Variant report

Variant	rs944142
Chromosome Location	chr1:86079023-86079024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86073392..86075755-chr1:86077364..86079429,2	MCF-7	breast:
2	chr1:86078304..86079156-chr1:86158309..86159087,4	MCF-7	breast:
3	chr1:86046521..86048351-chr1:86075953..86079253,3	MCF-7	breast:
4	chr1:86041810..86044112-chr1:86078850..86081561,2	K562	blood:
5	chr1:86045439..86048632-chr1:86076708..86079652,4	K562	blood:
6	chr1:86078662..86080625-chr1:86320837..86323478,2	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000153904	Chromatin interaction

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

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86073200-86082200	Weak transcription	Aorta	Aorta
3	chr1:86074200-86081200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:86076600-86079200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:86076600-86079200	Enhancers	Placenta	Placenta
6	chr1:86076600-86079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:86076600-86079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:86076600-86079400	Enhancers	Fetal Lung	lung
9	chr1:86076600-86080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:86076800-86079200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:86076800-86079200	Enhancers	Fetal Intestine Large	intestine
12	chr1:86076800-86079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:86076800-86079400	Enhancers	HMEC	breast
14	chr1:86077000-86079200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:86077000-86083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:86077200-86079200	Enhancers	Fetal Intestine Small	intestine
17	chr1:86077400-86079200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:86077400-86079200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:86077400-86079200	Flanking Active TSS	NH-A	brain
20	chr1:86077600-86079200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:86077600-86079200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:86077600-86079200	Enhancers	HUVEC	blood vessel
23	chr1:86077600-86079200	Enhancers	NHEK	skin
24	chr1:86077600-86079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:86077600-86079600	Enhancers	HSMMtube	muscle
26	chr1:86077800-86079200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:86077800-86079400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:86077800-86079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:86077800-86081800	Weak transcription	Right Atrium	heart
30	chr1:86078000-86079200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:86078200-86079200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:86078200-86079200	Enhancers	Liver	Liver
33	chr1:86078400-86079200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:86078400-86079200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:86078400-86079200	Enhancers	Pancreas	Pancrea
36	chr1:86078400-86079200	Enhancers	Psoas Muscle	Psoas
37	chr1:86078400-86079200	Enhancers	Stomach Mucosa	stomach
38	chr1:86078400-86079400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:86078600-86079200	Enhancers	Left Ventricle	heart
40	chr1:86078600-86079200	Enhancers	Hela-S3	cervix
41	chr1:86078600-86079600	Enhancers	HSMM	muscle
42	chr1:86078600-86080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:86078800-86079200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:86078800-86079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:86078800-86079400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:86078800-86079400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:86078800-86079400	Flanking Active TSS	Osteobl	bone
48	chr1:86078800-86081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:86078800-86081600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:86079000-86079200	Enhancers	HepG2	liver

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