Variant report

Variant	rs3887275
Chromosome Location	chr22:30300112-30300113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30294545..30297116-chr22:30298361..30301240,2	K562	blood:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
3	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
4	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:

Variant related genes	Relation type
ENSG00000207455	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1071888	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076137	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs12168552	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12171061	0.81[EUR][1000 genomes]
rs12537	0.80[CEU][hapmap]
rs131278	0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap]
rs131291	0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap]
rs131296	0.87[CEU][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap]
rs140105	0.83[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap]
rs140108	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs140135	0.87[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs140151	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs17643918	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1807509	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193473	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs193481	0.82[EUR][1000 genomes]
rs2017677	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051764	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105870	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2349225	0.91[CEU][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap]
rs2412960	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2412963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28257	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34862234	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35705048	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36578	0.89[JPT][hapmap];0.80[YRI][hapmap]
rs36580	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36586	0.80[EUR][1000 genomes]
rs36590	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36591	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36594	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36596	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36598	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36601	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36604	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36605	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36606	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36607	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3958025	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39712	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41162	0.95[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs41164	0.91[CEU][hapmap]
rs41172	0.83[CEU][hapmap]
rs41174	0.82[CEU][hapmap]
rs41175	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41179	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4239932	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820820	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820822	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4823055	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4823063	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4993442	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752968	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs5752986	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752988	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752993	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763630	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763634	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763644	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763674	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763675	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763680	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763689	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715523	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286070	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7292615	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737904	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs737909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737912	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8136147	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139994	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8141404	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs8141680	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620926	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625873	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625874	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625879	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1833074	chr22:30294744-30300521	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
13	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
14	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
15	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
19	chr22:30294800-30301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
21	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
23	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:30296200-30300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine
29	chr22:30297800-30302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:30297800-30303000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30297800-30303000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:30297800-30303400	Weak transcription	Adipose Nuclei	Adipose
33	chr22:30298000-30300200	Weak transcription	K562	blood
34	chr22:30298000-30302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:30298000-30302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:30298000-30303400	Weak transcription	Brain Substantia Nigra	brain
37	chr22:30298000-30303400	Weak transcription	Fetal Lung	lung
38	chr22:30298000-30303600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr22:30298000-30303600	Weak transcription	NHLF	lung
40	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr22:30298200-30303400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:30298200-30304000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr22:30298800-30303800	Weak transcription	Primary B cells from cord blood	blood
44	chr22:30299000-30300200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:30299000-30300800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:30299000-30303000	Weak transcription	Osteobl	bone
47	chr22:30299000-30303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr22:30299000-30303600	Weak transcription	Brain Germinal Matrix	brain
49	chr22:30299400-30300800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr22:30299400-30301400	Enhancers	Left Ventricle	heart

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