Variant report

Variant	rs6979616
Chromosome Location	chr7:129598082-129598083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129515155..129517525-chr7:129596999..129598887,2	K562	blood:
2	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:
3	chr7:129468198..129471142-chr7:129597545..129600356,2	MCF-7	breast:
4	chr7:129589671..129594526-chr7:129595391..129600667,11	K562	blood:
5	chr7:129597879..129600626-chr7:129664586..129667317,2	K562	blood:
6	chr7:129597539..129599977-chr7:129629318..129630845,2	MCF-7	breast:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1045896	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2464893	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62489385	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964187	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980213	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7790667	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
2	chr7:129592800-129598400	Weak transcription	NHLF	lung
3	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129593000-129598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:129593200-129598200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:129593200-129598200	Weak transcription	Fetal Heart	heart
7	chr7:129593200-129598200	Weak transcription	Fetal Intestine Large	intestine
8	chr7:129593200-129598200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:129593200-129598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:129593200-129598200	Weak transcription	HSMM	muscle
11	chr7:129593200-129598400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:129593200-129598400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:129593200-129598400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:129593400-129598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:129593400-129598200	Weak transcription	Psoas Muscle	Psoas
16	chr7:129593400-129598400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:129593400-129598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:129594200-129598400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:129594200-129598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:129595800-129598200	Weak transcription	Right Ventricle	heart
22	chr7:129595800-129598400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:129595800-129598400	Weak transcription	HSMMtube	muscle
24	chr7:129596000-129598200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:129596000-129598200	Weak transcription	NH-A	brain
26	chr7:129596000-129598200	Weak transcription	Osteobl	bone
27	chr7:129596000-129598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:129596000-129598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:129596000-129598400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:129596000-129598400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:129596200-129598200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:129597600-129598200	Enhancers	Hela-S3	cervix
33	chr7:129597600-129601200	Enhancers	Placenta	Placenta
34	chr7:129597800-129598200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:129597800-129598400	Enhancers	K562	blood
36	chr7:129597800-129599600	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:129597800-129600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:129597800-129600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:129597800-129600200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:129598000-129598200	Enhancers	NHEK	skin
41	chr7:129598000-129598400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:129598000-129598400	Enhancers	HepG2	liver
43	chr7:129598000-129598600	Enhancers	A549	lung
44	chr7:129598000-129599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:129598000-129599200	Enhancers	Esophagus	oesophagus
46	chr7:129598000-129599200	Enhancers	Left Ventricle	heart
47	chr7:129598000-129599400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr7:129598000-129599600	Enhancers	Fetal Muscle Leg	muscle
49	chr7:129598000-129599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:129598000-129599800	Enhancers	Stomach Mucosa	stomach

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