Variant report

Variant	rs12994482
Chromosome Location	chr2:190172399-190172400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10166385	0.89[EUR][1000 genomes]
rs10167242	0.95[EUR][1000 genomes]
rs10172607	0.89[EUR][1000 genomes]
rs10173224	0.89[EUR][1000 genomes]
rs10184895	0.90[EUR][1000 genomes]
rs10188246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210634	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10804029	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931403	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931405	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931411	0.85[ASN][1000 genomes]
rs10931417	0.85[ASN][1000 genomes]
rs11676905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677167	0.85[ASN][1000 genomes]
rs12474942	0.89[EUR][1000 genomes]
rs12621657	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12693539	0.80[ASN][1000 genomes]
rs13015207	0.80[ASN][1000 genomes]
rs13018252	0.84[ASN][1000 genomes]
rs13035381	0.85[ASN][1000 genomes]
rs13408928	0.89[EUR][1000 genomes]
rs13411992	0.89[EUR][1000 genomes]
rs13413518	0.89[EUR][1000 genomes]
rs1356976	0.84[ASN][1000 genomes]
rs1474000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1520854	0.80[ASN][1000 genomes]
rs1520856	0.84[ASN][1000 genomes]
rs1851104	0.82[ASN][1000 genomes]
rs1992295	0.80[ASN][1000 genomes]
rs2351632	0.89[EUR][1000 genomes]
rs2351635	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351932	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2683012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4580411	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667270	0.89[EUR][1000 genomes]
rs4667275	0.87[ASN][1000 genomes]
rs4667280	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6434334	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434337	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434342	0.84[ASN][1000 genomes]
rs6704568	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6738193	0.80[ASN][1000 genomes]
rs6752545	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6761868	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7422875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556928	0.85[ASN][1000 genomes]
rs7566093	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7574281	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574403	0.80[ASN][1000 genomes]
rs7603704	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs939158	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9677436	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961541	chr2:190172230-190181918	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190168400-190176200	Weak transcription	Pancreas	Pancrea
2	chr2:190169800-190174000	Weak transcription	Dnd41	blood
3	chr2:190170200-190176400	Weak transcription	Fetal Thymus	thymus
4	chr2:190170400-190173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:190171000-190174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:190171200-190172800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:190171200-190176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:190171400-190172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190171400-190173600	Weak transcription	Stomach Mucosa	stomach
10	chr2:190171400-190176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:190171600-190172800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:190171600-190174000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:190171800-190172800	Weak transcription	HSMMtube	muscle
14	chr2:190171800-190173600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:190172200-190172400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:190172200-190173000	Enhancers	Small Intestine	intestine
17	chr2:190172200-190173200	Enhancers	Fetal Intestine Large	intestine
18	chr2:190172200-190174200	Enhancers	Fetal Intestine Small	intestine

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