Variant report

Variant	rs11972642
Chromosome Location	chr7:80439190-80439191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80437828..80439933-chr7:80547616..80551116,3	MCF-7	breast:
2	chr7:80437331..80439596-chr7:80443957..80445527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3211893	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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80410400-80462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:80413600-80440800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:80417600-80456600	Weak transcription	Fetal Brain Female	brain
4	chr7:80425200-80460000	Weak transcription	Psoas Muscle	Psoas
5	chr7:80425400-80439600	Weak transcription	Fetal Stomach	stomach
6	chr7:80425400-80480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:80427400-80451400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80427400-80483800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:80427600-80439200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:80431000-80459800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:80434400-80446200	Weak transcription	Fetal Intestine Large	intestine
12	chr7:80434400-80451400	Weak transcription	HSMMtube	muscle
13	chr7:80434800-80443800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:80434800-80445200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:80435000-80445000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:80436400-80459000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:80436800-80442000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:80436800-80456200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:80437000-80440000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:80437000-80440200	Weak transcription	NHLF	lung
21	chr7:80437000-80445800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:80437000-80453400	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:80437000-80453600	Weak transcription	NH-A	brain
24	chr7:80437200-80453600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:80438000-80439400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr7:80438000-80446600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:80438200-80439400	Strong transcription	HSMM	muscle
28	chr7:80438200-80445000	Weak transcription	Hela-S3	cervix
29	chr7:80438200-80446400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:80438200-80451800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:80438200-80453800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:80438600-80439200	ZNF genes & repeats	A549	lung
33	chr7:80438600-80439400	Strong transcription	Adipose Nuclei	Adipose
34	chr7:80438600-80444400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:80438800-80439200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:80438800-80439200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:80438800-80439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:80438800-80439200	ZNF genes & repeats	Fetal Lung	lung
39	chr7:80438800-80439200	ZNF genes & repeats	HMEC	breast
40	chr7:80438800-80439400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:80438800-80439400	ZNF genes & repeats	Osteobl	bone
42	chr7:80438800-80442200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:80438800-80445000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:80439000-80439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:80439000-80439200	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr7:80439000-80439400	ZNF genes & repeats	NHEK	skin
47	chr7:80439000-80440000	Strong transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links