Variant report

Variant	rs12074751
Chromosome Location	chr1:92079373-92079374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12081914	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
2	chr1:92073800-92079400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92074000-92080000	Enhancers	NHDF-Ad	bronchial
4	chr1:92074800-92080000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:92075400-92079400	Weak transcription	Fetal Heart	heart
6	chr1:92075800-92079400	Enhancers	A549	lung
7	chr1:92075800-92088200	Weak transcription	Right Atrium	heart
8	chr1:92077400-92079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:92077400-92082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:92077400-92082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:92077800-92083400	Enhancers	Hela-S3	cervix
12	chr1:92078000-92082800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:92078000-92082800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:92078000-92082800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:92078000-92082800	Weak transcription	Lung	lung
16	chr1:92078000-92083200	Weak transcription	Colonic Mucosa	Colon
17	chr1:92078000-92088200	Weak transcription	Ovary	ovary
18	chr1:92078200-92079400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:92078200-92082200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:92078600-92079400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:92078800-92079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:92079000-92080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:92079000-92080000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:92079000-92080000	Enhancers	HSMMtube	muscle
25	chr1:92079200-92079400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:92079200-92079600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:92079200-92079600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:92079200-92079600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:92079200-92079600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:92079200-92079600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:92079200-92079600	Enhancers	Fetal Muscle Leg	muscle
32	chr1:92079200-92079600	Enhancers	NHLF	lung
33	chr1:92079200-92079800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:92079200-92079800	Enhancers	NHEK	skin
35	chr1:92079200-92080000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:92079200-92080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:92079200-92080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:92079200-92080000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:92079200-92080000	Enhancers	Placenta	Placenta
40	chr1:92079200-92080000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:92079200-92080000	Enhancers	Stomach Mucosa	stomach

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