Variant report

Variant	rs4667271
Chromosome Location	chr2:190079848-190079849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190076426..190078062-chr2:190079096..190081781,2	K562	blood:
2	chr2:190076562..190079002-chr2:190079096..190081087,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10165127	0.85[EUR][1000 genomes]
rs10165257	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1016622	0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs10166385	0.95[ASN][1000 genomes]
rs10167242	0.89[ASN][1000 genomes]
rs10172607	1.00[ASN][1000 genomes]
rs10173224	0.98[ASN][1000 genomes]
rs10184895	1.00[ASN][1000 genomes]
rs10755002	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10931401	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931403	0.95[ASN][1000 genomes]
rs10931405	0.93[ASN][1000 genomes]
rs10931411	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901914	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105389	0.84[YRI][hapmap]
rs12474942	0.98[ASN][1000 genomes]
rs12618316	0.88[EUR][1000 genomes]
rs12621657	0.89[ASN][1000 genomes]
rs12999122	0.80[AFR][1000 genomes]
rs12999125	0.96[ASN][1000 genomes]
rs13005714	0.88[EUR][1000 genomes]
rs13005834	0.88[EUR][1000 genomes]
rs13006065	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012327	0.80[AFR][1000 genomes]
rs13013089	0.88[EUR][1000 genomes]
rs13015183	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13018252	0.94[JPT][hapmap]
rs13020999	0.88[EUR][1000 genomes]
rs13024858	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs13028226	0.94[ASN][1000 genomes]
rs13030984	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs13031211	0.80[JPT][hapmap]
rs13031609	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13035381	0.81[EUR][1000 genomes]
rs13408928	0.96[ASN][1000 genomes]
rs13411992	0.97[ASN][1000 genomes]
rs13413518	0.96[ASN][1000 genomes]
rs1356161	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1356166	0.95[ASN][1000 genomes]
rs1399991	0.81[YRI][hapmap]
rs1399992	0.82[AFR][1000 genomes]
rs1464135	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1474000	0.91[ASN][1000 genomes]
rs1515864	0.85[EUR][1000 genomes]
rs1515866	0.93[ASN][1000 genomes]
rs1515869	0.85[EUR][1000 genomes]
rs1515874	0.81[AFR][1000 genomes]
rs1520858	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs1533618	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546617	0.95[ASN][1000 genomes]
rs1913892	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1949327	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1973666	0.86[ASN][1000 genomes]
rs1983318	0.95[ASN][1000 genomes]
rs2138373	0.82[EUR][1000 genomes]
rs2351631	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2351632	0.99[ASN][1000 genomes]
rs2351633	0.94[ASN][1000 genomes]
rs2351635	0.90[ASN][1000 genomes]
rs35772309	0.89[AFR][1000 genomes]
rs36019389	0.86[EUR][1000 genomes]
rs4417749	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4667263	0.85[EUR][1000 genomes]
rs4667266	0.88[CEU][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs4667268	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667270	0.96[ASN][1000 genomes]
rs4667275	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434324	0.82[EUR][1000 genomes]
rs6434325	0.85[EUR][1000 genomes]
rs6434334	0.93[ASN][1000 genomes]
rs6434337	0.88[ASN][1000 genomes]
rs6704568	0.92[ASN][1000 genomes]
rs6728877	0.94[ASN][1000 genomes]
rs6732534	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6741804	0.85[EUR][1000 genomes]
rs6752781	0.82[CEU][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs6761868	0.92[ASN][1000 genomes]
rs7419888	0.81[YRI][hapmap]
rs7556928	0.81[EUR][1000 genomes]
rs7560973	0.82[EUR][1000 genomes]
rs7574281	0.87[ASN][1000 genomes]
rs7587147	0.82[AFR][1000 genomes]
rs7587956	0.80[AFR][1000 genomes]
rs7593860	0.85[EUR][1000 genomes]
rs7599222	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7603704	0.93[ASN][1000 genomes]
rs7606337	0.85[EUR][1000 genomes]
rs9288163	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs939158	0.90[ASN][1000 genomes]
rs939160	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4667271	AC013439.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190076000-190087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
3	chr2:190076800-190081600	Weak transcription	NH-A	brain
4	chr2:190076800-190081800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:190076800-190082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:190076800-190082200	Weak transcription	HUVEC	blood vessel
7	chr2:190077000-190081000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:190077000-190081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:190077000-190081600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:190077000-190082000	Weak transcription	HSMM	muscle
11	chr2:190077000-190082200	Weak transcription	HSMMtube	muscle
12	chr2:190077000-190082400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:190077000-190082600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:190077000-190086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:190077000-190086400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:190077000-190086600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:190077000-190086600	Weak transcription	Fetal Stomach	stomach
18	chr2:190077800-190082200	Weak transcription	K562	blood
19	chr2:190078000-190080200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:190078000-190083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:190078000-190084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:190078200-190082200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:190078400-190082200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:190078400-190087800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:190078600-190081400	Enhancers	A549	lung
26	chr2:190078600-190081800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:190078600-190081800	Weak transcription	Fetal Lung	lung
28	chr2:190078600-190082200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:190078600-190082200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:190078600-190086000	Weak transcription	NHDF-Ad	bronchial
31	chr2:190078600-190086800	Weak transcription	NHLF	lung
32	chr2:190079400-190080000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:190079400-190080000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:190079400-190080200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:190079400-190082000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:190079800-190080200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:190079800-190083600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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