Variant report

Variant	rs2589082
Chromosome Location	chr2:55472362-55472363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55424063..55425912-chr2:55471234..55472747,2	K562	blood:
2	chr2:55471561..55473794-chr2:55479566..55481301,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10176839	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10183953	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10439479	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694920	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[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11892007	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11904107	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12104902	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12105731	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12470507	1.00[YRI][hapmap]
rs12617316	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12713290	0.84[EUR][1000 genomes]
rs13031346	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1437387	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1437388	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1437389	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1437392	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1561231	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1561232	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1561233	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17046834	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2028138	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2043714	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2118283	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2164715	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2249856	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2289168	0.82[JPT][hapmap]
rs2576692	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2576693	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2576699	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2576702	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2576723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589060	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2589061	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2589063	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2589081	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589097	0.97[EUR][1000 genomes]
rs2589098	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2589099	0.89[ASN][1000 genomes]
rs2589111	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2589113	0.82[JPT][hapmap]
rs2966465	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2968816	0.82[JPT][hapmap]
rs2968820	0.82[JPT][hapmap]
rs2972087	0.82[JPT][hapmap]
rs4233959	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs4591380	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs6545476	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs6545479	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6545482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6545484	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6713058	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs6715694	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6716066	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs6718747	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6719579	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6723870	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6726732	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6733567	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6746287	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6747682	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6750501	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6754605	1.00[AMR][1000 genomes]
rs9784090	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:55461400-55477600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55461600-55477000	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:55461600-55481600	Strong transcription	Fetal Thymus	thymus
4	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
6	chr2:55461800-55472400	Weak transcription	Gastric	stomach
7	chr2:55461800-55472400	Weak transcription	Right Ventricle	heart
8	chr2:55461800-55474400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
11	chr2:55462000-55472600	Weak transcription	Fetal Heart	heart
12	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:55462200-55473200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
15	chr2:55462400-55476800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:55462400-55476800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:55463000-55477600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:55463000-55480200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:55463000-55481000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:55463200-55481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:55463400-55472400	Weak transcription	Lung	lung
24	chr2:55463400-55472400	Weak transcription	Ovary	ovary
25	chr2:55463400-55474200	Weak transcription	Aorta	Aorta
26	chr2:55463400-55475800	Weak transcription	Spleen	Spleen
27	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
28	chr2:55463600-55472400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:55463600-55474800	Weak transcription	Thymus	Thymus
30	chr2:55463600-55483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:55463800-55475400	Weak transcription	Esophagus	oesophagus
32	chr2:55463800-55479600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:55464000-55476200	Weak transcription	Fetal Kidney	kidney
38	chr2:55464200-55473600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:55464400-55472400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:55464400-55472400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:55464400-55476200	Weak transcription	Brain Angular Gyrus	brain
42	chr2:55464400-55479600	Weak transcription	NHLF	lung
43	chr2:55464600-55475600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:55464600-55476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:55464600-55476200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:55464600-55479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:55464800-55472600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:55465600-55473200	Weak transcription	HUVEC	blood vessel

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