Variant report

Variant	rs737939
Chromosome Location	chr22:30315416-30315417
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30314351..30317340-chr22:30321857..30323979,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1076135	0.82[CEU][hapmap]
rs12710565	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140145	0.85[CEU][hapmap]
rs140147	0.92[CEU][hapmap]
rs140149	0.85[CEU][hapmap]
rs1807508	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1807513	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1989870	0.92[CEU][hapmap]
rs2007446	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2007458	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2189802	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285667	0.81[EUR][1000 genomes]
rs3747149	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3747150	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788420	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41155	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41159	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41165	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes]
rs41168	0.92[CEU][hapmap]
rs41171	0.93[CEU][hapmap]
rs41173	0.93[CEU][hapmap]
rs4630869	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820824	0.89[ASN][1000 genomes]
rs55805200	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752964	0.81[CEU][hapmap]
rs5752973	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5752975	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5752978	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs5752992	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763559	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763565	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763581	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763589	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5763591	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5763614	0.87[EUR][1000 genomes]
rs5763638	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763645	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763646	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763649	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763650	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763651	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763670	0.80[EUR][1000 genomes]
rs5763671	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763688	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763775	0.89[CEU][hapmap]
rs5763779	0.92[CEU][hapmap]
rs59663694	0.80[EUR][1000 genomes]
rs5997546	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997549	0.85[EUR][1000 genomes]
rs6006288	0.85[EUR][1000 genomes]
rs6006300	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7285583	0.82[EUR][1000 genomes]
rs7289604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737908	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs737911	0.89[CEU][hapmap]
rs9306468	0.93[CEU][hapmap]
rs960987	0.86[EUR][1000 genomes]
rs997913	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
6	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
7	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
9	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
12	chr22:30310200-30321000	Weak transcription	Lung	lung
13	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
15	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:30311800-30340400	Weak transcription	HSMM	muscle
18	chr22:30312400-30316000	Weak transcription	NHEK	skin
19	chr22:30312400-30322800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:30312600-30321000	Weak transcription	Right Ventricle	heart
21	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:30313000-30323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
25	chr22:30313400-30315600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr22:30313400-30316400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30313400-30317200	Weak transcription	Ovary	ovary
28	chr22:30313600-30321000	Weak transcription	Left Ventricle	heart
29	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
31	chr22:30314200-30319600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:30314200-30319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:30314200-30321200	Weak transcription	Brain Angular Gyrus	brain
34	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:30314400-30317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:30314400-30319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:30314400-30328200	Weak transcription	Osteobl	bone
38	chr22:30314600-30315600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr22:30314600-30316000	Weak transcription	A549	lung
40	chr22:30314600-30319400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30314600-30319400	Weak transcription	Adipose Nuclei	Adipose
42	chr22:30314600-30321200	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr22:30314800-30315800	Enhancers	Psoas Muscle	Psoas
45	chr22:30314800-30319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr22:30315200-30315800	Enhancers	Colon Smooth Muscle	Colon
47	chr22:30315400-30315600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr22:30315400-30315800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30315400-30315800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:30315400-30316000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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