Variant report

Variant	rs6850541
Chromosome Location	chr4:129373016-129373017
allele	A/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	JUND	chr4:129372734-129373016	HepG2	liver:	n/a	chr4:129372864-129372873 chr4:129372863-129372872 chr4:129372862-129372873 chr4:129372865-129372876
2	FOS	chr4:129372779-129373040	MCF10A-Er-Src	breast:	n/a	chr4:129372864-129372873 chr4:129372863-129372872 chr4:129372865-129372876

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129372062..129374901-chr4:129473797..129476427,2	MCF-7	breast:
2	chr4:129242750..129245400-chr4:129372487..129374943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251432	TF binding region
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518532	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs17013164	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17013357	1.00[CEU][hapmap]
rs34613566	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59150919	0.82[EUR][1000 genomes]
rs60668559	0.82[EUR][1000 genomes]
rs6842109	0.80[YRI][hapmap]
rs72928249	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928256	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655151	1.00[CEU][hapmap]
rs7655383	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694151	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs7694390	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7698342	1.00[EUR][1000 genomes];1.00[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129367200-129375400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:129367200-129376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:129368800-129376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:129370000-129378800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:129370400-129375600	Enhancers	NHDF-Ad	bronchial
6	chr4:129370800-129375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:129371200-129373600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:129371200-129374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:129371400-129375400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:129372000-129373600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:129372000-129375000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:129372200-129373400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:129372200-129373400	Weak transcription	Osteobl	bone
14	chr4:129372200-129375400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:129372400-129373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:129372600-129373600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:129372600-129374000	Enhancers	HMEC	breast
18	chr4:129372600-129375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:129372800-129373600	Weak transcription	Psoas Muscle	Psoas
20	chr4:129372800-129373600	Weak transcription	A549	lung
21	chr4:129372800-129375000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:129372800-129375200	Weak transcription	NHEK	skin
23	chr4:129372800-129375600	Weak transcription	Left Ventricle	heart
24	chr4:129372800-129376200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:129373000-129373400	Weak transcription	Fetal Heart	heart
26	chr4:129373000-129373400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:129373000-129375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:129373000-129375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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