Variant report

Variant	rs1216403
Chromosome Location	chr4:129526630-129526631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
2	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
3	chr4:129521214..129522736-chr4:129525502..129527805,2	K562	blood:
4	chr4:129522356..129525239-chr4:129525901..129529319,3	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000248802	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10020418	1.00[AMR][1000 genomes]
rs10025252	1.00[AMR][1000 genomes]
rs11098972	1.00[EUR][1000 genomes]
rs1216414	1.00[EUR][1000 genomes]
rs1216421	1.00[EUR][1000 genomes]
rs1216429	1.00[EUR][1000 genomes]
rs1216430	1.00[EUR][1000 genomes]
rs17013309	1.00[AMR][1000 genomes]
rs17013448	1.00[EUR][1000 genomes]
rs17013477	0.82[YRI][hapmap]
rs28422810	1.00[AMR][1000 genomes]
rs28612367	1.00[AMR][1000 genomes]
rs28670624	1.00[AMR][1000 genomes]
rs28689154	1.00[AMR][1000 genomes]
rs56317429	1.00[EUR][1000 genomes]
rs60266924	1.00[AMR][1000 genomes]
rs60416613	1.00[AMR][1000 genomes]
rs6835797	1.00[AMR][1000 genomes]
rs72932236	1.00[EUR][1000 genomes]
rs72932261	1.00[EUR][1000 genomes]
rs73850337	1.00[EUR][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	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

No data

Chromatin state (count:35 , 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	chr4:129522800-129527400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:129522800-129527600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:129522800-129536200	Weak transcription	Gastric	stomach
6	chr4:129523400-129527200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:129523600-129527200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:129523600-129527400	Weak transcription	Ovary	ovary
9	chr4:129523600-129527400	Weak transcription	Pancreas	Pancrea
10	chr4:129523600-129527400	Weak transcription	HSMM	muscle
11	chr4:129523600-129527600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129523600-129527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:129523800-129527000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:129523800-129527000	Weak transcription	Osteobl	bone
15	chr4:129523800-129528000	Enhancers	A549	lung
16	chr4:129524000-129527400	Weak transcription	NH-A	brain
17	chr4:129524000-129527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:129524000-129531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:129524400-129527200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:129524400-129527400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:129524400-129527400	Weak transcription	NHDF-Ad	bronchial
22	chr4:129524800-129527400	Weak transcription	NHLF	lung
23	chr4:129525000-129527800	Enhancers	NHEK	skin
24	chr4:129525000-129528000	Enhancers	Hela-S3	cervix
25	chr4:129525200-129528000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:129525400-129526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:129525400-129527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:129525400-129527400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:129525600-129528000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:129525800-129526800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:129526200-129528000	Enhancers	Fetal Heart	heart
32	chr4:129526400-129527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:129526400-129527400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:129526400-129527400	Weak transcription	HMEC	breast
35	chr4:129526400-129529000	Weak transcription	K562	blood

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