Variant report

Variant	rs236329
Chromosome Location	chr1:94059039-94059040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94058909-94059465	HepG2	liver:	n/a	n/a
2	MXI1	chr1:94058292-94059611	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:94058911-94059061	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr1:94058049-94059051	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr1:94058426-94059045	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr1:94056964-94059251	HepG2	liver:	n/a	chr1:94057611-94057621

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000224093	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17110124	0.95[ASN][1000 genomes]
rs2281474	0.94[ASN][1000 genomes]
rs236321	0.91[EUR][1000 genomes]
rs236322	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236323	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236326	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236330	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236331	0.98[ASN][1000 genomes]
rs236332	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236333	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236335	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767973	0.92[ASN][1000 genomes]
rs3767975	0.91[ASN][1000 genomes]
rs3767976	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767977	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57012808	0.94[ASN][1000 genomes]
rs57466479	0.92[ASN][1000 genomes]
rs57914444	0.92[ASN][1000 genomes]
rs59777284	0.92[ASN][1000 genomes]
rs6661488	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671749	0.98[ASN][1000 genomes]
rs6692801	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7516400	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518795	0.97[ASN][1000 genomes]
rs7519939	0.98[ASN][1000 genomes]
rs7524368	0.92[ASN][1000 genomes]
rs7551964	0.98[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
4	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:94053600-94063000	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr1:94054400-94061000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:94054600-94062000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:94055000-94059200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:94055800-94061000	Weak transcription	Aorta	Aorta
16	chr1:94056000-94066000	Weak transcription	Ovary	ovary
17	chr1:94056800-94060200	Enhancers	Pancreas	Pancrea
18	chr1:94057000-94060200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94057000-94060200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:94057000-94060200	Genic enhancers	HMEC	breast
21	chr1:94057200-94060000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr1:94057200-94060200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:94057200-94060400	Enhancers	Left Ventricle	heart
24	chr1:94057200-94060400	Enhancers	Psoas Muscle	Psoas
25	chr1:94057400-94068000	Genic enhancers	HSMM	muscle
26	chr1:94057400-94069200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94057400-94071000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:94057600-94059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:94057600-94061000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:94057800-94059600	Weak transcription	Osteobl	bone
32	chr1:94057800-94059800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94057800-94060200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94057800-94060200	Enhancers	Esophagus	oesophagus
35	chr1:94057800-94061800	Enhancers	Placenta	Placenta
36	chr1:94058000-94059200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:94058000-94059600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:94058000-94059600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:94058000-94059800	Weak transcription	Fetal Thymus	thymus
40	chr1:94058000-94060000	Bivalent Enhancer	Fetal Heart	heart
41	chr1:94058000-94060000	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:94058000-94060200	Enhancers	Right Atrium	heart
43	chr1:94058000-94062000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:94058000-94062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:94058000-94062800	Genic enhancers	NHEK	skin
46	chr1:94058000-94066600	Enhancers	Adipose Nuclei	Adipose
47	chr1:94058000-94066600	Enhancers	Fetal Muscle Leg	muscle
48	chr1:94058200-94059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:94058200-94059400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94058200-94059400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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