Variant report

Variant	rs2589098
Chromosome Location	chr2:55485392-55485393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55480502..55483270-chr2:55485037..55488051,3	K562	blood:
2	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
3	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10176839	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10183953	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10439479	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[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[AFR][1000 genomes];0.87[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	0.87[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];0.87[EUR][1000 genomes]
rs1437392	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1561231	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1561232	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1561233	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17046834	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2028138	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2043714	1.00[JPT][hapmap];0.87[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[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2164715	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[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	0.97[EUR][1000 genomes];0.89[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[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2589082	1.00[CEU][hapmap];1.00[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];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2589083	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2589097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2589099	1.00[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];0.87[EUR][1000 genomes]
rs4591380	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6545476	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs6545479	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[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];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][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];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6715694	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6716066	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6718747	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6719579	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6723870	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[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];0.87[EUR][1000 genomes]
rs6750501	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9784090	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	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
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
5	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
7	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
10	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:55465600-55486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:55468800-55493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:55468800-55494400	Strong transcription	Liver	Liver
26	chr2:55469400-55492600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
29	chr2:55473600-55490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:55475400-55490000	Weak transcription	Gastric	stomach
31	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
32	chr2:55476600-55490000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
34	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
35	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
36	chr2:55476800-55490200	Weak transcription	Spleen	Spleen
37	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
38	chr2:55477000-55490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:55478400-55493400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:55478400-55494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:55478800-55488200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:55478800-55489200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:55478800-55494200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:55479000-55493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:55479200-55485600	Strong transcription	Primary B cells from cord blood	blood
46	chr2:55479800-55487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:55480000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:55480200-55489200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:55480200-55490600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:55480400-55487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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