Variant report

Variant	rs10020418
Chromosome Location	chr4:129449474-129449475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129448154..129450647-chr4:129731031..129733967,2	K562	blood:
2	chr4:129440926..129442580-chr4:129447681..129449595,2	MCF-7	breast:
3	chr4:129447748..129450564-chr4:129466111..129468767,2	K562	blood:
4	chr4:129444037..129452105-chr4:129473073..129478954,15	MCF-7	breast:
5	chr4:129305678..129308286-chr4:129449274..129450923,2	MCF-7	breast:
6	chr4:129447257..129450571-chr4:129455586..129458659,3	MCF-7	breast:
7	chr4:129387442..129390283-chr4:129446907..129450145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10025252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216403	1.00[AMR][1000 genomes]
rs17013309	1.00[AMR][1000 genomes]
rs28422810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60266924	1.00[AMR][1000 genomes]
rs60416613	1.00[AMR][1000 genomes]
rs6835797	0.82[AFR][1000 genomes];1.00[AMR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129439200-129450000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:129440200-129450000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:129440400-129450000	Weak transcription	Fetal Stomach	stomach
4	chr4:129441000-129450000	Weak transcription	Ovary	ovary
5	chr4:129441200-129450000	Weak transcription	Psoas Muscle	Psoas
6	chr4:129443400-129450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:129443600-129450200	Weak transcription	Lung	lung
8	chr4:129444800-129450000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:129444800-129451000	Enhancers	HSMM	muscle
10	chr4:129444800-129451000	Enhancers	Osteobl	bone
11	chr4:129445000-129451000	Enhancers	NHDF-Ad	bronchial
12	chr4:129445200-129451000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:129445800-129449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:129446200-129450000	Weak transcription	Aorta	Aorta
15	chr4:129446200-129450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:129446200-129450400	Weak transcription	Gastric	stomach
17	chr4:129446800-129450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:129446800-129450000	Weak transcription	Right Atrium	heart
19	chr4:129447000-129449800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:129447000-129449800	Weak transcription	Placenta	Placenta
21	chr4:129447400-129449600	Weak transcription	Hela-S3	cervix
22	chr4:129447400-129450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:129447400-129450800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:129447400-129450800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:129447400-129451000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:129447600-129449600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:129447800-129449600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:129447800-129449600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:129447800-129449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:129447800-129450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:129448000-129456400	Weak transcription	Stomach Mucosa	stomach
32	chr4:129448200-129449600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:129448400-129451000	Enhancers	HSMMtube	muscle
34	chr4:129448600-129451000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:129448600-129451000	Enhancers	Fetal Heart	heart
36	chr4:129448600-129451000	Enhancers	NH-A	brain
37	chr4:129448800-129451000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:129449000-129450200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:129449000-129450800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:129449000-129451000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:129449000-129451000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:129449000-129451000	Enhancers	NHLF	lung
43	chr4:129449200-129450800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:129449200-129451000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:129449200-129451000	Flanking Active TSS	A549	lung
46	chr4:129449200-129451000	Enhancers	HUVEC	blood vessel
47	chr4:129449400-129449600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:129449400-129449600	Enhancers	Fetal Lung	lung
49	chr4:129449400-129450000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:129449400-129450200	Enhancers	Sigmoid Colon	Sigmoid Colon

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