Variant report

Variant	rs4975182
Chromosome Location	chr4:129256830-129256831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129256793..129258893-chr4:129267585..129270098,3	K562	blood:
2	chr4:129256184..129258474-chr4:129259600..129261479,2	K562	blood:
3	chr4:129254656..129257520-chr4:129731722..129734006,2	K562	blood:
4	chr4:129256264..129258474-chr4:129259561..129261479,2	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12512538	1.00[AFR][1000 genomes]
rs12645655	1.00[CHB][hapmap]
rs17337491	1.00[CHB][hapmap]
rs6534679	1.00[CHB][hapmap]

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
2	chr4:129231800-129261000	Weak transcription	Adipose Nuclei	Adipose
3	chr4:129244800-129259200	Weak transcription	Stomach Mucosa	stomach
4	chr4:129245000-129259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:129245200-129259200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:129245200-129259200	Weak transcription	A549	lung
7	chr4:129245600-129260000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:129245600-129263400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:129249600-129259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:129251400-129279600	Weak transcription	Primary T cells from cord blood	blood
11	chr4:129254000-129259000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:129254000-129259000	Weak transcription	Osteobl	bone
13	chr4:129254000-129259200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:129254000-129259200	Weak transcription	HSMMtube	muscle
15	chr4:129254000-129259200	Weak transcription	NH-A	brain
16	chr4:129255000-129259000	Weak transcription	HSMM	muscle
17	chr4:129255200-129258800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:129255400-129260000	Weak transcription	Psoas Muscle	Psoas
19	chr4:129255400-129264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:129256800-129259200	Weak transcription	K562	blood

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