Variant report

Variant	rs111613869
Chromosome Location	chr5:14870698-14870699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

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	CTCF	chr5:14870640-14870790	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr5:14870580-14870730	GM12868	blood:	n/a	n/a
4	POLR2A	chr5:14870569-14870747	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:14870660-14870810	AG09319	gingival:	n/a	n/a
6	CTCF	chr5:14870640-14870790	GM12871	blood:	n/a	n/a
7	CTCF	chr5:14870586-14870784	GM12878	blood:	n/a	n/a
8	CTCF	chr5:14870608-14870740	GM12891	blood:	n/a	n/a
9	RCOR1	chr5:14870433-14870828	GM12878	blood:	n/a	n/a
10	CTCF	chr5:14870604-14870759	Fibrobl	skin:	n/a	n/a
11	CTCF	chr5:14870640-14870790	SK-N-SH_RA	brain:	n/a	n/a
12	MYC	chr5:14870188-14871312	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr5:14870640-14870790	GM12868	blood:	n/a	n/a
14	RAD21	chr5:14870557-14870806	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr5:14870560-14870710	HEK293	kidney:	n/a	n/a
16	CTCF	chr5:14870690-14870763	Medullo	brain:	n/a	n/a
17	CTCF	chr5:14870660-14870810	HMEC	breast:	n/a	n/a
18	CTCF	chr5:14870528-14870865	GM12878	blood:	n/a	n/a
19	RCOR1	chr5:14870660-14871484	Hela-S3	cervix:	n/a	n/a
20	GATA1	chr5:14868966-14870915	PBDE	blood:	n/a	chr5:14870120-14870131
21	CTCF	chr5:14870620-14870770	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr5:14870608-14870793	GM13977	blood:	n/a	n/a
23	CTCF	chr5:14870644-14870797	GM13976	blood:	n/a	n/a
24	CTCF	chr5:14870640-14870790	HCM	heart:	n/a	n/a
25	ZNF143	chr5:14870589-14871149	GM12878	blood:	n/a	n/a
26	CTCF	chr5:14870580-14870730	HCPEpiC	choroid plexus:	n/a	n/a
27	PBX3	chr5:14870569-14870715	GM12878	blood:	n/a	n/a
28	CTCF	chr5:14870580-14870730	GM12869	blood:	n/a	n/a
29	MAX	chr5:14870433-14870928	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr5:14870640-14870790	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr5:14870600-14870750	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr5:14870600-14870750	GM12875	blood:	n/a	n/a
33	CTCF	chr5:14870660-14870810	GM12865	blood:	n/a	n/a
34	CTCF	chr5:14870640-14870790	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr5:14870640-14870790	HEK293	kidney:	n/a	n/a
36	USF1	chr5:14870419-14870725	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr5:14870580-14870730	HAc	cerebellar:	n/a	n/a
38	CTCF	chr5:14870620-14870770	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr5:14870620-14870770	AG09319	gingival:	n/a	n/a
40	RAD21	chr5:14870531-14870904	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr5:14870589-14870799	GM19238	blood:	n/a	n/a
42	MYC	chr5:14870666-14870708	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr5:14870567-14870767	GM12878	blood:	n/a	n/a
44	CTCF	chr5:14870660-14870810	AG09309	skin:	n/a	n/a
45	CTCF	chr5:14870698-14870754	GM10248	blood:	n/a	n/a
46	SIN3A	chr5:14870596-14870761	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:14870600-14870750	GM12864	blood:	n/a	n/a
48	CTCF	chr5:14870577-14870756	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:14870600-14870750	GM12870	blood:	n/a	n/a
50	CTCF	chr5:14870680-14870830	RPTEC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14870666-14870716	HCPEpiC	choroid plexus:	n/a
2	chr5:14870666-14870716	PFSK-1	brain:	n/a
3	chr5:14870666-14870716	Hepatocyte	liver:	n/a
4	chr5:14870666-14870716	GM12878	blood:	n/a
5	chr5:14870666-14870716	PrEC	prostate:	n/a
6	chr5:14870666-14870716	Jurkat	blood:	n/a
7	chr5:14870666-14870716	U87	brain:	n/a
8	chr5:14870666-14870716	HRPEpiC	eye:	n/a
9	chr5:14870666-14870716	HCT-116	colon:	n/a
10	chr5:14870666-14870716	HEEpiC	esophagus:	n/a
11	chr5:14870666-14870716	RPTEC	kidney:	n/a
12	chr5:14870666-14870716	CMK	blood:	n/a
13	chr5:14870666-14870716	A549	lung:	n/a
14	chr5:14870666-14870716	AG04450	lung:	fetal
15	chr5:14870666-14870716	BE2_C	brain:	n/a
16	chr5:14870666-14870716	IMR90	lung:	fetal
17	chr5:14870666-14870716	SKMC	muscle:	n/a
18	chr5:14870666-14870716	HCF	heart:	n/a
19	chr5:14870666-14870716	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:14870666-14870716	Hela-S3	cervix:	n/a
21	chr5:14870666-14870716	HNPCEpiC	eye:	n/a
22	chr5:14870666-14870716	T-47D	breast:	n/a
23	chr5:14870666-14870716	PANC-1	pancreas:	n/a
24	chr5:14870666-14870716	GM12891	blood:	n/a
25	chr5:14870666-14870716	SK-N-SH_RA	brain:	n/a
26	chr5:14870666-14870716	MCF-7	breast:	n/a
27	chr5:14870666-14870716	HRE	kidney:	n/a
28	chr5:14870666-14870716	SK-N-SH	brain:	n/a
29	chr5:14870666-14870716	SAEC	small airway:	n/a
30	chr5:14870666-14870716	LNCaP	prostate:	n/a
31	chr5:14870666-14870716	H1-hESC	embryonic stem cell:	embryo
32	chr5:14870666-14870716	HL-60	blood:	n/a
33	chr5:14870666-14870716	HCM	heart:	n/a
34	chr5:14870666-14870716	HMEC	breast:	n/a
35	chr5:14870666-14870716	AG09319	gingival:	n/a
36	chr5:14870666-14870716	ECC-1	luminal epithelium:	n/a
37	chr5:14870666-14870716	NT2-D1	testis:	n/a
38	chr5:14870666-14870716	AoSMC	blood vessel:	n/a
39	chr5:14870666-14870716	NB4	blood:	n/a
40	chr5:14870666-14870716	HIPEpiC	eye:	n/a
41	chr5:14870666-14870716	HepG2	liver:	n/a
42	chr5:14870666-14870716	HRCEpiC	kidney:	n/a
43	chr5:14870666-14870716	HAEpiC	amniotic membrane:	n/a
44	chr5:14870666-14870716	Caco-2	colon:	n/a
45	chr5:14870666-14870716	BJ	skin:	n/a
46	chr5:14870666-14870716	SK-N-MC	brain:	n/a
47	chr5:14870666-14870716	NHBE	bronchial:	n/a
48	chr5:14870666-14870716	MCF10A-Er-Src	breast:	n/a
49	chr5:14870666-14870716	HUVEC	blood vessel:	n/a
50	chr5:14870666-14870716	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

