Variant report

Variant	rs5763645
Chromosome Location	chr22:30357801-30357802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
2	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12710565	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs140147	0.84[CEU][hapmap]
rs1807508	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807513	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989870	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs2007446	0.84[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2007458	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189802	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285667	0.88[EUR][1000 genomes]
rs3747149	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747150	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788420	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41155	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41156	0.81[EUR][1000 genomes]
rs41157	0.81[EUR][1000 genomes]
rs41158	0.86[ASN][1000 genomes]
rs41159	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41161	0.84[EUR][1000 genomes]
rs41165	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41168	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs41171	0.84[CEU][hapmap]
rs41173	0.84[CEU][hapmap]
rs4630869	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820824	1.00[ASN][1000 genomes]
rs55805200	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752973	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752975	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752978	0.88[CEU][hapmap]
rs5752992	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763559	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763565	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763581	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763589	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763591	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763614	0.82[EUR][1000 genomes]
rs5763638	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763646	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763649	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763650	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763651	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763670	0.87[EUR][1000 genomes]
rs5763671	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763688	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763775	0.84[CEU][hapmap]
rs5763779	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs59663694	0.89[EUR][1000 genomes]
rs5997546	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006300	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7289604	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73162764	0.90[EUR][1000 genomes]
rs737908	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737911	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs737939	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306468	0.84[CEU][hapmap]
rs960987	0.83[EUR][1000 genomes]
rs997913	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
2	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
3	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
8	chr22:30344200-30375000	Weak transcription	HMEC	breast
9	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
10	chr22:30344600-30358400	Weak transcription	Fetal Stomach	stomach
11	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
12	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
14	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:30345000-30358600	Weak transcription	Fetal Lung	lung
16	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
18	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
19	chr22:30345400-30370000	Weak transcription	HSMM	muscle
20	chr22:30345400-30371600	Weak transcription	Lung	lung
21	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
22	chr22:30345800-30363200	Weak transcription	Liver	Liver
23	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
24	chr22:30347200-30369600	Weak transcription	Pancreas	Pancrea
25	chr22:30347600-30359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:30347600-30360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:30348200-30363200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:30348400-30366200	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:30348400-30373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:30348600-30358400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:30348600-30366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:30348800-30367200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:30349400-30366200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:30349400-30370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:30349600-30358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:30349600-30360000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:30349800-30367600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:30350000-30367800	Weak transcription	Brain Substantia Nigra	brain
41	chr22:30350600-30375400	Weak transcription	GM12878-XiMat	blood
42	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
43	chr22:30350800-30367600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:30351000-30359600	Weak transcription	Stomach Mucosa	stomach
45	chr22:30351200-30359600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:30351200-30387400	Weak transcription	Ovary	ovary
48	chr22:30352000-30369600	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:30352600-30358400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:30352600-30371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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