Variant report

Variant	rs1002372
Chromosome Location	chr7:80517164-80517165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80516681..80519287-chr7:80546646..80549730,4	MCF-7	breast:
2	chr7:80488073..80490301-chr7:80516481..80518081,2	MCF-7	breast:
3	chr7:80516470..80518143-chr7:80520013..80522013,2	K562	blood:
4	chr7:80516099..80517943-chr7:80525390..80527028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10487874	0.84[ASN][1000 genomes]
rs10487876	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10954381	0.82[ASN][1000 genomes]
rs10954383	0.84[ASN][1000 genomes]
rs11764824	0.81[ASN][1000 genomes]
rs11974289	0.84[ASN][1000 genomes]
rs11977933	0.92[YRI][hapmap]
rs11979208	0.90[ASN][1000 genomes]
rs11979430	0.82[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs11981013	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs12666127	0.86[ASN][1000 genomes]
rs12669508	0.82[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs17154550	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17154553	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs17154557	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs17154561	0.84[ASN][1000 genomes]
rs17154573	0.88[ASN][1000 genomes]
rs17154583	0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2189959	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs55724406	0.82[ASN][1000 genomes]
rs56659993	0.83[ASN][1000 genomes]
rs57535735	0.85[ASN][1000 genomes]
rs58614985	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60153175	0.82[ASN][1000 genomes]
rs60888856	0.85[ASN][1000 genomes]
rs60939301	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61233293	0.84[ASN][1000 genomes]
rs61692570	0.88[ASN][1000 genomes]
rs6965398	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs73374822	0.84[ASN][1000 genomes]
rs73374826	0.82[ASN][1000 genomes]
rs73374831	0.84[ASN][1000 genomes]
rs73374856	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73374870	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs767732	0.88[ASN][1000 genomes]
rs7779029	0.82[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7779641	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7781373	0.82[ASN][1000 genomes]
rs7784762	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7785194	0.82[ASN][1000 genomes]
rs7793465	0.82[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7795137	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7801763	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7801881	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9641942	0.90[JPT][hapmap]

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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
2	chr7:80500200-80526200	Weak transcription	Psoas Muscle	Psoas
3	chr7:80500200-80534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:80506600-80524200	Weak transcription	Fetal Brain Male	brain
5	chr7:80506800-80520400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:80509600-80520000	Weak transcription	Fetal Lung	lung
7	chr7:80510000-80526000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:80510000-80526000	Weak transcription	Right Ventricle	heart
9	chr7:80510200-80517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:80510200-80517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:80510200-80517400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:80512800-80520200	Weak transcription	Adipose Nuclei	Adipose
13	chr7:80512800-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:80513200-80520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:80513200-80520200	Weak transcription	Fetal Kidney	kidney
16	chr7:80513400-80520200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:80513400-80533400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:80513800-80530200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:80514200-80519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:80514200-80519800	Weak transcription	HSMMtube	muscle
21	chr7:80514200-80519800	Weak transcription	NHDF-Ad	bronchial
22	chr7:80514400-80519200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:80514400-80519800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:80514600-80520000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:80514600-80529800	Weak transcription	Hela-S3	cervix
26	chr7:80514800-80529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:80515000-80517400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:80515000-80519600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:80515000-80520200	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:80515000-80520400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:80515000-80525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
33	chr7:80515200-80518400	Strong transcription	HSMM	muscle
34	chr7:80515200-80519800	Weak transcription	Small Intestine	intestine
35	chr7:80515400-80519600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:80515400-80519800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:80515400-80520000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:80515400-80520000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:80515400-80520200	Weak transcription	NHEK	skin
40	chr7:80515400-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:80515600-80519400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:80515600-80519800	Weak transcription	NHLF	lung
43	chr7:80515600-80520000	Weak transcription	Osteobl	bone
44	chr7:80516200-80517600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:80516200-80518600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:80516200-80519200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:80516400-80518400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:80516600-80517800	Strong transcription	NH-A	brain
49	chr7:80516800-80517200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:80516800-80517200	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links