Variant report

Variant	rs59883033
Chromosome Location	chr1:78033534-78033535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78032016..78034356-chr1:78044391..78045977,2	K562	blood:
2	chr1:78030983..78033542-chr1:78034721..78037146,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs35178440	1.00[EUR][1000 genomes]
rs55790102	1.00[AFR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[EUR][1000 genomes]
rs58120905	1.00[EUR][1000 genomes]
rs59338720	1.00[EUR][1000 genomes]
rs60000721	1.00[EUR][1000 genomes]
rs60658102	1.00[EUR][1000 genomes]
rs61553400	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090643	0.86[AFR][1000 genomes]
rs74090646	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090649	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090651	0.86[AFR][1000 genomes]
rs74090653	1.00[EUR][1000 genomes]
rs74090654	1.00[AFR][1000 genomes]
rs74090658	0.86[AFR][1000 genomes]
rs74090661	1.00[AFR][1000 genomes]
rs74090669	1.00[EUR][1000 genomes]
rs74090673	1.00[EUR][1000 genomes]
rs74090678	1.00[EUR][1000 genomes]
rs74090686	1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78005600-78034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
3	chr1:78022600-78034000	Strong transcription	Primary T cells from cord blood	blood
4	chr1:78023200-78050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:78023400-78046200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:78023600-78035800	Strong transcription	HSMM	muscle
7	chr1:78023800-78048800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:78024600-78048000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:78024800-78038000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:78024800-78038000	Weak transcription	Pancreas	Pancrea
11	chr1:78024800-78048400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:78024800-78071000	Weak transcription	Gastric	stomach
13	chr1:78025000-78038000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:78025400-78050600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:78025800-78033800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:78026000-78049400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:78026400-78048800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:78026600-78033600	Strong transcription	NHDF-Ad	bronchial
19	chr1:78026600-78035400	Strong transcription	Fetal Thymus	thymus
20	chr1:78026800-78049200	Weak transcription	Colonic Mucosa	Colon
21	chr1:78027200-78049800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:78027400-78036000	Strong transcription	Dnd41	blood
23	chr1:78028400-78034200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:78028400-78035600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:78028600-78054600	Weak transcription	Esophagus	oesophagus
26	chr1:78029200-78034000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:78029400-78035400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:78029400-78035600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:78029400-78039800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:78029600-78034800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:78029800-78033600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:78029800-78038000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:78029800-78047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:78029800-78048000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:78029800-78050600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:78030000-78033800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:78030000-78033800	Strong transcription	HUVEC	blood vessel
38	chr1:78030000-78034800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:78030000-78035000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:78030000-78048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:78030200-78034000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:78030200-78034000	Strong transcription	GM12878-XiMat	blood
43	chr1:78030200-78034200	Strong transcription	Osteobl	bone
44	chr1:78030200-78034600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:78030200-78034800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:78030200-78034800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr1:78030200-78036000	Strong transcription	Liver	Liver
48	chr1:78030200-78048200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:78030200-78048800	Strong transcription	Fetal Intestine Large	intestine
50	chr1:78030200-78049400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links