Variant report

Variant	rs17013197
Chromosome Location	chr4:129301553-129301554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129243843..129245732-chr4:129300770..129303372,2	MCF-7	breast:
2	chr4:129300760..129301714-chr4:129348936..129349682,5	MCF-7	breast:
3	chr4:129280207..129282778-chr4:129300423..129303130,2	MCF-7	breast:
4	chr4:129299568..129302114-chr4:129305690..129309933,3	MCF-7	breast:
5	chr4:129209158..129211920-chr4:129301214..129303084,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction
ENSG00000251432	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17013158	0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013169	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58251203	1.00[EUR][1000 genomes]
rs58882042	1.00[EUR][1000 genomes]
rs59198218	1.00[EUR][1000 genomes]
rs60082278	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846936	1.00[EUR][1000 genomes]
rs73848751	1.00[EUR][1000 genomes]
rs73848781	1.00[EUR][1000 genomes]
rs73848783	1.00[EUR][1000 genomes]
rs7655151	1.00[MEX][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129292800-129306600	Weak transcription	Psoas Muscle	Psoas
2	chr4:129298600-129303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129298600-129304600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:129298600-129305200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:129298600-129305800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:129298600-129307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:129298800-129305000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:129298800-129307400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:129299000-129307400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:129299800-129301800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:129299800-129301800	Enhancers	Adipose Nuclei	Adipose
12	chr4:129299800-129302000	Enhancers	Stomach Mucosa	stomach
13	chr4:129299800-129305000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:129300000-129306400	Weak transcription	Aorta	Aorta
15	chr4:129300600-129302000	Enhancers	Placenta	Placenta
16	chr4:129300800-129301600	Enhancers	Hela-S3	cervix
17	chr4:129300800-129301800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:129300800-129302000	Enhancers	Fetal Heart	heart
19	chr4:129300800-129302200	Enhancers	HSMMtube	muscle
20	chr4:129301000-129301600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:129301000-129301600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:129301000-129301800	Enhancers	Gastric	stomach
23	chr4:129301000-129301800	Enhancers	Right Atrium	heart
24	chr4:129301000-129302000	Enhancers	Esophagus	oesophagus
25	chr4:129301000-129302000	Enhancers	Lung	lung
26	chr4:129301000-129302000	Enhancers	A549	lung
27	chr4:129301000-129302000	Enhancers	HMEC	breast
28	chr4:129301000-129302000	Enhancers	HSMM	muscle
29	chr4:129301000-129302200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:129301000-129302200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:129301000-129305200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:129301200-129301800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:129301200-129302000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:129301200-129302000	Enhancers	NHEK	skin
35	chr4:129301200-129302400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:129301200-129304000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:129301400-129301800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:129301400-129305200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:129301400-129305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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