Variant report

Variant	rs73452618
Chromosome Location	chr7:137584006-137584007
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137340758..137342211-chr7:137583440..137584629,9	MCF-7	breast:
2	chr7:137290258..137291771-chr7:137583549..137584521,7	MCF-7	breast:
3	chr7:137340709..137341435-chr7:137583555..137584518,6	K562	blood:
4	chr7:137290583..137291474-chr7:137583144..137584537,5	K562	blood:
5	chr7:137310929..137311811-chr7:137583987..137584487,2	K562	blood:
6	chr7:137583612..137584186-chr7:137693303..137693962,2	MCF-7	breast:
7	chr7:134965954..134966830-chr7:137583533..137584081,2	K562	blood:
8	chr7:137501259..137502057-chr7:137583587..137584474,3	MCF-7	breast:
9	chr7:137570597..137573428-chr7:137582615..137585579,3	K562	blood:
10	chr3:156876358..156877967-chr7:137583930..137585430,2	MCF-7	breast:
11	chr7:137583170..137588345-chr7:137688405..137691754,4	K562	blood:
12	chr7:137580093..137581806-chr7:137582127..137584473,2	K562	blood:
13	chr7:137340756..137341673-chr7:137583558..137584733,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163660	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1364400	0.98[ASN][1000 genomes]
rs1364401	0.98[ASN][1000 genomes]
rs2352134	0.98[ASN][1000 genomes]
rs6467722	0.94[ASN][1000 genomes]
rs6963420	0.86[ASN][1000 genomes]
rs6969436	0.98[ASN][1000 genomes]
rs73450493	0.98[ASN][1000 genomes]
rs7800157	0.98[ASN][1000 genomes]
rs7807499	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137568000-137584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:137570400-137585800	Weak transcription	Hela-S3	cervix
4	chr7:137570600-137585400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:137571800-137588200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:137572000-137584400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:137572000-137585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:137572400-137584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:137575400-137591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:137578400-137584200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:137578400-137588200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:137579400-137588200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:137579800-137584400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:137580000-137584200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:137580000-137585000	Weak transcription	HMEC	breast
16	chr7:137580000-137588400	Weak transcription	Fetal Kidney	kidney
17	chr7:137580800-137584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:137581000-137584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:137581000-137588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:137581000-137589800	Weak transcription	Spleen	Spleen
21	chr7:137581200-137584400	Weak transcription	Esophagus	oesophagus
22	chr7:137581600-137584200	Weak transcription	Lung	lung
23	chr7:137581600-137584200	Weak transcription	Right Ventricle	heart
24	chr7:137581600-137584200	Weak transcription	NHEK	skin
25	chr7:137581600-137584800	Weak transcription	Ovary	ovary
26	chr7:137582000-137584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:137582800-137584200	Strong transcription	A549	lung
28	chr7:137582800-137584400	Enhancers	Fetal Heart	heart
29	chr7:137583000-137584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:137583200-137584800	Enhancers	Primary B cells from cord blood	blood
31	chr7:137583400-137584400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:137583400-137584400	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr7:137583400-137584600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:137583400-137584600	Enhancers	Brain Anterior Caudate	brain
35	chr7:137583400-137584600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:137583400-137584600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:137583400-137584600	Enhancers	Dnd41	blood
38	chr7:137583400-137584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:137583400-137585000	Genic enhancers	Brain Hippocampus Middle	brain
40	chr7:137583800-137584200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:137583800-137584200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:137583800-137584200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:137583800-137584200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:137583800-137584200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
45	chr7:137583800-137584200	Enhancers	Fetal Brain Male	brain
46	chr7:137583800-137584200	ZNF genes & repeats	Pancreas	Pancrea
47	chr7:137583800-137584200	Genic enhancers	Right Atrium	heart
48	chr7:137583800-137584200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr7:137583800-137584200	Genic enhancers	HepG2	liver
50	chr7:137583800-137584400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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