Variant report

Variant	rs7585724
Chromosome Location	chr2:30377055-30377056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:30376221-30377409	A549	lung:	n/a	n/a
2	POLR2A	chr2:30376883-30377415	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:30376993-30377079	IMR90	lung:	n/a	n/a
4	POLR2A	chr2:30376647-30377457	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:
2	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
3	chr2:30376508..30379108-chr2:30379588..30381251,2	K562	blood:
4	chr2:30375240..30377152-chr2:30455501..30457902,2	K562	blood:

Variant related genes	Relation type
YPEL5	TF binding region
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction
ENSG00000233862	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12052275	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1345151	0.85[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1374724	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1509576	0.92[ASN][1000 genomes]
rs1509579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009154	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17009178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17009181	1.00[EUR][1000 genomes]
rs1947144	0.81[ASN][1000 genomes]
rs2361751	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768668	1.00[EUR][1000 genomes]
rs3768669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768671	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3886897	0.80[ASN][1000 genomes]
rs4332963	0.80[ASN][1000 genomes]
rs4603808	0.80[ASN][1000 genomes]
rs4951982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952093	0.94[EUR][1000 genomes]
rs4952094	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56696610	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57641749	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6547994	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6547997	0.81[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6710956	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6718385	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6719849	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6739748	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6752385	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7558465	0.86[ASN][1000 genomes]
rs7585317	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7596566	0.80[ASN][1000 genomes]
rs7603389	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608690	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs935486	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.94[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371000-30380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:30371000-30380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:30371400-30380000	Weak transcription	Esophagus	oesophagus
4	chr2:30371400-30380000	Weak transcription	Dnd41	blood
5	chr2:30371400-30380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:30371600-30380200	Weak transcription	Colonic Mucosa	Colon
8	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:30372200-30378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:30372400-30378400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:30372800-30377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:30372800-30378600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:30372800-30378600	Weak transcription	Stomach Mucosa	stomach
14	chr2:30372800-30379600	Weak transcription	Fetal Stomach	stomach
15	chr2:30372800-30379600	Weak transcription	Lung	lung
16	chr2:30372800-30380200	Weak transcription	Fetal Brain Male	brain
17	chr2:30373000-30377400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:30373000-30379600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:30373200-30378600	Weak transcription	Fetal Kidney	kidney
20	chr2:30373200-30379400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:30373200-30379600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:30373200-30379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:30373200-30379800	Weak transcription	Fetal Brain Female	brain
24	chr2:30373200-30380200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:30373200-30380400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:30373400-30378800	Weak transcription	Left Ventricle	heart
28	chr2:30373400-30379200	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:30373400-30380200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:30373400-30381400	Weak transcription	HMEC	breast
31	chr2:30373600-30378800	Weak transcription	NHEK	skin
32	chr2:30373800-30377800	Weak transcription	HUVEC	blood vessel
33	chr2:30373800-30378000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:30373800-30379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:30373800-30379600	Weak transcription	Fetal Lung	lung
36	chr2:30373800-30380200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:30373800-30380600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:30373800-30385200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:30374000-30377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:30374000-30377600	Weak transcription	Small Intestine	intestine
41	chr2:30374000-30378000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:30374000-30378200	Weak transcription	A549	lung
43	chr2:30374000-30378400	Weak transcription	HepG2	liver
44	chr2:30374000-30378600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:30374000-30378800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:30374000-30378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:30374000-30379000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:30374000-30379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:30374000-30379400	Weak transcription	Ovary	ovary
50	chr2:30374000-30379400	Weak transcription	Rectal Mucosa Donor 29	rectum

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