Variant report

Variant	rs55831232
Chromosome Location	chr5:74807690-74807691
allele	C/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	SIN3AK20	chr5:74807284-74807992	HepG2	liver:	n/a	n/a
2	SP1	chr5:74807348-74807932	GM12878	blood:	n/a	n/a
3	EP300	chr5:74806228-74807730	ECC-1	luminal epithelium:	n/a	chr5:74807358-74807372 chr5:74807368-74807382
4	POLR2A	chr5:74806998-74808039	A549	lung:	n/a	n/a
5	POLR2A	chr5:74807230-74807931	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr5:74806558-74808112	K562	blood:	n/a	chr5:74807423-74807442 chr5:74806850-74806861 chr5:74807425-74807435 chr5:74807425-74807447 chr5:74806737-74806748 chr5:74807422-74807442 chr5:74807426-74807434
7	ZNF263	chr5:74805797-74808068	HEK293-T-REx	kidney:	n/a	chr5:74807566-74807575 chr5:74807116-74807137 chr5:74807154-74807175
8	CREB1	chr5:74807262-74808063	ECC-1	luminal epithelium:	n/a	n/a
9	TBP	chr5:74807219-74807842	HepG2	liver:	n/a	n/a
10	YY1	chr5:74806864-74808023	A549	lung:	n/a	chr5:74807423-74807442 chr5:74807425-74807435 chr5:74807425-74807447 chr5:74807422-74807442 chr5:74807426-74807434
11	CREB1	chr5:74806657-74808264	GM12878	blood:	n/a	n/a
12	RCOR1	chr5:74807286-74808025	GM12878	blood:	n/a	n/a
13	BRCA1	chr5:74807457-74808122	Hela-S3	cervix:	n/a	n/a
14	GTF2F1	chr5:74807572-74808002	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr5:74807254-74808058	K562	blood:	n/a	n/a
16	POLR2A	chr5:74807131-74808186	GM12892	blood:	n/a	n/a
17	MAX	chr5:74807533-74808101	A549	lung:	n/a	n/a
18	POLR2A	chr5:74807129-74808007	U87	brain:	n/a	n/a
19	POLR2A	chr5:74807592-74807981	A549	lung:	n/a	n/a
20	ETS1	chr5:74807446-74808037	K562	blood:	n/a	chr5:74807710-74807717 chr5:74807708-74807721 chr5:74807965-74807975 chr5:74807709-74807722
21	CTCF	chr5:74807579-74807840	K562	blood:	n/a	n/a
22	NFIC	chr5:74807220-74807849	GM12878	blood:	n/a	n/a
23	EP300	chr5:74807323-74807814	SK-N-SH_RA	brain:	n/a	chr5:74807358-74807372 chr5:74807368-74807382
24	POLR2A	chr5:74806410-74808835	GM18505	blood:	n/a	n/a
25	TAF1	chr5:74806545-74808069	H1-neurons	neurons:	n/a	n/a
26	ZNF143	chr5:74807292-74808138	Hela-S3	cervix:	n/a	chr5:74807697-74807716 chr5:74807702-74807720 chr5:74807711-74807720 chr5:74807709-74807718
27	MAX	chr5:74805816-74808456	NB4	blood:	n/a	n/a
28	ETS1	chr5:74807460-74807981	GM12878	blood:	n/a	chr5:74807710-74807717 chr5:74807708-74807721 chr5:74807965-74807975 chr5:74807709-74807722
29	BHLHE40	chr5:74806658-74808093	HepG2	liver:	n/a	n/a
30	KAP1	chr5:74807631-74808004	U2OS	brain:	n/a	n/a
31	POLR2A	chr5:74807234-74808074	K562	blood:	n/a	n/a
32	MAX	chr5:74806484-74808141	HepG2	liver:	n/a	n/a
33	CUX1	chr5:74807648-74808553	K562	blood:	n/a	n/a
34	POLR2A	chr5:74806479-74808595	PBDE	blood:	n/a	n/a
35	POLR2A	chr5:74807215-74808282	K562	blood:	n/a	n/a
36	HEY1	chr5:74807171-74808151	K562	blood:	n/a	n/a
37	SMARCC2	chr5:74806421-74808079	Hela-S3	cervix:	n/a	chr5:74807711-74807720
38	SP1	chr5:74807143-74808050	A549	lung:	n/a	n/a
39	PAX5	chr5:74807503-74808096	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:74807211-74808009	HCT-116	colon:	n/a	n/a
41	ELK1	chr5:74807546-74808055	Hela-S3	cervix:	n/a	n/a
42	HA-E2F1	chr5:74806466-74808228	MCF-7	breast:	n/a	chr5:74806842-74806851
43	POLR2A	chr5:74807121-74808136	GM12891	blood:	n/a	n/a
44	YY1	chr5:74806933-74807786	H1-hESC	embryonic stem cell:	n/a	chr5:74807423-74807442 chr5:74807425-74807435 chr5:74807425-74807447 chr5:74807422-74807442 chr5:74807426-74807434
45	POLR2A	chr5:74807074-74808242	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr5:74806602-74807928	MCF-7	breast:	n/a	n/a
