Variant report

Variant	rs2214047
Chromosome Location	chr22:30556101-30556102
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1122239	0.83[ASN][1000 genomes]
rs1160671	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12233358	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12483946	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs12484547	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12484740	1.00[CEU][hapmap]
rs12484983	0.81[CHB][hapmap]
rs12537	0.82[CHD][hapmap]
rs13053765	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13054837	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055998	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs13056332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056990	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13057204	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13057580	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057733	0.82[ASN][1000 genomes]
rs13057878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476514	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010916	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012308	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2106430	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2106722	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2412961	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs2412977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412979	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34391152	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34420020	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34474867	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067150	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35539897	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35710453	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36018230	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788422	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs4820829	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823067	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4823071	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4823080	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs4823081	0.89[EUR][1000 genomes]
rs4823082	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5753002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753013	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753015	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753019	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753020	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753022	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753027	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753028	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753029	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753046	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5753048	1.00[CEU][hapmap]
rs5763681	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs5763695	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs5763701	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs5763734	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763742	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763748	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763749	0.85[ASN][1000 genomes]
rs5763750	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763758	0.91[ASN][1000 genomes]
rs5763759	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763763	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763766	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763769	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763774	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763782	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763787	0.91[ASN][1000 genomes]
rs5763788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763801	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763805	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763810	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763825	0.97[ASN][1000 genomes]
rs5763852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763872	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006393	0.92[CHB][hapmap];0.94[GIH][hapmap];0.84[ASN][1000 genomes]
rs718773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7286304	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7288576	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739616	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757026	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs766011	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8142101	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs916807	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs975704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30553800-30558200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30554600-30556400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:30554600-30557200	Enhancers	Fetal Thymus	thymus
4	chr22:30554800-30557600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30555000-30556400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr22:30555000-30557200	Enhancers	A549	lung
7	chr22:30555000-30557600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr22:30555200-30556200	Enhancers	NHLF	lung
9	chr22:30555200-30556400	Enhancers	Liver	Liver
10	chr22:30555200-30556400	Enhancers	Hela-S3	cervix
11	chr22:30555200-30556400	Enhancers	NH-A	brain
12	chr22:30555200-30556600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:30555200-30556600	Enhancers	Osteobl	bone
14	chr22:30555200-30557600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30555400-30556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:30555400-30556400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:30555400-30556400	Enhancers	HepG2	liver
18	chr22:30555400-30556400	Enhancers	HSMM	muscle
19	chr22:30555400-30556400	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr22:30555400-30556800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:30555400-30557400	Enhancers	Primary hematopoietic stem cells	blood
22	chr22:30555400-30558600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:30555600-30556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr22:30555600-30556200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr22:30555600-30556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:30555600-30556200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr22:30555600-30556200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30555600-30556200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:30555600-30556200	Enhancers	Fetal Muscle Leg	muscle
30	chr22:30555600-30556200	Enhancers	NHEK	skin
31	chr22:30555600-30556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30555600-30556400	Enhancers	HMEC	breast
33	chr22:30555600-30556400	Enhancers	HSMMtube	muscle
34	chr22:30555600-30556600	Enhancers	Fetal Lung	lung
35	chr22:30555600-30557400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:30555600-30557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:30555600-30558200	Enhancers	Thymus	Thymus
38	chr22:30555800-30556200	Enhancers	Adipose Nuclei	Adipose
39	chr22:30555800-30556200	Enhancers	Brain Anterior Caudate	brain
40	chr22:30555800-30556200	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:30555800-30556400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr22:30555800-30556400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr22:30555800-30556400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:30555800-30557200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr22:30555800-30558200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr22:30556000-30556200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:30556000-30556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:30556000-30556400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:30556000-30556400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:30556000-30556400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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