Variant report

Variant	rs4667268
Chromosome Location	chr2:190029306-190029307
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	chr2:190016341..190018052-chr2:190028651..190030939,2	MCF-7	breast:
2	chr2:190027832..190030639-chr2:190032693..190035632,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10165127	0.92[EUR][1000 genomes]
rs10165257	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10165260	0.81[JPT][hapmap]
rs1016622	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10166385	0.92[ASN][1000 genomes]
rs10167242	0.83[ASN][1000 genomes]
rs10172607	0.94[ASN][1000 genomes]
rs10173224	0.92[ASN][1000 genomes]
rs10184895	0.94[ASN][1000 genomes]
rs10755002	0.90[ASN][1000 genomes]
rs10931401	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931403	0.90[ASN][1000 genomes]
rs10931405	0.88[ASN][1000 genomes]
rs10931411	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901914	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105389	0.85[AFR][1000 genomes]
rs12474942	0.96[ASN][1000 genomes]
rs12618316	0.95[EUR][1000 genomes]
rs12621657	0.87[ASN][1000 genomes]
rs12999125	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13005714	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13005834	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13006065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13013089	0.95[EUR][1000 genomes]
rs13015183	0.89[ASN][1000 genomes]
rs13020999	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13024858	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13028226	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13030984	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13408928	0.92[ASN][1000 genomes]
rs13411992	0.92[ASN][1000 genomes]
rs13413518	0.92[ASN][1000 genomes]
rs1356161	0.92[ASN][1000 genomes]
rs1356166	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1399991	0.84[AFR][1000 genomes]
rs1464135	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1474000	0.87[ASN][1000 genomes]
rs1515864	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1515866	0.90[ASN][1000 genomes]
rs1515869	0.92[EUR][1000 genomes]
rs1533618	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546617	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1913892	0.92[ASN][1000 genomes]
rs1949327	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1973666	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1983318	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2138373	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2351631	0.90[ASN][1000 genomes]
rs2351632	0.93[ASN][1000 genomes]
rs2351633	0.89[ASN][1000 genomes]
rs2351635	0.88[ASN][1000 genomes]
rs36019389	0.94[EUR][1000 genomes]
rs4128538	0.85[JPT][hapmap]
rs4417749	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4667263	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4667266	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4667270	0.92[ASN][1000 genomes]
rs4667271	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667275	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182417	0.86[EUR][1000 genomes]
rs6434322	0.85[JPT][hapmap]
rs6434324	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6434325	0.92[EUR][1000 genomes]
rs6434334	0.87[ASN][1000 genomes]
rs6434337	0.86[ASN][1000 genomes]
rs6704568	0.88[ASN][1000 genomes]
rs6728877	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6732534	0.91[ASN][1000 genomes]
rs6737071	0.82[AFR][1000 genomes]
rs6741804	0.92[EUR][1000 genomes]
rs6749559	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6752781	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6761868	0.88[ASN][1000 genomes]
rs7560973	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7574281	0.85[ASN][1000 genomes]
rs7592439	0.81[JPT][hapmap]
rs7593860	0.92[EUR][1000 genomes]
rs7599222	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7603704	0.87[ASN][1000 genomes]
rs7606337	0.92[EUR][1000 genomes]
rs9288163	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs939158	0.88[ASN][1000 genomes]
rs939160	0.90[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
rs4667268	AC013439.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190018800-190029600	Weak transcription	Ovary	ovary
2	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:190026600-190029600	Enhancers	HSMMtube	muscle
5	chr2:190026600-190030200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190026600-190032000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:190026800-190029800	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:190026800-190030800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:190027000-190029400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:190027200-190030800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:190027600-190029800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:190027600-190032000	Enhancers	Fetal Lung	lung
13	chr2:190027800-190029400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:190027800-190031400	Enhancers	NH-A	brain
15	chr2:190028000-190029400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190028000-190029600	Enhancers	Fetal Heart	heart
17	chr2:190028000-190030800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:190028000-190032800	Enhancers	NHLF	lung
19	chr2:190028200-190030000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:190028200-190030400	Enhancers	Hela-S3	cervix
21	chr2:190028200-190030600	Enhancers	Adipose Nuclei	Adipose
22	chr2:190028400-190029400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:190028400-190029400	Enhancers	Fetal Kidney	kidney
24	chr2:190028400-190029600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:190028400-190030000	Enhancers	HUVEC	blood vessel
26	chr2:190028400-190030600	Enhancers	Fetal Stomach	stomach
27	chr2:190028400-190033800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:190028600-190030800	Enhancers	NHDF-Ad	bronchial
29	chr2:190028800-190029600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:190028800-190029800	Enhancers	HMEC	breast
31	chr2:190028800-190030000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:190028800-190030000	Enhancers	HSMM	muscle
33	chr2:190028800-190030200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:190028800-190030200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:190028800-190034200	Enhancers	Liver	Liver
36	chr2:190029000-190029600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:190029000-190029600	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:190029000-190029600	Weak transcription	Psoas Muscle	Psoas
39	chr2:190029000-190029600	Enhancers	Osteobl	bone
40	chr2:190029000-190030200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:190029000-190030600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:190029000-190030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:190029000-190030800	Weak transcription	Aorta	Aorta
44	chr2:190029000-190031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:190029000-190031400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:190029000-190033600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:190029000-190037200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:190029200-190029400	Enhancers	A549	lung
49	chr2:190029200-190029600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:190029200-190029600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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