Variant report

Variant	rs7666354
Chromosome Location	chr4:126318368-126318369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10212833	0.86[CHB][hapmap]
rs12643623	0.83[EUR][1000 genomes]
rs12650847	1.00[JPT][hapmap]
rs13435740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1396695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509284	1.00[MEX][hapmap]
rs1509285	0.82[CHB][hapmap]
rs17009497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17009524	0.82[CHB][hapmap];0.95[YRI][hapmap]
rs17009559	1.00[MEX][hapmap]
rs17009611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009615	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17009625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17009679	1.00[MEX][hapmap]
rs17009684	1.00[MEX][hapmap]
rs17009708	1.00[MEX][hapmap]
rs17009734	1.00[MEX][hapmap]
rs17009819	1.00[MEX][hapmap]
rs2016343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6816784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72675308	0.87[ASN][1000 genomes]
rs72675316	0.83[EUR][1000 genomes]
rs7688616	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9307562	1.00[MEX][hapmap]
rs974243	1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap]
rs992122	0.82[CHB][hapmap];0.96[YRI][hapmap]
rs9994504	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
2	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
4	chr4:126311800-126318400	Weak transcription	Fetal Lung	lung
5	chr4:126311800-126323000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
7	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
8	chr4:126312000-126319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:126312000-126354400	Weak transcription	HSMM	muscle
11	chr4:126312200-126342800	Weak transcription	NHLF	lung
12	chr4:126314400-126319400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:126315400-126318400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:126315400-126318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:126315400-126318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:126315600-126318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:126315600-126318400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:126315600-126318600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:126315600-126319800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:126316000-126318400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:126316000-126319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:126316000-126329200	Weak transcription	NHDF-Ad	bronchial
23	chr4:126316400-126319600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:126316400-126319800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:126316600-126318600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:126316600-126318600	Weak transcription	Osteobl	bone
27	chr4:126316600-126319600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:126317600-126318400	Enhancers	HUVEC	blood vessel
31	chr4:126317800-126318400	Weak transcription	Fetal Kidney	kidney
32	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
33	chr4:126318200-126318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:126318200-126320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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