Variant report

Variant	rs35057393
Chromosome Location	chr1:193067020-193067021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193064175..193068629-chr1:193089733..193092705,4	MCF-7	breast:
2	chr1:193064913..193067951-chr1:193071515..193073810,3	MCF-7	breast:
3	chr1:193065174..193067932-chr1:193091054..193092728,2	MCF-7	breast:
4	chr1:193037685..193039954-chr1:193066147..193067795,2	K562	blood:
5	chr1:193059192..193063185-chr1:193064077..193068056,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272579	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12531	1.00[EUR][1000 genomes]
rs34147192	1.00[EUR][1000 genomes]
rs34353394	1.00[EUR][1000 genomes]
rs34839876	0.85[AFR][1000 genomes]
rs35070966	1.00[EUR][1000 genomes]
rs35241972	1.00[EUR][1000 genomes]
rs35358794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35995477	1.00[EUR][1000 genomes]
rs41306225	1.00[EUR][1000 genomes]
rs41310923	1.00[EUR][1000 genomes]
rs56055376	1.00[EUR][1000 genomes]
rs56300484	1.00[EUR][1000 genomes]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
6	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
7	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
9	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
10	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
12	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:193053000-193067200	Weak transcription	Lung	lung
14	chr1:193053000-193067400	Weak transcription	NHEK	skin
15	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
16	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
19	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
20	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
23	chr1:193054200-193067200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:193054200-193072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:193054200-193072600	Weak transcription	Colonic Mucosa	Colon
26	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:193054400-193070400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:193054400-193072600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:193054400-193072600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:193054600-193072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:193054800-193073000	Weak transcription	Fetal Thymus	thymus
33	chr1:193055600-193071600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:193056200-193073200	Weak transcription	Brain Germinal Matrix	brain
35	chr1:193057400-193068200	Weak transcription	Ovary	ovary
36	chr1:193057800-193070200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:193058200-193070000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:193058800-193070000	Strong transcription	Osteobl	bone
39	chr1:193059200-193070200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:193059200-193070200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:193060000-193070200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:193060600-193072200	Weak transcription	HMEC	breast
43	chr1:193061000-193068400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:193061200-193071800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:193061400-193070000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:193061400-193070000	Strong transcription	Liver	Liver
47	chr1:193061400-193070000	Strong transcription	Fetal Intestine Large	intestine
48	chr1:193061600-193069600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:193061600-193069800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:193061600-193070000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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