Variant report

Variant	rs34965970
Chromosome Location	chr1:45984182-45984183
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
2	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
3	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
4	chr1:45974188..45977589-chr1:45979134..45984422,9	MCF-7	breast:
5	chr1:45982844..45990993-chr1:46030121..46038313,25	K562	blood:
6	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
7	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
8	chr1:45478829..45481780-chr1:45982107..45984522,2	K562	blood:
9	chr1:45982314..45985214-chr1:46047500..46050905,5	MCF-7	breast:
10	chr1:45978447..45985278-chr1:46015169..46019739,8	MCF-7	breast:
11	chr1:45982735..45988890-chr1:46031987..46038228,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3219473	1.00[AMR][1000 genomes]
rs35210931	1.00[AMR][1000 genomes]
rs56656474	1.00[AMR][1000 genomes]
rs56695029	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57813129	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59234831	1.00[AMR][1000 genomes]
rs60301454	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60952228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45971600-45985000	Strong transcription	Fetal Stomach	stomach
4	chr1:45972800-45984400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:45972800-45984400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:45972800-45984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:45972800-45984600	Strong transcription	Fetal Thymus	thymus
8	chr1:45973000-45984400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:45973000-45984400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:45973000-45984600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:45973200-45984200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45973200-45984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:45973200-45984600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:45973200-45984600	Strong transcription	Adipose Nuclei	Adipose
15	chr1:45973400-45984200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:45973400-45984400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:45973400-45984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:45973600-45984200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:45973800-45984800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:45974200-45984600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:45974400-45984400	Strong transcription	Osteobl	bone
22	chr1:45975400-45984400	Strong transcription	NH-A	brain
23	chr1:45975400-45984800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:45975600-45984400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:45975600-45984400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:45977000-45984200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:45978600-45985000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:45979000-45984800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:45979400-45984800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:45980000-45984400	Genic enhancers	HSMMtube	muscle
31	chr1:45980000-45984600	Strong transcription	NHDF-Ad	bronchial
32	chr1:45980200-45985000	Genic enhancers	Liver	Liver
33	chr1:45980800-45984400	Strong transcription	HSMM	muscle
34	chr1:45980800-45984600	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr1:45981000-45984600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:45981000-45986000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:45981600-45984600	Weak transcription	Small Intestine	intestine
38	chr1:45981800-45984400	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr1:45981800-45984400	Genic enhancers	Brain Substantia Nigra	brain
40	chr1:45982000-45984400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:45982000-45985400	Transcr. at gene 5' and 3'	A549	lung
42	chr1:45982200-45984600	Genic enhancers	NHEK	skin
43	chr1:45982400-45984200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:45982400-45984400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:45982600-45984600	Weak transcription	Right Atrium	heart
46	chr1:45982800-45984200	Genic enhancers	Hela-S3	cervix
47	chr1:45982800-45984400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:45982800-45984800	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr1:45983000-45984200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:45983000-45984200	Strong transcription	Colon Smooth Muscle	Colon

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