Variant report

Variant	rs552422557
Chromosome Location	chr5:16936207-16936208
allele	C/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	MAX	chr5:16935297-16937596	ECC-1	luminal epithelium:	n/a	chr5:16936250-16936260
2	POLR2A	chr5:16935956-16937027	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr5:16936100-16936250	GM12874	blood:	n/a	n/a
4	POLR2A	chr5:16935258-16937038	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr5:16933278-16937116	IMR90	lung:	n/a	chr5:16936574-16936588 chr5:16935862-16935875 chr5:16934339-16934351 chr5:16934334-16934353 chr5:16937048-16937060
6	MXI1	chr5:16935348-16937016	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr5:16936199-16936427	K562	blood:	n/a	chr5:16936225-16936234
8	MAX	chr5:16935603-16936409	ECC-1	luminal epithelium:	n/a	chr5:16936250-16936260
9	NFIC	chr5:16935362-16936995	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr5:16935905-16936794	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr5:16935148-16937063	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr5:16935272-16937025	HUVEC	blood vessel:	n/a	n/a
13	MAZ	chr5:16935120-16937275	IMR90	lung:	n/a	chr5:16936250-16936260
14	TAF1	chr5:16935981-16936661	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:16935116-16937241	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:16936058-16936430	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr5:16936089-16936766	HCT-116	colon:	n/a	n/a
18	POLR2A	chr5:16935745-16936441	H1-hESC	embryonic stem cell:	n/a	n/a
19	HA-E2F1	chr5:16935133-16937673	MCF-7	breast:	n/a	chr5:16936225-16936234
20	POLR2A	chr5:16935565-16936909	MCF-7	breast:	n/a	n/a
21	RAD21	chr5:16933839-16937248	SK-N-SH	brain:	n/a	chr5:16936574-16936588 chr5:16935862-16935875 chr5:16934339-16934351 chr5:16934334-16934353 chr5:16937048-16937060
22	CTCF	chr5:16936120-16936270	HCPEpiC	choroid plexus:	n/a	n/a
23	POLR2A	chr5:16936153-16936715	Gliobla	brain:	n/a	n/a
24	MYC	chr5:16936054-16937283	NB4	blood:	n/a	chr5:16936250-16936260
25	CHD2	chr5:16935362-16937091	Hela-S3	cervix:	n/a	chr5:16936283-16936293
26	POLR2A	chr5:16935858-16937045	HL-60	blood:	n/a	n/a
27	MAZ	chr5:16935421-16937329	Hela-S3	cervix:	n/a	chr5:16936250-16936260
28	RAD21	chr5:16935721-16936288	H1-hESC	embryonic stem cell:	n/a	chr5:16935862-16935875
29	NFIC	chr5:16935404-16937062	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr5:16936058-16936441	U87	brain:	n/a	n/a
31	RAD21	chr5:16934132-16936236	Hela-S3	cervix:	n/a	chr5:16935862-16935875 chr5:16934339-16934351 chr5:16934334-16934353
32	POLR2A	chr5:16935474-16936800	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr5:16936120-16936270	HMEC	breast:	n/a	n/a
34	POLR2A	chr5:16936039-16936843	HCT-116	colon:	n/a	n/a
35	SIN3AK20	chr5:16935494-16936936	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr5:16934266-16936559	H1-neurons	neurons:	n/a	n/a
37	SIN3A	chr5:16935218-16937390	H1-hESC	embryonic stem cell:	n/a	chr5:16936829-16936842
38	POLR2A	chr5:16936089-16936441	U87	brain:	n/a	n/a
39	POLR2A	chr5:16935998-16936455	H1-hESC	embryonic stem cell:	n/a	n/a
40	SMC3	chr5:16933629-16937491	SK-N-SH	brain:	n/a	chr5:16936188-16936202 chr5:16936193-16936200 chr5:16934335-16934349 chr5:16935820-16935830
41	POLR2A	chr5:16934686-16936464	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr5:16935550-16936778	A549	lung:	n/a	n/a
43	SMC3	chr5:16934130-16937406	Hela-S3	cervix:	n/a	chr5:16936188-16936202 chr5:16936193-16936200 chr5:16934335-16934349 chr5:16935820-16935830
44	SP1	chr5:16935883-16937099	A549	lung:	n/a	chr5:16936249-16936261 chr5:16936250-16936264 chr5:16936642-16936652
45	POLR2A	chr5:16935310-16936757	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr5:16935989-16936468	H1-hESC	embryonic stem cell:	n/a	n/a
47	RCOR1	chr5:16934755-16937403	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr5:16935807-16936721	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr5:16936098-16936974	U87	brain:	n/a	n/a
50	MAX	chr5:16935927-16937073	NB4	blood:	n/a	chr5:16936250-16936260

