Variant report

Variant	rs10134805
Chromosome Location	chr14:45552631-45552632
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	MAZ	chr14:45552615-45553937	Hela-S3	cervix:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
2	MTA3	chr14:45552429-45553953	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:45552617-45553946	GM12878	blood:	n/a	n/a
4	RELA	chr14:45552582-45553915	GM18951	blood:	n/a	n/a
5	ZNF143	chr14:45552558-45552725	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr14:45552259-45554589	IMR90	lung:	n/a	chr14:45553275-45553284
7	RELA	chr14:45552489-45553915	GM15510	blood:	n/a	n/a
8	POLR2A	chr14:45552559-45553950	HEK293	kidney:	n/a	n/a
9	RELA	chr14:45552415-45553631	GM19193	blood:	n/a	n/a
10	NRF1	chr14:45552611-45553525	GM12878	blood:	n/a	chr14:45553305-45553319 chr14:45553307-45553316 chr14:45553305-45553316 chr14:45553305-45553316
11	POLR2A	chr14:45552301-45553981	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45552187..45554745-chr9:139890498..139892780,2	MCF-7	breast:
2	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:
3	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
4	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
5	chr14:45430704..45432872-chr14:45551768..45554827,3	K562	blood:
6	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
7	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
8	chr14:45552300..45554795-chr14:45602332..45605115,2	K562	blood:
9	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212615	TF binding region
PRPF39	TF binding region
ENSG00000185246	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000239043	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000179454	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10132762	0.88[AFR][1000 genomes]
rs17115678	0.82[AFR][1000 genomes]
rs28386938	0.94[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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
2	chr14:45509200-45553000	Weak transcription	Gastric	stomach
3	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
4	chr14:45524800-45552800	Weak transcription	Placenta	Placenta
5	chr14:45524800-45553400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:45535600-45553000	Weak transcription	Small Intestine	intestine
7	chr14:45543000-45552800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:45551400-45552800	Enhancers	Fetal Intestine Large	intestine
9	chr14:45551600-45553000	Flanking Active TSS	A549	lung
10	chr14:45551800-45552800	Enhancers	Fetal Intestine Small	intestine
11	chr14:45551800-45553000	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr14:45552000-45552800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr14:45552200-45552800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:45552200-45553600	Active TSS	Primary hematopoietic stem cells	blood
15	chr14:45552400-45552800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:45552400-45552800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:45552400-45552800	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:45552400-45552800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:45552400-45552800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:45552400-45553200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:45552400-45553200	Flanking Active TSS	Dnd41	blood
22	chr14:45552600-45552800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:45552600-45552800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:45552600-45552800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:45552600-45552800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:45552600-45552800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:45552600-45552800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:45552600-45552800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:45552600-45552800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:45552600-45552800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:45552600-45552800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:45552600-45552800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr14:45552600-45552800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr14:45552600-45552800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:45552600-45552800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:45552600-45552800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:45552600-45552800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr14:45552600-45552800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr14:45552600-45552800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr14:45552600-45552800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:45552600-45552800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:45552600-45552800	Enhancers	Aorta	Aorta
43	chr14:45552600-45552800	Active TSS	Brain Angular Gyrus	brain
44	chr14:45552600-45552800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr14:45552600-45552800	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr14:45552600-45552800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr14:45552600-45552800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:45552600-45552800	Enhancers	Esophagus	oesophagus
49	chr14:45552600-45552800	Flanking Active TSS	Fetal Brain Female	brain
50	chr14:45552600-45552800	Flanking Active TSS	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links