Variant report

Variant	rs9625886
Chromosome Location	chr22:30319749-30319750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10222281	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090584	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090591	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090592	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090597	0.81[AMR][1000 genomes]
rs11703553	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11703815	0.87[EUR][1000 genomes]
rs11704206	0.83[ASN][1000 genomes]
rs11704885	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705048	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11705191	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11705207	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705418	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12158466	0.80[CHB][hapmap]
rs12159277	0.80[CHB][hapmap]
rs12165769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166998	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12169823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330007	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12330076	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627866	0.80[CHB][hapmap]
rs12627944	0.87[ASN][1000 genomes]
rs12628395	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12628545	0.80[CHB][hapmap]
rs14115	0.80[CHB][hapmap]
rs16988049	0.80[CHB][hapmap]
rs17644868	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644886	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647135	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17711461	0.80[CHB][hapmap]
rs17711508	0.80[CHB][hapmap]
rs17713646	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240364	0.80[CHB][hapmap]
rs2240365	0.80[CHB][hapmap]
rs2240366	0.80[CHB][hapmap]
rs28520101	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28635872	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34647160	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997520	0.80[CHB][hapmap]
rs7285169	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7285800	0.80[CHB][hapmap]
rs737905	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs740116	0.80[CHB][hapmap]
rs916782	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9614123	1.00[JPT][hapmap]
rs9620928	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620936	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620944	0.81[AMR][1000 genomes]
rs9620948	0.81[AMR][1000 genomes]
rs9625883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625887	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625894	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625895	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625896	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625899	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625910	0.81[AMR][1000 genomes]
rs9625914	0.81[AMR][1000 genomes]
rs9625930	0.81[AMR][1000 genomes]

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	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	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
5	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
6	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:30310200-30321000	Weak transcription	Lung	lung
8	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
10	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:30311800-30340400	Weak transcription	HSMM	muscle
13	chr22:30312400-30322800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30312600-30321000	Weak transcription	Right Ventricle	heart
15	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30313000-30323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
19	chr22:30313600-30321000	Weak transcription	Left Ventricle	heart
20	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
22	chr22:30314200-30321200	Weak transcription	Brain Angular Gyrus	brain
23	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:30314400-30328200	Weak transcription	Osteobl	bone
25	chr22:30314600-30321200	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:30315800-30321000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:30316000-30320200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:30318000-30321000	Weak transcription	Ovary	ovary
30	chr22:30318000-30321600	Weak transcription	Fetal Intestine Small	intestine
31	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30318800-30319800	Enhancers	Psoas Muscle	Psoas
33	chr22:30319000-30319800	Weak transcription	Stomach Mucosa	stomach
34	chr22:30319400-30319800	Enhancers	Right Atrium	heart
35	chr22:30319400-30320400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr22:30319400-30320400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:30319400-30320400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:30319400-30321400	Enhancers	Adipose Nuclei	Adipose
39	chr22:30319600-30319800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr22:30319600-30319800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr22:30319600-30319800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:30319600-30320000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr22:30319600-30320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr22:30319600-30320600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:30319600-30321400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:30319600-30321400	Enhancers	Colon Smooth Muscle	Colon

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