Variant report

Variant	rs2291631
Chromosome Location	chr5:75013036-75013037
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	GABPA	chr5:75012570-75013564	K562	blood:	n/a	chr5:75013464-75013478 chr5:75013337-75013346 chr5:75013389-75013398 chr5:75013417-75013426
2	USF2	chr5:75012807-75013661	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:75012512-75013708	GM15510	blood:	n/a	n/a
4	TAF1	chr5:75012754-75013708	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr5:75012663-75013748	PANC-1	pancreas:	n/a	n/a
6	MAX	chr5:75012697-75013689	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr5:75012508-75013895	U87	brain:	n/a	n/a
8	RCOR1	chr5:75012655-75013763	K562	blood:	n/a	n/a
9	POLR2A	chr5:75012651-75013745	GM12878	blood:	n/a	n/a
10	TRIM28	chr5:75012739-75013630	K562	blood:	n/a	n/a
11	EP300	chr5:75012845-75013656	GM12878	blood:	n/a	chr5:75012943-75012957 chr5:75012947-75012956
12	MXI1	chr5:75012754-75013678	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr5:75012903-75013393	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr5:75012668-75013729	A549	lung:	n/a	n/a
15	FOS	chr5:75012846-75013549	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr5:75012583-75013709	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:75012480-75013705	MCF10A-Er-Src	breast:	n/a	n/a
18	RCOR1	chr5:75013035-75013724	HepG2	liver:	n/a	n/a
19	SPI1	chr5:75012557-75013466	GM12878	blood:	n/a	chr5:75012947-75012956 chr5:75012946-75012959 chr5:75012945-75012958 chr5:75012948-75012955 chr5:75012946-75012959
20	MAX	chr5:75012880-75013509	HepG2	liver:	n/a	n/a
21	HEY1	chr5:75012755-75013740	HepG2	liver:	n/a	n/a
22	ELF1	chr5:75012561-75013726	K562	blood:	n/a	chr5:75012947-75012958 chr5:75013355-75013364
23	CBX3	chr5:75012722-75013756	K562	blood:	n/a	n/a
24	NFYA	chr5:75012970-75013490	GM12878	blood:	n/a	chr5:75013312-75013330
25	RFX5	chr5:75012773-75013685	Hela-S3	cervix:	n/a	n/a
26	MAFF	chr5:75012787-75013378	K562	blood:	n/a	chr5:75013191-75013209
27	TAF1	chr5:75012947-75013700	HepG2	liver:	n/a	n/a
28	CBX3	chr5:75012808-75013351	K562	blood:	n/a	n/a
29	MYC	chr5:75012801-75013581	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:75012628-75013713	GM12878	blood:	n/a	n/a
31	ZNF143	chr5:75012738-75013661	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:75012891-75013293	A549	lung:	n/a	n/a
33	TBP	chr5:75012783-75013739	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr5:75012758-75013334	PFSK-1	brain:	n/a	n/a
35	STAT1	chr5:75012566-75013658	GM12878	blood:	n/a	chr5:75013263-75013271 chr5:75012633-75012645
36	BATF	chr5:75012773-75013177	GM12878	blood:	n/a	n/a
37	FOSL2	chr5:75012701-75013559	A549	lung:	n/a	n/a
38	MBD4	chr5:75012900-75013660	HepG2	liver:	n/a	n/a
39	IRF1	chr5:75012661-75013704	K562	blood:	n/a	chr5:75012944-75012953 chr5:75013336-75013350 chr5:75013385-75013399 chr5:75013416-75013430
40	EP300	chr5:75012741-75013366	K562	blood:	n/a	chr5:75012943-75012957 chr5:75012947-75012956
41	ELF1	chr5:75012604-75013669	GM12878	blood:	n/a	chr5:75012947-75012958 chr5:75013355-75013364
42	IRF3	chr5:75012894-75013475	Hela-S3	cervix:	n/a	chr5:75012944-75012953 chr5:75013336-75013350 chr5:75013385-75013399 chr5:75013416-75013430
43	TAF1	chr5:75012952-75013387	H1-neurons	neurons:	n/a	n/a
44	TAF1	chr5:75012812-75013345	K562	blood:	n/a	n/a
45	POLR2A	chr5:75012800-75013502	H1-neurons	neurons:	n/a	n/a
46	MAX	chr5:75012563-75013681	NB4	blood:	n/a	n/a
47	RFX5	chr5:75012863-75013661	GM12878	blood:	n/a	n/a
48	PML	chr5:75012745-75013429	K562	blood:	n/a	n/a
49	HEY1	chr5:75012772-75013708	K562	blood:	n/a	n/a
50	TCF7L2	chr5:75012557-75013727	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56734668..56737862-chr5:75011935..75014519,3	MCF-7	breast:
2	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
3	chr5:75004216..75010579-chr5:75011703..75014378,6	MCF-7	breast:
4	chr5:74991379..74992986-chr5:75011800..75013427,2	K562	blood:
5	chr5:75012994..75014594-chr5:75126997..75129169,2	K562	blood:
6	chr5:74981038..74984120-chr5:75011699..75013859,3	K562	blood:
7	chr17:3571470..3572129-chr5:75012688..75013610,2	Hela-S3	cervix:
8	chr5:75006833..75009692-chr5:75010741..75014580,11	K562	blood:

