Variant report

Variant	rs17644868
Chromosome Location	chr22:30331498-30331499
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	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1001318	1.00[YRI][hapmap]
rs10222281	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483156	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090584	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090591	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11703553	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11703815	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11704206	0.83[ASN][1000 genomes]
rs11704885	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705048	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11705191	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11705207	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705418	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12165769	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166755	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166998	0.87[ASN][1000 genomes]
rs12169823	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330007	0.87[ASN][1000 genomes]
rs12330076	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627856	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627944	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12628395	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16987142	1.00[YRI][hapmap]
rs17644886	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17713646	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520101	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28635872	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34647160	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747148	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788418	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788425	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7285169	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737906	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737907	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739615	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs916782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620929	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620935	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620936	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625883	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625886	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625887	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625889	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625894	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625895	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625896	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625899	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30311800-30340400	Weak transcription	HSMM	muscle
4	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
6	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
8	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:30321400-30339800	Weak transcription	Lung	lung
14	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
16	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:30327600-30331800	Weak transcription	Pancreas	Pancrea
18	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
19	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
20	chr22:30328400-30332000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr22:30328600-30332200	Weak transcription	Adipose Nuclei	Adipose
25	chr22:30328600-30332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:30328800-30333400	Weak transcription	GM12878-XiMat	blood
27	chr22:30329000-30332000	Weak transcription	HUVEC	blood vessel
28	chr22:30329200-30331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30329800-30332200	Weak transcription	Brain Anterior Caudate	brain
30	chr22:30330400-30331800	Weak transcription	Left Ventricle	heart
31	chr22:30330400-30331800	Weak transcription	Psoas Muscle	Psoas
32	chr22:30330400-30332000	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:30330400-30333800	Weak transcription	Right Atrium	heart
34	chr22:30330600-30331600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:30330600-30331600	Weak transcription	A549	lung
36	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:30331200-30331800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr22:30331200-30332600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr22:30331200-30332600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:30331200-30332800	Enhancers	Stomach Mucosa	stomach
42	chr22:30331200-30334800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:30331400-30331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:30331400-30331600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr22:30331400-30331600	Enhancers	Ovary	ovary
46	chr22:30331400-30331800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:30331400-30333800	Weak transcription	Brain Substantia Nigra	brain

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