Variant report

Variant	rs6573603
Chromosome Location	chr14:65786641-65786642
allele	G/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	EP300	chr14:65786205-65787098	SK-N-SH	brain:	n/a	n/a
2	EP300	chr14:65786361-65786731	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr14:65786595-65786864	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr14:65786375-65786842	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr14:65784449-65786800	GM12892	blood:	n/a	n/a
6	CEBPB	chr14:65786606-65786811	A549	lung:	n/a	chr14:65786702-65786713
7	CEBPB	chr14:65786596-65786778	IMR90	lung:	n/a	chr14:65786702-65786713
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10131559	1.00[EUR][1000 genomes]
rs1256529	1.00[EUR][1000 genomes]
rs1256532	1.00[EUR][1000 genomes]
rs1256533	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1256535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55791657	1.00[EUR][1000 genomes]
rs58419427	1.00[EUR][1000 genomes]
rs59483989	1.00[EUR][1000 genomes]
rs61735911	1.00[EUR][1000 genomes]
rs7144841	1.00[EUR][1000 genomes]
rs7157687	1.00[EUR][1000 genomes]
rs74056715	1.00[EUR][1000 genomes]
rs74056720	1.00[EUR][1000 genomes]
rs74059024	1.00[EUR][1000 genomes]
rs8004406	1.00[EUR][1000 genomes]
rs8014200	1.00[EUR][1000 genomes]
rs9972252	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:31 , 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	chr14:65785400-65787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:65785400-65787800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:65785600-65787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:65785600-65787800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:65785600-65788000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:65785600-65788000	Weak transcription	Fetal Thymus	thymus
12	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
13	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:65785800-65787800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:65786200-65787200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:65786200-65787800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:65786200-65787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:65786200-65788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:65786200-65789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:65786200-65789000	Enhancers	NHEK	skin
21	chr14:65786400-65787000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:65786400-65787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:65786400-65787400	Weak transcription	Small Intestine	intestine
24	chr14:65786400-65787400	Enhancers	GM12878-XiMat	blood
25	chr14:65786400-65789000	Enhancers	Hela-S3	cervix
26	chr14:65786600-65786800	Enhancers	A549	lung
27	chr14:65786600-65787600	Weak transcription	Primary T cells from cord blood	blood
28	chr14:65786600-65787600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:65786600-65787600	Weak transcription	Stomach Mucosa	stomach
30	chr14:65786600-65787600	Weak transcription	HMEC	breast
31	chr14:65786600-65787800	Weak transcription	Esophagus	oesophagus

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