Variant report

Variant	rs55889442
Chromosome Location	chr4:77136827-77136828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr4:77136098-77137279	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77136412..77137216-chr4:77157279..77157833,2	MCF-7	breast:
2	chr4:77135441..77137897-chr4:77152068..77153830,2	K562	blood:
3	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
4	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
5	chr4:77132690..77134987-chr4:77135558..77138954,3	K562	blood:

No data

Variant related genes	Relation type
FAM47E	TF binding region
SCARB2	TF binding region
ENSG00000138760	Chromatin interaction
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10032423	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12640185	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866975	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56153157	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59473442	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62303000	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675963	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685696	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9991301	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3436996	chr4:77132828-77137126	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77135200-77137400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:77135600-77137400	Enhancers	Esophagus	oesophagus
3	chr4:77135600-77137400	Enhancers	Lung	lung
4	chr4:77135600-77138600	Weak transcription	Ovary	ovary
5	chr4:77135600-77138800	Enhancers	Placenta	Placenta
6	chr4:77135800-77137000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:77135800-77137000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr4:77135800-77137000	Weak transcription	Aorta	Aorta
9	chr4:77135800-77137200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:77135800-77138200	Weak transcription	HSMMtube	muscle
11	chr4:77135800-77138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:77135800-77139000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:77135800-77139800	Weak transcription	Osteobl	bone
14	chr4:77135800-77140000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:77135800-77141000	Enhancers	Psoas Muscle	Psoas
16	chr4:77135800-77142200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:77135800-77147400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:77136000-77137000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:77136000-77137000	Enhancers	Pancreas	Pancrea
20	chr4:77136000-77137200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:77136000-77137200	Enhancers	Colonic Mucosa	Colon
22	chr4:77136000-77137400	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:77136000-77138000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:77136000-77138200	Weak transcription	NHEK	skin
25	chr4:77136000-77138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:77136000-77138600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:77136000-77139400	Enhancers	Fetal Muscle Leg	muscle
28	chr4:77136000-77139800	Weak transcription	A549	lung
29	chr4:77136000-77140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:77136000-77140000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:77136000-77140400	Weak transcription	NHDF-Ad	bronchial
32	chr4:77136000-77140400	Weak transcription	NHLF	lung
33	chr4:77136000-77140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:77136000-77142400	Enhancers	Fetal Intestine Large	intestine
35	chr4:77136000-77150600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:77136200-77137200	Enhancers	Brain Angular Gyrus	brain
37	chr4:77136200-77137800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:77136200-77138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:77136200-77138200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:77136200-77138200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:77136200-77138200	Weak transcription	HMEC	breast
42	chr4:77136200-77139000	Enhancers	HepG2	liver
43	chr4:77136200-77140200	Weak transcription	Right Atrium	heart
44	chr4:77136200-77142400	Enhancers	Liver	Liver
45	chr4:77136400-77137200	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:77136400-77137200	Weak transcription	Small Intestine	intestine
47	chr4:77136400-77137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:77136400-77137600	Weak transcription	Stomach Mucosa	stomach
49	chr4:77136400-77138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:77136400-77138200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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