Variant report

Variant	rs573083641
Chromosome Location	chr5:14869587-14869588
allele	A/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	GATA1	chr5:14868966-14870915	PBDE	blood:	n/a	chr5:14870120-14870131
2	RFX5	chr5:14869446-14870342	Hela-S3	cervix:	n/a	chr5:14870111-14870124
3	ATF1	chr5:14869476-14869665	K562	blood:	n/a	n/a
4	TAL1	chr5:14869314-14869597	K562	blood:	n/a	n/a
5	EP300	chr5:14869439-14869636	K562	blood:	n/a	n/a
6	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857

No.	Distal block	Cell Line	Cell type
1	chr5:14867615..14869927-chr5:14870237..14872388,4	K562	blood:
2	chr5:14864911..14869985-chr5:14870388..14873560,6	K562	blood:
3	chr1:11968024..11968902-chr5:14869583..14870398,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000272057	TF binding region
ENSG00000154122	Chromatin interaction
ENSG00000272057	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
3	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
4	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:14851600-14869800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:14855400-14870000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:14855400-14870000	Weak transcription	Placenta	Placenta
8	chr5:14861800-14870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:14864200-14870000	Weak transcription	Pancreas	Pancrea
10	chr5:14865200-14870200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:14866600-14870000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:14868000-14869600	Enhancers	Fetal Heart	heart
13	chr5:14868400-14869800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:14868600-14869600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:14868600-14869800	Enhancers	HepG2	liver
16	chr5:14868600-14870000	Enhancers	Colonic Mucosa	Colon
17	chr5:14868600-14871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:14868800-14869600	Enhancers	Right Atrium	heart
19	chr5:14868800-14869800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:14868800-14869800	Enhancers	Adipose Nuclei	Adipose
21	chr5:14868800-14869800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:14868800-14869800	Enhancers	Right Ventricle	heart
23	chr5:14868800-14869800	Enhancers	NHEK	skin
24	chr5:14868800-14870000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:14868800-14870200	Flanking Active TSS	Osteobl	bone
26	chr5:14869000-14869600	Enhancers	Brain Anterior Caudate	brain
27	chr5:14869000-14869600	Enhancers	Brain Germinal Matrix	brain
28	chr5:14869000-14869800	Enhancers	Primary T cells from cord blood	blood
29	chr5:14869000-14869800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:14869000-14869800	Enhancers	Brain Substantia Nigra	brain
31	chr5:14869000-14870000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr5:14869000-14870200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr5:14869000-14870200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr5:14869000-14871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:14869000-14871000	Enhancers	K562	blood
36	chr5:14869000-14871200	Flanking Active TSS	Dnd41	blood
37	chr5:14869000-14871200	Flanking Active TSS	Hela-S3	cervix
38	chr5:14869000-14871600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr5:14869200-14869600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:14869200-14869600	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr5:14869200-14869600	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr5:14869200-14869600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:14869200-14869600	Enhancers	HMEC	breast
44	chr5:14869200-14869600	Weak transcription	NHDF-Ad	bronchial
45	chr5:14869200-14869800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr5:14869200-14869800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:14869200-14869800	Weak transcription	Left Ventricle	heart
48	chr5:14869200-14869800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr5:14869200-14870000	Weak transcription	Lung	lung
50	chr5:14869200-14870000	Weak transcription	Stomach Mucosa	stomach

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