Variant report

Variant	rs77553746
Chromosome Location	chr1:86078987-86078988
allele	C/T
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
ENSG00000153904	Chromatin interaction
ENSG00000142871	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:65 , 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	chr1:86076600-86079000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:86076600-86079000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:86076600-86079200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:86076600-86079200	Enhancers	Placenta	Placenta
8	chr1:86076600-86079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:86076600-86079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:86076600-86079400	Enhancers	Fetal Lung	lung
11	chr1:86076600-86080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:86076800-86079000	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:86076800-86079200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:86076800-86079200	Enhancers	Fetal Intestine Large	intestine
15	chr1:86076800-86079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:86076800-86079400	Enhancers	HMEC	breast
17	chr1:86077000-86079000	Enhancers	Ovary	ovary
18	chr1:86077000-86079000	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:86077000-86079200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:86077000-86083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:86077200-86079200	Enhancers	Fetal Intestine Small	intestine
22	chr1:86077400-86079000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:86077400-86079000	Enhancers	Fetal Kidney	kidney
24	chr1:86077400-86079200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:86077400-86079200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:86077400-86079200	Flanking Active TSS	NH-A	brain
27	chr1:86077600-86079200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:86077600-86079200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:86077600-86079200	Enhancers	HUVEC	blood vessel
30	chr1:86077600-86079200	Enhancers	NHEK	skin
31	chr1:86077600-86079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:86077600-86079600	Enhancers	HSMMtube	muscle
33	chr1:86077800-86079200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:86077800-86079400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:86077800-86079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:86077800-86081800	Weak transcription	Right Atrium	heart
37	chr1:86078000-86079000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:86078000-86079000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:86078000-86079200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:86078200-86079200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:86078200-86079200	Enhancers	Liver	Liver
42	chr1:86078400-86079000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:86078400-86079000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:86078400-86079000	Flanking Active TSS	HepG2	liver
45	chr1:86078400-86079200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:86078400-86079200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:86078400-86079200	Enhancers	Pancreas	Pancrea
48	chr1:86078400-86079200	Enhancers	Psoas Muscle	Psoas
49	chr1:86078400-86079200	Enhancers	Stomach Mucosa	stomach
50	chr1:86078400-86079400	Flanking Active TSS	NHDF-Ad	bronchial

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