Variant report

Variant	rs6576776
Chromosome Location	chr1:86050077-86050078
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:86047678..86050164-chr1:86058941..86062209,3	MCF-7	breast:
2	chr1:85957596..85960543-chr1:86049198..86051756,2	K562	blood:
3	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
4	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
5	chr1:86049707..86051912-chr1:86063181..86065060,2	MCF-7	breast:
6	chr1:86048046..86050238-chr1:86420456..86423004,2	K562	blood:
7	chr1:85742629..85744835-chr1:86047474..86050446,2	MCF-7	breast:
8	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
9	chr1:86048055..86050244-chr1:86170828..86173299,2	MCF-7	breast:
10	chr1:86049608..86052158-chr1:86093207..86095698,2	MCF-7	breast:
11	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
12	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
13	chr1:86048276..86051402-chr1:86117655..86121071,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230285	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000117174	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000199934	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12758966	1.00[YRI][hapmap]
rs9793556	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86047600-86050600	Weak transcription	K562	blood
2	chr1:86048400-86052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:86048600-86050600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:86048600-86053400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:86048800-86050200	Active TSS	Right Ventricle	heart
6	chr1:86048800-86050800	Enhancers	HepG2	liver
7	chr1:86048800-86051000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:86048800-86053600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:86048800-86081200	Weak transcription	Gastric	stomach
10	chr1:86049000-86050200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:86049000-86050400	Active TSS	Aorta	Aorta
12	chr1:86049000-86050600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:86049000-86050600	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:86049000-86050800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:86049000-86051000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:86049000-86052200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:86049000-86052200	Weak transcription	Pancreas	Pancrea
18	chr1:86049000-86053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:86049000-86053600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
21	chr1:86049200-86050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:86049200-86050200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:86049200-86050400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:86049200-86050600	Enhancers	Colon Smooth Muscle	Colon
25	chr1:86049200-86050600	Enhancers	Hela-S3	cervix
26	chr1:86049200-86050800	Weak transcription	Liver	Liver
27	chr1:86049200-86050800	Active TSS	HSMM	muscle
28	chr1:86049200-86051000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:86049200-86051000	Active TSS	HUVEC	blood vessel
30	chr1:86049200-86051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:86049200-86053200	Weak transcription	Left Ventricle	heart
32	chr1:86049200-86053600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:86049400-86050800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:86049400-86051000	Enhancers	NHEK	skin
35	chr1:86049400-86053200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:86049400-86053600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:86049400-86053600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:86049600-86050200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:86049600-86050200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:86049600-86050200	Genic enhancers	Adipose Nuclei	Adipose
41	chr1:86049600-86050200	Flanking Active TSS	Fetal Heart	heart
42	chr1:86049600-86050400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:86049600-86050600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:86049600-86051000	Active TSS	NHDF-Ad	bronchial
45	chr1:86049600-86051600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:86049800-86050200	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:86049800-86050600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:86049800-86050600	Active TSS	Osteobl	bone
49	chr1:86049800-86050800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:86049800-86050800	Enhancers	Fetal Stomach	stomach

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