Variant report

Variant	rs73472001
Chromosome Location	chr7:129598894-129598895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129464687..129467079-chr7:129598257..129600358,2	MCF-7	breast:
2	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:
3	chr7:129598314..129600626-chr7:129608223..129610366,4	MCF-7	breast:
4	chr7:129504521..129507078-chr7:129598689..129601588,2	K562	blood:
5	chr7:129468198..129471142-chr7:129597545..129600356,2	MCF-7	breast:
6	chr7:129589671..129594526-chr7:129595391..129600667,11	K562	blood:
7	chr7:129597879..129600626-chr7:129664586..129667317,2	K562	blood:
8	chr7:129597539..129599977-chr7:129629318..129630845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201109	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57085267	1.00[AMR][1000 genomes]
rs57351931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57534840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58432106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs6960765	1.00[AMR][1000 genomes]
rs73469778	1.00[AMR][1000 genomes]
rs73469787	1.00[AMR][1000 genomes]
rs73469788	1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AMR][1000 genomes]
rs73471913	1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471986	1.00[AMR][1000 genomes]
rs73471988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808364	1.00[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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129597600-129601200	Enhancers	Placenta	Placenta
4	chr7:129597800-129599600	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:129597800-129600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:129597800-129600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:129597800-129600200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:129598000-129599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:129598000-129599200	Enhancers	Esophagus	oesophagus
10	chr7:129598000-129599200	Enhancers	Left Ventricle	heart
11	chr7:129598000-129599400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:129598000-129599600	Enhancers	Fetal Muscle Leg	muscle
13	chr7:129598000-129599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:129598000-129599800	Enhancers	Stomach Mucosa	stomach
15	chr7:129598000-129600000	Enhancers	Fetal Intestine Small	intestine
16	chr7:129598000-129600000	Enhancers	HMEC	breast
17	chr7:129598000-129600000	Enhancers	HUVEC	blood vessel
18	chr7:129598000-129600200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:129598000-129600200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:129598000-129600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:129598200-129599000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:129598200-129599000	Enhancers	Right Ventricle	heart
23	chr7:129598200-129599200	Flanking Active TSS	NHEK	skin
24	chr7:129598200-129599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:129598200-129599400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:129598200-129599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:129598200-129599600	Enhancers	Fetal Heart	heart
28	chr7:129598200-129599600	Enhancers	Fetal Intestine Large	intestine
29	chr7:129598200-129599600	Enhancers	Pancreas	Pancrea
30	chr7:129598200-129599600	Enhancers	Psoas Muscle	Psoas
31	chr7:129598200-129599600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:129598200-129599600	Flanking Active TSS	Hela-S3	cervix
33	chr7:129598200-129599600	Enhancers	NH-A	brain
34	chr7:129598200-129599800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:129598200-129599800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:129598200-129599800	Enhancers	HSMM	muscle
37	chr7:129598400-129599000	Flanking Active TSS	K562	blood
38	chr7:129598400-129599200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr7:129598400-129599200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:129598400-129599200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:129598400-129599200	Enhancers	NHLF	lung
42	chr7:129598400-129599400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:129598400-129599400	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:129598400-129599600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:129598400-129599600	Flanking Active TSS	HepG2	liver
46	chr7:129598400-129599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:129598400-129599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:129598400-129599800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:129598400-129599800	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:129598400-129599800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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