Variant report

Variant	rs2267131
Chromosome Location	chr22:29190471-29190472
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29162995..29164989-chr22:29188685..29191039,2	MCF-7	breast:
2	chr22:29188183..29190691-chr22:29223821..29225664,2	K562	blood:
3	chr22:28986053..28988845-chr22:29188910..29191071,2	K562	blood:
4	chr22:29137327..29140027-chr22:29189364..29191172,3	MCF-7	breast:
5	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
6	chr22:29134319..29139472-chr22:29186598..29194420,8	K562	blood:
7	chr22:29189258..29191243-chr22:29893230..29895527,2	K562	blood:
8	chr22:29002103..29004832-chr22:29188346..29190789,2	MCF-7	breast:
9	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
10	chr22:29166664..29171376-chr22:29189061..29194611,6	MCF-7	breast:
11	chr22:28995890..28998730-chr22:29188380..29190809,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159873	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053879	0.85[EUR][1000 genomes]
rs13056243	0.94[CEU][hapmap]
rs13056546	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13058031	1.00[CEU][hapmap]
rs16986825	0.94[CEU][hapmap]
rs16986838	0.88[CEU][hapmap]
rs16986861	0.88[CEU][hapmap]
rs16986864	0.94[CEU][hapmap]
rs16987024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987027	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235431	0.93[EUR][1000 genomes]
rs2236141	0.88[EUR][1000 genomes]
rs2269578	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28458474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881634	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34206997	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34298044	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34573837	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34718288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751572	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35017742	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35829597	0.86[EUR][1000 genomes]
rs35905502	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36112964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4055	0.94[CEU][hapmap]
rs5752790	0.88[EUR][1000 genomes]
rs5752794	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752796	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752806	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752810	0.83[CEU][hapmap]
rs5752811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752815	0.83[CEU][hapmap]
rs5752816	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762767	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs5762774	0.88[EUR][1000 genomes]
rs5762780	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs5762794	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762809	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762812	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762814	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762817	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762820	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762839	0.83[CEU][hapmap]
rs5762848	0.83[CEU][hapmap]
rs5762857	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60468718	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66471734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71327317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170633	0.91[EUR][1000 genomes]
rs739196	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:29173800-29193000	Weak transcription	Right Atrium	heart
3	chr22:29180400-29191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29180600-29191000	Weak transcription	Small Intestine	intestine
5	chr22:29181600-29191000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:29182000-29191000	Weak transcription	Fetal Brain Male	brain
7	chr22:29182400-29190800	Weak transcription	Gastric	stomach
8	chr22:29182400-29191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:29182600-29190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:29182600-29191000	Weak transcription	Ovary	ovary
11	chr22:29182600-29191200	Weak transcription	Esophagus	oesophagus
12	chr22:29183600-29191000	Weak transcription	Spleen	Spleen
13	chr22:29183800-29191000	Weak transcription	Aorta	Aorta
14	chr22:29184200-29190600	Weak transcription	Brain Germinal Matrix	brain
15	chr22:29186200-29190600	Weak transcription	Pancreas	Pancrea
16	chr22:29187400-29193000	Strong transcription	Fetal Brain Female	brain
17	chr22:29188200-29192200	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:29188200-29193000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr22:29188200-29194200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr22:29188400-29191200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:29188400-29191400	Strong transcription	Adipose Nuclei	Adipose
22	chr22:29188400-29191600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:29188400-29193600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:29188400-29194200	Strong transcription	Fetal Stomach	stomach
25	chr22:29188600-29191200	Strong transcription	Osteobl	bone
26	chr22:29188600-29191600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:29188600-29192800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:29188600-29193200	Strong transcription	Lung	lung
29	chr22:29188600-29194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29188800-29190600	Strong transcription	Fetal Intestine Small	intestine
31	chr22:29188800-29191200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr22:29188800-29191400	Strong transcription	Placenta	Placenta
33	chr22:29188800-29191800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29188800-29192600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr22:29188800-29192800	Strong transcription	NH-A	brain
36	chr22:29188800-29194000	Strong transcription	Fetal Muscle Leg	muscle
37	chr22:29188800-29194200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:29188800-29194200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:29189000-29191200	Strong transcription	Primary T cells from cord blood	blood
40	chr22:29189000-29191200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr22:29189000-29191400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:29189000-29191600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:29189000-29194200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:29189000-29195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:29189200-29191200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr22:29189200-29192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:29189200-29193400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr22:29189200-29193800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr22:29189200-29194000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29189200-29194000	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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