Variant related genes	Relation type
POC5	TF binding region
ENSG00000213977	Chromatin interaction
ENSG00000152359	Chromatin interaction
ENSG00000127774	Chromatin interaction
ENSG00000207333	Chromatin interaction
ENSG00000251419	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10045313	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10057461	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474443	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2307114	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744620	0.81[EUR][1000 genomes]
rs5744706	0.81[EUR][1000 genomes]
rs5744724	1.00[ASW][hapmap]
rs60739092	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6453139	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6865580	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875480	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs6898032	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75011800-75013200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:75011800-75013800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:75011800-75013800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:75011800-75013800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:75012000-75013600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:75012000-75013600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:75012000-75013600	Active TSS	HMEC	breast
8	chr5:75012000-75013800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:75012000-75013800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:75012000-75013800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:75012000-75013800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:75012000-75013800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:75012000-75013800	Active TSS	GM12878-XiMat	blood
14	chr5:75012000-75013800	Active TSS	HSMM	muscle
15	chr5:75012000-75013800	Active TSS	HSMMtube	muscle
16	chr5:75012200-75013400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:75012200-75013400	Active TSS	Fetal Stomach	stomach
18	chr5:75012200-75013600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:75012200-75013600	Active TSS	NHLF	lung
20	chr5:75012200-75013800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:75012200-75013800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:75012200-75013800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:75012200-75013800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:75012200-75013800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:75012200-75013800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:75012200-75013800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:75012200-75013800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:75012200-75013800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:75012200-75013800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:75012200-75013800	Active TSS	Fetal Kidney	kidney
31	chr5:75012200-75013800	Active TSS	K562	blood
32	chr5:75012200-75013800	Active TSS	NHDF-Ad	bronchial
33	chr5:75012200-75014000	Active TSS	A549	lung
34	chr5:75012400-75013200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr5:75012400-75013200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:75012400-75013400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:75012400-75013400	Active TSS	Fetal Thymus	thymus
38	chr5:75012400-75013400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr5:75012400-75013600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:75012400-75013600	Active TSS	Placenta	Placenta
41	chr5:75012400-75013600	Active TSS	Pancreas	Pancrea
42	chr5:75012400-75013800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:75012400-75013800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:75012400-75013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:75012400-75013800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr5:75012400-75013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:75012400-75013800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:75012400-75013800	Active TSS	Aorta	Aorta
49	chr5:75012400-75013800	Active TSS	Brain Substantia Nigra	brain
50	chr5:75012400-75013800	Active TSS	Colonic Mucosa	Colon

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