47	TBL1XR1	chr5:74807269-74808517	K562	blood:	n/a	n/a
48	ELF1	chr5:74806567-74808222	MCF-7	breast:	n/a	chr5:74807967-74807976
49	YY1	chr5:74806780-74808072	HepG2	liver:	n/a	chr5:74807423-74807442 chr5:74806850-74806861 chr5:74807425-74807435 chr5:74807425-74807447 chr5:74807422-74807442 chr5:74807426-74807434
50	MAFK	chr5:74807586-74807768	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74807689-74807739	HL-60	blood:	n/a
2	chr5:74807689-74807739	ProgFib	skin:	n/a
3	chr5:74807689-74807739	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:74807689-74807739	SKMC	muscle:	n/a
5	chr5:74807689-74807739	HepG2	liver:	n/a
6	chr5:74807689-74807739	A549	lung:	n/a
7	chr5:74807689-74807739	BJ	skin:	n/a
8	chr5:74807689-74807739	GM06990	blood:	n/a
9	chr5:74807689-74807739	RPTEC	kidney:	n/a
10	chr5:74807689-74807739	HIPEpiC	eye:	n/a
11	chr5:74807689-74807739	MCF10A-Er-Src	breast:	n/a
12	chr5:74807689-74807739	HRPEpiC	eye:	n/a
13	chr5:74807689-74807739	Jurkat	blood:	n/a
14	chr5:74807689-74807739	HNPCEpiC	eye:	n/a
15	chr5:74807689-74807739	NH-A	brain:	n/a
16	chr5:74807689-74807739	SK-N-MC	brain:	n/a
17	chr5:74807689-74807739	HUVEC	blood vessel:	n/a
18	chr5:74807689-74807739	GM12878	blood:	n/a
19	chr5:74807689-74807739	K562	blood:	n/a
20	chr5:74807689-74807739	NHDF-neo	bronchial:	n/a
21	chr5:74807689-74807739	PANC-1	pancreas:	n/a
22	chr5:74807689-74807739	HMEC	breast:	n/a
23	chr5:74807689-74807739	Hepatocyte	liver:	n/a
24	chr5:74807689-74807739	AoSMC	blood vessel:	n/a
25	chr5:74807689-74807739	ovcar-3	ovarian:	n/a
26	chr5:74807689-74807739	HCF	heart:	n/a
27	chr5:74807689-74807739	AG09309	skin:	n/a
28	chr5:74807689-74807739	ECC-1	luminal epithelium:	n/a
29	chr5:74807689-74807739	BE2_C	brain:	n/a
30	chr5:74807689-74807739	Caco-2	colon:	n/a
31	chr5:74807689-74807739	AG04450	lung:	fetal
32	chr5:74807689-74807739	MCF-7	breast:	n/a
33	chr5:74807689-74807739	HCT-116	colon:	n/a
34	chr5:74807689-74807739	T-47D	breast:	n/a
35	chr5:74807689-74807739	HRCEpiC	kidney:	n/a
36	chr5:74807689-74807739	HCM	heart:	n/a
37	chr5:74807689-74807739	GM12891	blood:	n/a
38	chr5:74807689-74807739	AG04449	skin:	fetal
39	chr5:74807689-74807739	HEEpiC	esophagus:	n/a
40	chr5:74807689-74807739	PrEC	prostate:	n/a
41	chr5:74807689-74807739	CMK	blood:	n/a
42	chr5:74807689-74807739	AG10803	skin:	n/a
43	chr5:74807689-74807739	HRE	kidney:	n/a
44	chr5:74807689-74807739	NHBE	bronchial:	n/a
45	chr5:74807689-74807739	SAEC	small airway:	n/a
46	chr5:74807689-74807739	U87	brain:	n/a
47	chr5:74807689-74807739	HAEpiC	amniotic membrane:	n/a
48	chr5:74807689-74807739	Hela-S3	cervix:	n/a
49	chr5:74807689-74807739	GM12892	blood:	n/a
50	chr5:74807689-74807739	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:74806025..74808781-chr5:74906137..74908952,2	MCF-7	breast:
2	chr17:73150112..73150644-chr5:74807014..74807870,2	Hela-S3	cervix:
3	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:

Variant related genes	Relation type
POLK	TF binding region
COL4A3BP	TF binding region
POLK	CpG island
COL4A3BP	CpG island
ENSG00000247372	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000189045	Chromatin interaction
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1004201	0.84[ASN][1000 genomes]
rs10942740	1.00[ASN][1000 genomes]
rs11952534	1.00[ASN][1000 genomes]
rs11953883	1.00[ASN][1000 genomes]
rs1422441	1.00[ASN][1000 genomes]
rs1422442	1.00[ASN][1000 genomes]
rs16872696	1.00[ASN][1000 genomes]
rs16872701	1.00[ASN][1000 genomes]
rs16872710	1.00[ASN][1000 genomes]
rs1991450	1.00[ASN][1000 genomes]
rs2112348	1.00[ASN][1000 genomes]
rs35635349	1.00[AMR][1000 genomes]
