Variant report

Variant	rs2121271
Chromosome Location	chr2:98383893-98383894
allele	C/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	chr2:98383876-98384281	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98382337..98383997-chr2:98389933..98392351,2	K562	blood:
2	chr2:98378430..98380817-chr2:98383033..98385975,2	MCF-7	breast:

Variant related genes	Relation type
TMEM131	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10166513	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10167772	0.94[ASN][1000 genomes]
rs10168543	1.00[ASN][1000 genomes]
rs10175129	0.94[ASN][1000 genomes]
rs10176826	0.85[CHB][hapmap]
rs10180434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10180722	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10183768	0.94[ASN][1000 genomes]
rs10184457	0.85[CHB][hapmap]
rs10187061	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10188497	1.00[ASN][1000 genomes]
rs10188713	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10189414	0.94[ASN][1000 genomes]
rs10191101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191483	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs10192322	0.82[CHB][hapmap]
rs10202138	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10206684	0.94[ASN][1000 genomes]
rs10209970	0.88[ASN][1000 genomes]
rs10210520	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210880	0.88[ASN][1000 genomes]
rs11886417	0.88[ASN][1000 genomes]
rs11893437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11894541	0.94[ASN][1000 genomes]
rs11894895	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897301	1.00[ASN][1000 genomes]
rs12712117	1.00[ASN][1000 genomes]
rs12712120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712162	0.88[ASN][1000 genomes]
rs12712163	0.81[ASN][1000 genomes]
rs12712172	0.94[ASN][1000 genomes]
rs12992955	0.94[ASN][1000 genomes]
rs13000585	0.94[ASN][1000 genomes]
rs13004862	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008904	0.94[ASN][1000 genomes]
rs13009300	0.82[AMR][1000 genomes]
rs13010004	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446327	1.00[ASN][1000 genomes]
rs17489259	0.83[AMR][1000 genomes]
rs1960329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982336	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2293679	0.85[CHB][hapmap]
rs34190123	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34305873	0.91[ASN][1000 genomes]
rs34414288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469351	0.84[ASN][1000 genomes]
rs34635139	0.82[AMR][1000 genomes]
rs35185431	1.00[ASN][1000 genomes]
rs35203092	1.00[ASN][1000 genomes]
rs35263587	0.80[AMR][1000 genomes]
rs35776557	0.90[ASN][1000 genomes]
rs35807655	0.94[ASN][1000 genomes]
rs35940587	0.88[ASN][1000 genomes]
rs36079497	0.88[ASN][1000 genomes]
rs3821053	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55753459	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543111	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6707719	0.85[CHB][hapmap]
rs6712078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6718982	0.88[ASN][1000 genomes]
rs6721323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6728312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738401	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6751727	0.94[ASN][1000 genomes]
rs6755021	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6756969	0.88[ASN][1000 genomes]
rs6760008	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68115667	0.88[ASN][1000 genomes]
rs6875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71429373	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs718159	1.00[ASN][1000 genomes]
rs7557495	0.94[ASN][1000 genomes]
rs7570009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578638	0.88[ASN][1000 genomes]
rs7582298	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7588227	0.88[ASN][1000 genomes]
rs7593290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594928	0.94[ASN][1000 genomes]
rs7595039	1.00[ASN][1000 genomes]
rs7599043	0.94[ASN][1000 genomes]
rs7605288	0.88[ASN][1000 genomes]
rs9808558	0.85[CHB][hapmap]
rs9973490	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98366400-98384600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:98367200-98385000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:98369800-98384800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:98370400-98386400	Strong transcription	Fetal Intestine Small	intestine
11	chr2:98370600-98384400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:98370600-98384400	Strong transcription	Placenta	Placenta
13	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
16	chr2:98370800-98384200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:98370800-98384400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:98370800-98384400	Strong transcription	Fetal Stomach	stomach
19	chr2:98371000-98384800	Strong transcription	Fetal Intestine Large	intestine
20	chr2:98371200-98384400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:98371200-98384400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr2:98371200-98387400	Strong transcription	Liver	Liver
23	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
24	chr2:98371800-98384200	Strong transcription	Thymus	Thymus
25	chr2:98371800-98384400	Strong transcription	NHLF	lung
26	chr2:98372200-98384600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:98372400-98384400	Strong transcription	HepG2	liver
28	chr2:98373200-98384400	Strong transcription	Ovary	ovary
29	chr2:98373200-98384400	Strong transcription	Pancreas	Pancrea
30	chr2:98373400-98384400	Strong transcription	Aorta	Aorta
31	chr2:98373800-98390400	Weak transcription	K562	blood
32	chr2:98375200-98384400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:98375800-98386600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:98376600-98384600	Weak transcription	Hela-S3	cervix
35	chr2:98377200-98394400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr2:98377400-98384200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:98377600-98384200	Strong transcription	Primary T cells from cord blood	blood
40	chr2:98378200-98389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:98378400-98384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:98378600-98384400	Strong transcription	Fetal Thymus	thymus
43	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:98379800-98385800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:98380200-98384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:98380600-98384400	Genic enhancers	Left Ventricle	heart
47	chr2:98380600-98384600	Strong transcription	GM12878-XiMat	blood
48	chr2:98380600-98385200	Strong transcription	NHEK	skin
49	chr2:98380800-98384400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:98380800-98384800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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