Variant report

Variant	rs4142283
Chromosome Location	chr7:107939739-107939740
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107938518..107941105-chr7:107997657..107999533,3	MCF-7	breast:
2	chr7:107937637..107939802-chr7:108095518..108098035,3	MCF-7	breast:
3	chr7:107885444..107889446-chr7:107936320..107941216,4	MCF-7	breast:
4	chr7:107938640..107940703-chr7:107991452..107994655,4	MCF-7	breast:
5	chr7:107937668..107941473-chr7:107996254..108000894,5	MCF-7	breast:
6	chr7:107938795..107940686-chr7:107979875..107982816,2	MCF-7	breast:
7	chr7:107840154..107842979-chr7:107937702..107939902,2	MCF-7	breast:
8	chr7:107840057..107842255-chr7:107937956..107941774,3	MCF-7	breast:
9	chr7:107938387..107941926-chr7:108096111..108098470,4	MCF-7	breast:
10	chr7:107936793..107941797-chr7:107984945..107993863,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction
ENSG00000266112	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1016148	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10487850	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953563	0.94[CEU][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11763042	0.88[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11769966	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12538050	0.93[CEU][hapmap];0.87[AMR][1000 genomes]
rs12673676	0.82[CEU][hapmap]
rs12705448	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221333	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13242951	0.88[CEU][hapmap];0.83[JPT][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13243381	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16872495	0.94[CEU][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17155485	0.94[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17155518	0.94[CEU][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17155522	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2098419	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2190405	0.82[CEU][hapmap]
rs2300012	0.89[CEU][hapmap]
rs2300024	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2300030	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34025892	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727703	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956163	0.94[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7778203	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs969708	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017288	chr7:107939739-108000837	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:107931000-107947400	Weak transcription	Fetal Brain Female	brain
3	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:107932200-107939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:107933400-107942800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:107933600-107947400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:107935200-107947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:107935400-107950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:107935800-107939800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:107936600-107946800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:107938000-107939800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:107938000-107939800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:107938000-107942600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:107938200-107941600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:107938400-107940000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:107938400-107940400	Enhancers	Placenta	Placenta
17	chr7:107938400-107941000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:107939200-107940400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:107939200-107940600	Enhancers	HMEC	breast
20	chr7:107939200-107940600	Enhancers	NH-A	brain
21	chr7:107939600-107939800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:107939600-107939800	Enhancers	Pancreas	Pancrea
23	chr7:107939600-107939800	Flanking Active TSS	HUVEC	blood vessel
24	chr7:107939600-107940000	Flanking Active TSS	Hela-S3	cervix
25	chr7:107939600-107940400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:107939600-107940400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:107939600-107940400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:107939600-107940400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:107939600-107940400	Enhancers	Brain Substantia Nigra	brain
30	chr7:107939600-107940400	Enhancers	HSMM	muscle
31	chr7:107939600-107940400	Enhancers	HSMMtube	muscle
32	chr7:107939600-107940400	Enhancers	NHEK	skin
33	chr7:107939600-107940400	Enhancers	Osteobl	bone
34	chr7:107939600-107940600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:107939600-107940600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:107939600-107940600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:107939600-107940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:107939600-107940600	Enhancers	Fetal Intestine Large	intestine
39	chr7:107939600-107940600	Flanking Active TSS	A549	lung
40	chr7:107939600-107942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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