Variant report

Variant	rs74130918
Chromosome Location	chr1:193082551-193082552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193082431..193083952-chr1:193102861..193105016,2	K562	blood:
2	chr1:193080550..193082803-chr1:193089159..193091685,3	MCF-7	breast:
3	chr1:193081847..193088145-chr1:193088466..193091962,12	MCF-7	breast:
4	chr1:193081962..193084481-chr1:193085010..193087899,2	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193077939..193080817-chr1:193081124..193083059,2	MCF-7	breast:
7	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34552619	0.85[AMR][1000 genomes]
rs34615282	0.85[AMR][1000 genomes]
rs55842934	0.85[AMR][1000 genomes]
rs56199152	0.85[AMR][1000 genomes]
rs58479385	0.85[AMR][1000 genomes]
rs6671794	0.85[AMR][1000 genomes]
rs6687899	0.85[AMR][1000 genomes]
rs74130911	0.85[AMR][1000 genomes]
rs74130912	0.85[AMR][1000 genomes]
rs74130913	0.85[AMR][1000 genomes]
rs74130914	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130916	0.85[AMR][1000 genomes]
rs74130917	0.85[AMR][1000 genomes]
rs7522932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553830	0.85[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr1:193075000-193082600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
3	chr1:193075200-193084800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:193075400-193084000	Weak transcription	HUVEC	blood vessel
5	chr1:193075600-193084600	Weak transcription	Fetal Heart	heart
6	chr1:193080600-193085400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:193080600-193085400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:193081000-193082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:193081000-193082800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:193081200-193083400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:193081200-193084800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:193081200-193090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:193081400-193082800	Enhancers	A549	lung
14	chr1:193081400-193083400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:193081400-193084600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:193081400-193084600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:193081400-193084600	Weak transcription	HSMM	muscle
20	chr1:193081400-193084600	Weak transcription	NHEK	skin
21	chr1:193081400-193085000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:193081400-193085200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:193081600-193082600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:193081600-193082800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:193081600-193082800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:193081600-193082800	Weak transcription	Liver	Liver
27	chr1:193081600-193083000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:193081600-193083000	Weak transcription	NHDF-Ad	bronchial
29	chr1:193081600-193084000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:193081600-193084600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:193081600-193084600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:193081600-193084600	Weak transcription	Hela-S3	cervix
33	chr1:193081600-193084600	Weak transcription	HMEC	breast
34	chr1:193081600-193084600	Weak transcription	HSMMtube	muscle
35	chr1:193081600-193084800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:193081600-193090600	Weak transcription	Lung	lung
37	chr1:193081800-193082800	Weak transcription	NHLF	lung
38	chr1:193081800-193084000	Weak transcription	Osteobl	bone
39	chr1:193081800-193084200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:193081800-193084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:193081800-193084600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:193082000-193082800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:193082000-193083400	Flanking Active TSS	K562	blood
44	chr1:193082000-193084800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:193082200-193082800	Enhancers	NH-A	brain
46	chr1:193082200-193083400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:193082200-193083600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:193082200-193084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:193082400-193082600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:193082400-193083000	Enhancers	H1 Cell Line	embryonic stem cell

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