Variant report

Variant	rs6882353
Chromosome Location	chr5:75013689-75013690
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	POLR2A	chr5:75012512-75013708	GM15510	blood:	n/a	n/a
2	TAF1	chr5:75012754-75013708	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr5:75012663-75013748	PANC-1	pancreas:	n/a	n/a
4	MAX	chr5:75012697-75013689	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr5:75012508-75013895	U87	brain:	n/a	n/a
6	RCOR1	chr5:75012655-75013763	K562	blood:	n/a	n/a
7	POLR2A	chr5:75012651-75013745	GM12878	blood:	n/a	n/a
8	TAF1	chr5:75012668-75013729	A549	lung:	n/a	n/a
9	MXI1	chr5:75012583-75013709	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:75012480-75013705	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr5:75013035-75013724	HepG2	liver:	n/a	n/a
12	HEY1	chr5:75012755-75013740	HepG2	liver:	n/a	n/a
13	ELF1	chr5:75012561-75013726	K562	blood:	n/a	chr5:75012947-75012958 chr5:75013355-75013364
14	CBX3	chr5:75012722-75013756	K562	blood:	n/a	n/a
15	TAF1	chr5:75012947-75013700	HepG2	liver:	n/a	n/a
16	REST	chr5:75013429-75013728	A549	lung:	n/a	n/a
17	POLR2A	chr5:75012628-75013713	GM12878	blood:	n/a	n/a
18	TBP	chr5:75012783-75013739	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr5:75012661-75013704	K562	blood:	n/a	chr5:75012944-75012953 chr5:75013336-75013350 chr5:75013385-75013399 chr5:75013416-75013430
20	HEY1	chr5:75012772-75013708	K562	blood:	n/a	n/a
21	TCF7L2	chr5:75012557-75013727	Hela-S3	cervix:	n/a	n/a
22	RELA	chr5:75012544-75013752	GM18505	blood:	n/a	n/a
23	MAX	chr5:75012730-75013762	MCF-7	breast:	n/a	n/a
24	TAF1	chr5:75012709-75013766	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr5:75012732-75013767	MCF-7	breast:	n/a	n/a
26	POLR2A	chr5:75012498-75013714	GM12891	blood:	n/a	n/a
27	POLR2A	chr5:75012788-75013785	HL-60	blood:	n/a	n/a
28	POLR2A	chr5:75012536-75013710	GM18526	blood:	n/a	n/a
29	POU2F2	chr5:75012544-75013745	GM12878	blood:	n/a	chr5:75012648-75012659 chr5:75013334-75013346
30	RELA	chr5:75012746-75013704	GM10847	blood:	n/a	n/a
31	POLR2A	chr5:75012517-75013853	SK-N-MC	brain:	n/a	n/a
32	MAX	chr5:75012708-75013799	HCT-116	colon:	n/a	n/a
33	POLR2A	chr5:75012723-75014178	HepG2	liver:	n/a	n/a
34	SP1	chr5:75012683-75013713	HCT-116	colon:	n/a	chr5:75013388-75013398 chr5:75013338-75013347 chr5:75013388-75013397 chr5:75013416-75013428 chr5:75013389-75013398 chr5:75013416-75013428 chr5:75013336-75013348 chr5:75013418-75013427 chr5:75013338-75013347 chr5:75013413-75013427 chr5:75013388-75013398 chr5:75013333-75013347 chr5:75013417-75013427 chr5:75013387-75013399 chr5:75013387-75013399 chr5:75013417-75013426 chr5:75013418-75013427 chr5:75013417-75013427 chr5:75013309-75013330 chr5:75012717-75012724 chr5:75013388-75013397 chr5:75013337-75013346 chr5:75013388-75013402 chr5:75012731-75012740
35	PAX5	chr5:75012721-75013769	GM12878	blood:	n/a	chr5:75012946-75012955
36	POLR2A	chr5:75012786-75013754	K562	blood:	n/a	n/a
37	POLR2A	chr5:75012538-75013749	GM12892	blood:	n/a	n/a
38	MYBL2	chr5:75012749-75013880	HepG2	liver:	n/a	n/a
39	MYC	chr5:75012676-75013703	K562	blood:	n/a	n/a
40	MAX	chr5:75012605-75013880	A549	lung:	n/a	n/a
41	STAT3	chr5:75013245-75013759	MCF10A-Er-Src	breast:	n/a	chr5:75013263-75013271
42	ELF1	chr5:75012551-75013736	MCF-7	breast:	n/a	chr5:75012947-75012958 chr5:75013355-75013364
43	MAZ	chr5:75012467-75013927	IMR90	lung:	n/a	n/a
44	SIX5	chr5:75012491-75013823	A549	lung:	n/a	n/a
45	CEBPB	chr5:75012803-75013701	Hela-S3	cervix:	n/a	n/a