No.	Distal block	Cell Line	Cell type
1	chr19:3785424..3786388-chr5:16935883..16936687,2	Hela-S3	cervix:
2	chr5:16934667..16937598-chr5:17155353..17157351,2	MCF-7	breast:
3	chr1:151511929..151514676-chr5:16935884..16938127,2	MCF-7	breast:
4	chr5:16913129..16917002-chr5:16934060..16938960,5	MCF-7	breast:

Variant related genes	Relation type
MYO10	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000251990	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000007264	Chromatin interaction
ENSG00000145555	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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3441038	chr5:16934977-16937825	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16931800-16937000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:16932600-16937000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:16932600-16937000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:16932600-16937200	Active TSS	HSMMtube	muscle
5	chr5:16933000-16936800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:16933000-16937400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:16933400-16937000	Active TSS	Gastric	stomach
8	chr5:16933400-16937000	Active TSS	A549	lung
9	chr5:16933600-16937000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:16933600-16937000	Active TSS	Aorta	Aorta
11	chr5:16933600-16937000	Active TSS	NHDF-Ad	bronchial
12	chr5:16933800-16936800	Active TSS	HUVEC	blood vessel
13	chr5:16933800-16936800	Active TSS	NH-A	brain
14	chr5:16933800-16937000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:16933800-16937000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:16933800-16937000	Active TSS	HSMM	muscle
17	chr5:16933800-16937000	Active TSS	NHLF	lung
18	chr5:16933800-16937200	Active TSS	Ovary	ovary
19	chr5:16934000-16936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:16934000-16936800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:16934000-16937000	Active TSS	Fetal Intestine Large	intestine
22	chr5:16934000-16937000	Active TSS	Fetal Lung	lung
23	chr5:16934000-16937000	Active TSS	Lung	lung
24	chr5:16934000-16937000	Active TSS	NHEK	skin
25	chr5:16934000-16937200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:16934200-16936800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:16934200-16936800	Active TSS	HMEC	breast
28	chr5:16934200-16937000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:16934200-16937000	Active TSS	Duodenum Mucosa	Duodenum
30	chr5:16934200-16937000	Active TSS	Fetal Kidney	kidney
31	chr5:16934200-16937000	Active TSS	Pancreas	Pancrea
32	chr5:16934200-16937000	Active TSS	Osteobl	bone
33	chr5:16934400-16936600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
34	chr5:16934400-16936800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr5:16934400-16936800	Active TSS	Small Intestine	intestine
36	chr5:16934400-16937000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr5:16934400-16937000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:16934400-16937000	Active TSS	Right Atrium	heart
39	chr5:16934400-16937000	Active TSS	Stomach Mucosa	stomach
40	chr5:16934400-16937200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr5:16934400-16937200	Active TSS	Esophagus	oesophagus
42	chr5:16934400-16937200	Active TSS	Psoas Muscle	Psoas
43	chr5:16934600-16936600	Active TSS	Placenta	Placenta
44	chr5:16934600-16936800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:16934600-16936800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:16934600-16937000	Active TSS	Fetal Intestine Small	intestine
47	chr5:16934800-16936400	Active TSS	Fetal Muscle Leg	muscle
48	chr5:16934800-16937000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:16934800-16937800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr5:16935000-16937000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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