rs3822587	1.00[ASN][1000 genomes]
rs55817530	1.00[ASN][1000 genomes]
rs55849961	1.00[ASN][1000 genomes]
rs55885461	1.00[ASN][1000 genomes]
rs56348108	1.00[ASN][1000 genomes]
rs57670471	1.00[ASN][1000 genomes]
rs6895148	1.00[ASN][1000 genomes]
rs888785	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74804000-74809000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:74804600-74808600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:74804600-74809800	Active TSS	NHLF	lung
4	chr5:74804800-74809600	Active TSS	K562	blood
5	chr5:74805000-74808600	Active TSS	Fetal Stomach	stomach
6	chr5:74805000-74810200	Active TSS	GM12878-XiMat	blood
7	chr5:74805200-74808200	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr5:74805200-74808400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:74805200-74808400	Active TSS	Brain Cingulate Gyrus	brain
10	chr5:74805200-74808600	Active TSS	HSMMtube	muscle
11	chr5:74805200-74809000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:74805200-74809000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:74805200-74809000	Active TSS	NHDF-Ad	bronchial
14	chr5:74805200-74809400	Active TSS	Right Atrium	heart
15	chr5:74805400-74808200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:74805400-74808400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr5:74805400-74808600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:74805400-74808600	Active TSS	Fetal Intestine Large	intestine
19	chr5:74805400-74808600	Active TSS	Right Ventricle	heart
20	chr5:74805400-74808600	Active TSS	HMEC	breast
21	chr5:74805400-74809000	Active TSS	Ovary	ovary
22	chr5:74805400-74809200	Active TSS	HSMM	muscle
23	chr5:74805400-74809400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:74805600-74808200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:74805600-74808200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:74805600-74808400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:74805600-74808400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:74805600-74808400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr5:74805600-74808400	Active TSS	Fetal Intestine Small	intestine
30	chr5:74805600-74808400	Active TSS	Hela-S3	cervix
31	chr5:74805600-74808600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr5:74805600-74808600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:74805600-74808600	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:74805600-74808600	Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:74805600-74808600	Active TSS	Psoas Muscle	Psoas
36	chr5:74805600-74808800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:74805600-74808800	Active TSS	Aorta	Aorta
38	chr5:74805800-74808200	Active TSS	Esophagus	oesophagus
39	chr5:74805800-74808200	Active TSS	Left Ventricle	heart
40	chr5:74805800-74808200	Active TSS	Pancreas	Pancrea
41	chr5:74805800-74808400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:74805800-74808400	Active TSS	NHEK	skin
43	chr5:74805800-74808600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:74805800-74808600	Active TSS	Colonic Mucosa	Colon
45	chr5:74805800-74808600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:74805800-74808600	Active TSS	Fetal Muscle Trunk	muscle
47	chr5:74805800-74808800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:74805800-74808800	Active TSS	Stomach Smooth Muscle	stomach
49	chr5:74805800-74809000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:74806000-74808000	Active TSS	Monocytes-CD14+_RO01746	blood

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