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	chr5:14869200-14870800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr5:14869200-14870800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:14869200-14871200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
11	chr5:14869400-14873000	Active TSS	Aorta	Aorta
12	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
15	chr5:14869800-14870800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr5:14869800-14870800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr5:14869800-14870800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:14869800-14870800	Flanking Active TSS	Fetal Brain Male	brain
19	chr5:14869800-14870800	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:14869800-14870800	Flanking Active TSS	HepG2	liver
21	chr5:14869800-14870800	Flanking Active TSS	NHEK	skin
22	chr5:14869800-14871200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr5:14869800-14871200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:14869800-14871200	Flanking Active TSS	Liver	Liver
25	chr5:14869800-14871400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:14869800-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
28	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
30	chr5:14870000-14871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:14870000-14871200	Active TSS	Fetal Heart	heart
32	chr5:14870000-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:14870000-14872000	Active TSS	Right Atrium	heart
34	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
36	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
37	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
39	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
40	chr5:14870200-14870800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr5:14870200-14871000	Active TSS	Brain Germinal Matrix	brain
42	chr5:14870200-14871200	Flanking Active TSS	HUVEC	blood vessel
43	chr5:14870200-14871400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:14870200-14871600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:14870200-14871600	Active TSS	Brain Substantia Nigra	brain
46	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
49	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon

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