Variant report

Variant	rs56966413
Chromosome Location	chr14:65787417-65787418
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	NFIC	chr14:65787087-65789016	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:65787234-65788793	GM12878	blood:	n/a	n/a
3	PML	chr14:65787392-65788897	GM12878	blood:	n/a	chr14:65787614-65787623
4	POLR2A	chr14:65787398-65789209	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:65787410-65788545	GM12892	blood:	n/a	n/a
6	NFATC1	chr14:65787414-65788827	GM12878	blood:	n/a	n/a
7	MTA3	chr14:65787291-65788962	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65584840..65585848-chr14:65787349..65788348,7	MCF-7	breast:
2	chr14:65786705..65788416-chr14:65789425..65792152,2	MCF-7	breast:
3	chr14:65584842..65585718-chr14:65787405..65788348,4	MCF-7	breast:
4	chr14:65584759..65585412-chr14:65787360..65787996,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258760	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12100604	1.00[EUR][1000 genomes]
rs12100674	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17102582	1.00[EUR][1000 genomes]
rs17102614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465145	1.00[EUR][1000 genomes]
rs59324651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60514832	1.00[EUR][1000 genomes]
rs61004469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154681	1.00[EUR][1000 genomes]
rs8010623	1.00[EUR][1000 genomes]
rs8012057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014977	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65772400-65787800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:65779400-65787800	Weak transcription	Fetal Intestine Large	intestine
3	chr14:65781600-65787600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:65785400-65787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:65785400-65787800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:65785600-65787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:65785600-65787800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:65785600-65788000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:65785600-65788000	Weak transcription	Fetal Thymus	thymus
10	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
11	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:65785800-65787800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:65786200-65787800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:65786200-65787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:65786200-65788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:65786200-65789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:65786200-65789000	Enhancers	NHEK	skin
18	chr14:65786400-65789000	Enhancers	Hela-S3	cervix
19	chr14:65786600-65787600	Weak transcription	Primary T cells from cord blood	blood
20	chr14:65786600-65787600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:65786600-65787600	Weak transcription	Stomach Mucosa	stomach
22	chr14:65786600-65787600	Weak transcription	HMEC	breast
23	chr14:65786600-65787800	Weak transcription	Esophagus	oesophagus
24	chr14:65787200-65787600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:65787400-65788200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:65787400-65788400	Enhancers	Fetal Intestine Small	intestine
27	chr14:65787400-65788400	Enhancers	Small Intestine	intestine
28	chr14:65787400-65788600	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:65787400-65788600	Enhancers	A549	lung
30	chr14:65787400-65788800	Flanking Active TSS	GM12878-XiMat	blood
31	chr14:65787400-65789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:65787400-65789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:65787400-65789000	Enhancers	Placenta	Placenta

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