Variant report

Variant	rs552228196
Chromosome Location	chr5:14870857-14870858
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	RAD21	chr5:14870484-14870879	SK-N-SH_RA	brain:	n/a	n/a
2	MYC	chr5:14870188-14871312	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr5:14870528-14870865	GM12878	blood:	n/a	n/a
4	RCOR1	chr5:14870660-14871484	Hela-S3	cervix:	n/a	n/a
5	GATA1	chr5:14868966-14870915	PBDE	blood:	n/a	chr5:14870120-14870131
6	ZNF143	chr5:14870589-14871149	GM12878	blood:	n/a	n/a
7	MAX	chr5:14870433-14870928	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr5:14870531-14870904	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:14870340-14873263	A549	lung:	n/a	chr5:14872424-14872437
10	MYC	chr5:14870539-14871224	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
12	MAX	chr5:14870410-14870886	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
2	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
3	chr5:14727596..14728164-chr5:14870078..14871126,3	K562	blood:

Variant related genes	Relation type
ENSG00000272057	TF binding region
ENSG00000250662	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3439895	chr5:14870477-14873325	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3409961	chr5:14870827-14873250	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14868600-14871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:14869000-14871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:14869000-14871000	Enhancers	K562	blood
4	chr5:14869000-14871200	Flanking Active TSS	Dnd41	blood
5	chr5:14869000-14871200	Flanking Active TSS	Hela-S3	cervix
6	chr5:14869000-14871600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:14869200-14871200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:14869400-14873000	Active TSS	Aorta	Aorta
10	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
13	chr5:14869800-14871200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr5:14869800-14871200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr5:14869800-14871200	Flanking Active TSS	Liver	Liver
16	chr5:14869800-14871400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:14869800-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
19	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
21	chr5:14870000-14871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:14870000-14871200	Active TSS	Fetal Heart	heart
23	chr5:14870000-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:14870000-14872000	Active TSS	Right Atrium	heart
25	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
27	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
28	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
30	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
31	chr5:14870200-14871000	Active TSS	Brain Germinal Matrix	brain
32	chr5:14870200-14871200	Flanking Active TSS	HUVEC	blood vessel
33	chr5:14870200-14871400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:14870200-14871600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:14870200-14871600	Active TSS	Brain Substantia Nigra	brain
36	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
39	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:14870200-14872800	Active TSS	NHLF	lung
42	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:14870200-14873000	Active TSS	Gastric	stomach
45	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
46	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
48	chr5:14870200-14873000	Active TSS	Osteobl	bone
49	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain

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