Variant report

Variant	rs13004862
Chromosome Location	chr2:98441362-98441363
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10166513	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10167772	0.83[ASN][1000 genomes]
rs10168543	0.89[ASN][1000 genomes]
rs10175129	0.83[ASN][1000 genomes]
rs10180434	0.83[ASN][1000 genomes]
rs10180722	0.86[EUR][1000 genomes]
rs10183768	0.83[ASN][1000 genomes]
rs10187061	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10188497	0.89[ASN][1000 genomes]
rs10188713	0.89[ASN][1000 genomes]
rs10189414	0.83[ASN][1000 genomes]
rs10191101	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10191483	0.82[AMR][1000 genomes]
rs10202138	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10206684	0.83[ASN][1000 genomes]
rs10210520	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11893437	0.80[ASN][1000 genomes]
rs11894541	0.83[ASN][1000 genomes]
rs11894895	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11897301	0.89[ASN][1000 genomes]
rs12712117	0.89[ASN][1000 genomes]
rs12712120	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712172	0.83[ASN][1000 genomes]
rs12992955	0.83[ASN][1000 genomes]
rs13000585	0.83[ASN][1000 genomes]
rs13008904	0.83[ASN][1000 genomes]
rs13010004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446327	0.89[ASN][1000 genomes]
rs1960329	0.89[ASN][1000 genomes]
rs1982336	0.89[ASN][1000 genomes]
rs2121271	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34190123	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34305873	0.80[ASN][1000 genomes]
rs34414288	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35185431	0.89[ASN][1000 genomes]
rs35203092	0.89[ASN][1000 genomes]
rs35776557	0.80[ASN][1000 genomes]
rs35807655	0.83[ASN][1000 genomes]
rs3821053	0.89[ASN][1000 genomes]
rs55753459	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6543088	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6543111	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6712078	0.89[ASN][1000 genomes]
rs6721323	0.83[ASN][1000 genomes]
rs6728312	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6751727	0.83[ASN][1000 genomes]
rs6755021	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6760008	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6875	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71429373	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs718159	0.89[ASN][1000 genomes]
rs7557495	0.83[ASN][1000 genomes]
rs7570009	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7582298	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7593290	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7594928	0.83[ASN][1000 genomes]
rs7595039	0.89[ASN][1000 genomes]
rs7599043	0.83[ASN][1000 genomes]
rs9973490	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	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
5	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv961841	chr2:98437476-98446329	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
2	chr2:98406400-98469200	Weak transcription	A549	lung
3	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
4	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
5	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
6	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
7	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
10	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
13	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus
16	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:98426000-98445400	Weak transcription	Gastric	stomach
18	chr2:98426000-98456800	Weak transcription	Right Ventricle	heart
19	chr2:98426200-98456800	Weak transcription	Pancreas	Pancrea
20	chr2:98426400-98456200	Weak transcription	NHEK	skin
21	chr2:98426400-98456800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:98428000-98466600	Weak transcription	K562	blood
23	chr2:98428200-98456600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:98428400-98447400	Weak transcription	Psoas Muscle	Psoas
25	chr2:98428600-98447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:98428600-98448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:98428600-98456000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:98428600-98456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
30	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
31	chr2:98428800-98485000	Weak transcription	NHLF	lung
32	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:98429200-98448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:98429200-98448800	Weak transcription	Fetal Kidney	kidney
35	chr2:98429200-98456600	Weak transcription	Fetal Lung	lung
36	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:98430200-98445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:98430600-98456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:98430600-98456800	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:98430800-98445400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:98430800-98448800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:98430800-98448800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:98430800-98448800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:98430800-98449000	Weak transcription	HMEC	breast
45	chr2:98430800-98456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:98430800-98456000	Weak transcription	Ovary	ovary
47	chr2:98431000-98448600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:98431000-98452400	Weak transcription	Placenta	Placenta
49	chr2:98431000-98466400	Weak transcription	NH-A	brain
50	chr2:98431800-98442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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