Variant report

Variant	rs73278048
Chromosome Location	chr14:65786560-65786561
allele	C/G
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	EP300	chr14:65786205-65787098	SK-N-SH	brain:	n/a	n/a
2	MTA3	chr14:65784450-65786633	GM12878	blood:	n/a	n/a
3	EP300	chr14:65786361-65786731	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr14:65784539-65786571	GM12878	blood:	n/a	n/a
5	EP300	chr14:65786375-65786842	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr14:65784449-65786800	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:65784545-65786608	GM12891	blood:	n/a	n/a
8	POLR2A	chr14:65786382-65786746	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr14:65786255-65786937	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000258760	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17102600	0.84[AFR][1000 genomes]
rs56921348	0.84[AFR][1000 genomes]
rs57134875	0.91[AFR][1000 genomes]
rs57309452	0.91[AFR][1000 genomes]
rs58794139	0.91[AFR][1000 genomes]
rs59515554	0.91[AFR][1000 genomes]
rs59633486	1.00[AFR][1000 genomes]
rs73278046	0.84[AFR][1000 genomes]
rs73278079	1.00[AFR][1000 genomes]
rs73278092	1.00[AFR][1000 genomes]
rs73278096	1.00[AFR][1000 genomes]
rs73278102	1.00[AFR][1000 genomes]
rs73280103	1.00[AFR][1000 genomes]
rs73280111	1.00[AFR][1000 genomes]
rs73280130	0.91[AFR][1000 genomes]
rs73280134	0.91[AFR][1000 genomes]
rs73282270	0.91[AFR][1000 genomes]
rs73282279	0.91[AFR][1000 genomes]
rs73282289	0.91[AFR][1000 genomes]
rs73282292	0.91[AFR][1000 genomes]
rs73282299	0.91[AFR][1000 genomes]
rs73282302	0.91[AFR][1000 genomes]
rs73284108	0.91[AFR][1000 genomes]
rs73284134	0.91[AFR][1000 genomes]
rs73284147	0.91[AFR][1000 genomes]
rs73284154	0.91[AFR][1000 genomes]
rs73284161	0.91[AFR][1000 genomes]
rs73284170	0.91[AFR][1000 genomes]
rs73284186	0.91[AFR][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:29 , 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	chr14:65784200-65786800	Weak transcription	Fetal Intestine Small	intestine
5	chr14:65784200-65787400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:65784800-65786600	Enhancers	Primary T cells from cord blood	blood
7	chr14:65785000-65786600	Weak transcription	Thymus	Thymus
8	chr14:65785400-65787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:65785400-65787800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:65785600-65787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:65785600-65787800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:65785600-65788000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:65785600-65788000	Weak transcription	Fetal Thymus	thymus
14	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
15	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:65785800-65787800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:65786200-65786600	Enhancers	Stomach Mucosa	stomach
18	chr14:65786200-65786600	Enhancers	HMEC	breast
19	chr14:65786200-65787200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:65786200-65787800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:65786200-65787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:65786200-65788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:65786200-65789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65786200-65789000	Enhancers	NHEK	skin
25	chr14:65786400-65787000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:65786400-65787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:65786400-65787400	Weak transcription	Small Intestine	intestine
28	chr14:65786400-65787400	Enhancers	GM12878-XiMat	blood
29	chr14:65786400-65789000	Enhancers	Hela-S3	cervix

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