Variant report

Variant	rs74128318
Chromosome Location	chr1:174170032-174170033
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	chr1:174169989..174171765-chr1:174171980..174175775,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55687343	0.81[AFR][1000 genomes]
rs55773127	0.93[AFR][1000 genomes]
rs56106938	1.00[AFR][1000 genomes]
rs56179605	0.81[AFR][1000 genomes]
rs56204297	0.93[AFR][1000 genomes]
rs56223691	0.93[AFR][1000 genomes]
rs56713956	1.00[AFR][1000 genomes]
rs57774157	1.00[AFR][1000 genomes]
rs58997380	0.81[AFR][1000 genomes]
rs59753012	0.81[AFR][1000 genomes]
rs60717080	1.00[AFR][1000 genomes]
rs60843796	0.81[AFR][1000 genomes]
rs61077309	0.93[AFR][1000 genomes]
rs61288130	0.93[AFR][1000 genomes]
rs74128305	0.81[AFR][1000 genomes]
rs74128306	0.81[AFR][1000 genomes]
rs74128317	1.00[AFR][1000 genomes]
rs74128319	1.00[AFR][1000 genomes]
rs74128320	0.93[AFR][1000 genomes]
rs74128321	0.93[AFR][1000 genomes]
rs74128322	1.00[AFR][1000 genomes]
rs74128323	1.00[AFR][1000 genomes]
rs74128324	1.00[AFR][1000 genomes]
rs74128326	1.00[AFR][1000 genomes]
rs74128329	1.00[AFR][1000 genomes]
rs74128334	0.81[AFR][1000 genomes]
rs74128342	0.81[AFR][1000 genomes]
rs74128343	0.81[AFR][1000 genomes]
rs74128344	0.93[AFR][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	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
2	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
3	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:174159800-174170200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:174160000-174173600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174160600-174173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:174161000-174172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:174161000-174172400	Weak transcription	Fetal Intestine Large	intestine
10	chr1:174161000-174173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:174161000-174176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:174161600-174175000	Weak transcription	NHDF-Ad	bronchial
14	chr1:174161600-174178600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:174161800-174173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:174162000-174173800	Weak transcription	Hela-S3	cervix
17	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:174163800-174178200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:174164000-174170400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:174164000-174173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:174164000-174173000	Weak transcription	K562	blood
22	chr1:174164000-174173800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:174164200-174172200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:174167200-174178400	Weak transcription	Fetal Stomach	stomach
25	chr1:174167400-174175000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:174168600-174170200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:174169000-174170200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:174169000-174170200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:174169200-174170600	Enhancers	Dnd41	blood
30	chr1:174169200-174173400	Weak transcription	Fetal Heart	heart
31	chr1:174169400-174170600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:174169600-174170600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:174169800-174170200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:174169800-174172200	Weak transcription	Primary T cells from cord blood	blood
35	chr1:174170000-174170200	Strong transcription	GM12878-XiMat	blood

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