Variant report

Variant	rs186162709
Chromosome Location	chr4:129527835-129527836
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	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
2	chr4:129522356..129525239-chr4:129525901..129529319,3	K562	blood:

Variant related genes	Relation type
ENSG00000248802	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv519852	chr4:129527656-129574927	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129522200-129529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:129522600-129537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129522800-129536200	Weak transcription	Gastric	stomach
4	chr4:129523800-129528000	Enhancers	A549	lung
5	chr4:129524000-129531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:129525000-129528000	Enhancers	Hela-S3	cervix
7	chr4:129525200-129528000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:129525600-129528000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:129526200-129528000	Enhancers	Fetal Heart	heart
10	chr4:129526400-129529000	Weak transcription	K562	blood
11	chr4:129527000-129528000	Enhancers	Osteobl	bone
12	chr4:129527200-129528000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:129527200-129528000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:129527200-129528000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:129527200-129528000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:129527400-129528000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:129527400-129528000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:129527400-129528000	Enhancers	HMEC	breast
19	chr4:129527400-129528000	Enhancers	HSMM	muscle
20	chr4:129527400-129528000	Enhancers	NH-A	brain
21	chr4:129527400-129528000	Enhancers	NHDF-Ad	bronchial
22	chr4:129527400-129528000	Enhancers	NHLF	lung
23	chr4:129527600-129528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:129527600-129528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:129527600-129531800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:129527800-129529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:129527800-129550400	Weak transcription	Pancreas	Pancrea

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