46	MYC	chr5:75012617-75013699	NB4	blood:	n/a	n/a
47	POLR2A	chr5:75012826-75013701	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr5:75012815-75013758	HL-60	blood:	n/a	n/a
49	REST	chr5:75013345-75013718	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr5:75012508-75013889	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75013682-75013732	NT2-D1	testis:	n/a
2	chr5:75013682-75013732	HCF	heart:	n/a
3	chr5:75013682-75013732	GM12891	blood:	n/a
4	chr5:75013682-75013732	A549	lung:	n/a
5	chr5:75013682-75013732	LNCaP	prostate:	n/a
6	chr5:75013682-75013732	Hela-S3	cervix:	n/a
7	chr5:75013682-75013732	SK-N-SH	brain:	n/a
8	chr5:75013682-75013732	PANC-1	pancreas:	n/a
9	chr5:75013682-75013732	HCT-116	colon:	n/a
10	chr5:75013682-75013732	NB4	blood:	n/a
11	chr5:75013682-75013732	AG04449	skin:	fetal
12	chr5:75013682-75013732	ECC-1	luminal epithelium:	n/a
13	chr5:75013682-75013732	BJ	skin:	n/a
14	chr5:75013682-75013732	K562	blood:	n/a
15	chr5:75013682-75013732	GM12892	blood:	n/a
16	chr5:75013682-75013732	RPTEC	kidney:	n/a
17	chr5:75013682-75013732	AG04450	lung:	fetal
18	chr5:75013682-75013732	PrEC	prostate:	n/a
19	chr5:75013682-75013732	NH-A	brain:	n/a
20	chr5:75013682-75013732	NHDF-neo	bronchial:	n/a
21	chr5:75013682-75013732	HIPEpiC	eye:	n/a
22	chr5:75013682-75013732	HUVEC	blood vessel:	n/a
23	chr5:75013682-75013732	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:75013682-75013732	HEEpiC	esophagus:	n/a
25	chr5:75013682-75013732	HepG2	liver:	n/a
26	chr5:75013682-75013732	CMK	blood:	n/a
27	chr5:75013682-75013732	HMEC	breast:	n/a
28	chr5:75013682-75013732	GM19239	blood:	n/a
29	chr5:75013682-75013732	BE2_C	brain:	n/a
30	chr5:75013682-75013732	Jurkat	blood:	n/a
31	chr5:75013682-75013732	HRE	kidney:	n/a
32	chr5:75013682-75013732	HL-60	blood:	n/a
33	chr5:75013682-75013732	HEK293	kidney:	embryo
34	chr5:75013682-75013732	SK-N-MC	brain:	n/a
35	chr5:75013682-75013732	PFSK-1	brain:	n/a
36	chr5:75013682-75013732	HNPCEpiC	eye:	n/a
37	chr5:75013682-75013732	Hepatocyte	liver:	n/a
38	chr5:75013682-75013732	T-47D	breast:	n/a
39	chr5:75013682-75013732	HRCEpiC	kidney:	n/a
40	chr5:75013682-75013732	HRPEpiC	eye:	n/a
41	chr5:75013682-75013732	HCPEpiC	choroid plexus:	n/a
42	chr5:75013682-75013732	SKMC	muscle:	n/a
43	chr5:75013682-75013732	H1-hESC	embryonic stem cell:	embryo
44	chr5:75013682-75013732	SAEC	small airway:	n/a
45	chr5:75013682-75013732	AG10803	skin:	n/a
46	chr5:75013682-75013732	AG09319	gingival:	n/a
47	chr5:75013682-75013732	IMR90	lung:	fetal
48	chr5:75013682-75013732	GM12878	blood:	n/a
49	chr5:75013682-75013732	GM06990	blood:	n/a
50	chr5:75013682-75013732	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56734668..56737862-chr5:75011935..75014519,3	MCF-7	breast:
2	chr3:112738070..112738697-chr5:75013074..75013717,2	HCT-116	colon:
3	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
4	chr5:75004216..75010579-chr5:75011703..75014378,6	MCF-7	breast:
5	chr5:75012994..75014594-chr5:75126997..75129169,2	K562	blood:
6	chr5:74981038..74984120-chr5:75011699..75013859,3	K562	blood:
7	chr5:75006833..75009692-chr5:75010741..75014580,11	K562	blood:

Variant related genes	Relation type
POC5	TF binding region
POC5	CpG island
ENSG00000207333	Chromatin interaction
ENSG00000152359	Chromatin interaction
ENSG00000251419	Chromatin interaction
ENSG00000240057	Chromatin interaction
ENSG00000163608	Chromatin interaction
