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr1:223920800-223922800	Enhancers	Psoas Muscle	Psoas
38	chr1:223920800-223923000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:223921000-223922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:223921000-223922800	Genic enhancers	Fetal Intestine Small	intestine
41	chr1:223921000-223923200	Strong transcription	NHEK	skin
42	chr1:223921000-223923400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:223921000-223924000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:223921200-223923000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:223921200-223924800	Weak transcription	Placenta	Placenta
46	chr1:223921200-223927800	Genic enhancers	A549	lung
47	chr1:223921200-223932800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:223921200-223936000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:223921400-223922800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr1:223921400-223923200	Strong transcription	HSMM	muscle

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