Variant report

Variant	rs4311104
Chromosome Location	chr2:98424802-98424803
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	chr2:98401517..98404238-chr2:98424801..98426303,2	K562	blood:
2	chr2:98424321..98425194-chr2:98885366..98886224,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10432626	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11678558	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11678591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679828	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680018	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680321	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680883	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11681535	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686881	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs11687510	0.86[CEU][hapmap]
rs11688829	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11690687	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690737	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692470	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692671	0.83[EUR][1000 genomes]
rs12052222	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052836	0.82[ASN][1000 genomes]
rs12052846	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12104810	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988571	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12995673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13004090	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13006932	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13008968	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13023980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028954	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032883	0.81[EUR][1000 genomes]
rs13033383	0.91[CEU][hapmap]
rs13034929	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1470483	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17488834	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs17488897	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17489287	0.82[CEU][hapmap]
rs17489454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489984	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17490429	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1838797	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044459	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2084176	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2278700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305143	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192177	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34149969	0.88[EUR][1000 genomes]
rs34373359	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34502870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528940	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34654057	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34974566	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35098301	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35218942	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35255677	0.81[EUR][1000 genomes]
rs35424768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505530	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783535	0.81[EUR][1000 genomes]
rs4851462	0.83[EUR][1000 genomes]
rs55776387	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55886305	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57681139	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58546246	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62156511	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710088	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738389	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746768	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748124	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757357	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71412824	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs717417	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7421146	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7564773	0.83[ASN][1000 genomes]
rs7583868	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7601898	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895438	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs953320	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
6	chr2:98406200-98427200	Weak transcription	K562	blood
7	chr2:98406400-98469200	Weak transcription	A549	lung
8	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
10	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
12	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
13	chr2:98410000-98425200	Weak transcription	Gastric	stomach
14	chr2:98410000-98425400	Weak transcription	Pancreas	Pancrea
15	chr2:98410000-98425800	Weak transcription	NH-A	brain
16	chr2:98410000-98427000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:98410000-98427200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:98410000-98427200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:98410000-98427400	Weak transcription	HSMMtube	muscle
20	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
21	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
23	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
24	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
27	chr2:98410200-98427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:98410800-98432000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:98411000-98429200	Strong transcription	HSMM	muscle
30	chr2:98411400-98427200	Weak transcription	Fetal Brain Male	brain
31	chr2:98414200-98426200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:98416400-98425400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:98418200-98425200	Weak transcription	NHLF	lung
34	chr2:98420400-98427600	Weak transcription	Fetal Kidney	kidney
35	chr2:98421400-98427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:98421800-98425000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:98421800-98425000	Weak transcription	Left Ventricle	heart
38	chr2:98422000-98425400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:98422000-98425600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:98422000-98426000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:98422000-98428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:98422000-98436200	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:98422200-98425000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:98422200-98425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:98422200-98426600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:98422200-98427600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:98422200-98428800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:98422600-98425000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:98422600-98425200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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