ENSG00000202077	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs5744554	1.00[AMR][1000 genomes]
rs57898445	1.00[AMR][1000 genomes]
rs6897256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75011800-75013800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:75011800-75013800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:75011800-75013800	Active TSS	Rectal Smooth Muscle	rectum
4	chr5:75012000-75013800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:75012000-75013800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:75012000-75013800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:75012000-75013800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:75012000-75013800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:75012000-75013800	Active TSS	GM12878-XiMat	blood
10	chr5:75012000-75013800	Active TSS	HSMM	muscle
11	chr5:75012000-75013800	Active TSS	HSMMtube	muscle
12	chr5:75012200-75013800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr5:75012200-75013800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:75012200-75013800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:75012200-75013800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:75012200-75013800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr5:75012200-75013800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:75012200-75013800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:75012200-75013800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:75012200-75013800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:75012200-75013800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:75012200-75013800	Active TSS	Fetal Kidney	kidney
23	chr5:75012200-75013800	Active TSS	K562	blood
24	chr5:75012200-75013800	Active TSS	NHDF-Ad	bronchial
25	chr5:75012200-75014000	Active TSS	A549	lung
26	chr5:75012400-75013800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr5:75012400-75013800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:75012400-75013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:75012400-75013800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:75012400-75013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:75012400-75013800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:75012400-75013800	Active TSS	Aorta	Aorta
33	chr5:75012400-75013800	Active TSS	Brain Substantia Nigra	brain
34	chr5:75012400-75013800	Active TSS	Colonic Mucosa	Colon
35	chr5:75012400-75013800	Active TSS	Esophagus	oesophagus
36	chr5:75012400-75013800	Active TSS	Fetal Brain Female	brain
37	chr5:75012400-75013800	Active TSS	Fetal Intestine Large	intestine
38	chr5:75012400-75013800	Active TSS	Fetal Intestine Small	intestine
39	chr5:75012400-75013800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:75012400-75013800	Active TSS	Left Ventricle	heart
41	chr5:75012400-75013800	Active TSS	Ovary	ovary
42	chr5:75012400-75013800	Active TSS	Psoas Muscle	Psoas
43	chr5:75012400-75013800	Active TSS	Right Ventricle	heart
44	chr5:75012600-75013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:75012600-75013800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:75012600-75013800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:75012600-75013800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:75012600-75013800	Active TSS	Fetal Lung	lung
49	chr5:75012600-75013800	Active TSS	Hela-S3	cervix
50	chr5:75012600-75013800	Bivalent/Poised TSS	HepG2	liver

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