Variant report

Variant	rs72737337
Chromosome Location	chr15:73075709-73075710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:73075465-73077050	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:73075297-73077061	GM18526	blood:	n/a	n/a
3	RAD21	chr15:73075098-73075772	Hela-S3	cervix:	n/a	n/a
4	NFYA	chr15:73075538-73076590	Hela-S3	cervix:	n/a	n/a
5	PML	chr15:73075103-73076973	GM12878	blood:	n/a	n/a
6	TAF1	chr15:73075655-73076589	GM12878	blood:	n/a	n/a
7	BCL3	chr15:73075160-73077073	A549	lung:	n/a	n/a
8	ETS1	chr15:73075692-73076299	K562	blood:	n/a	n/a
9	UBTF	chr15:73075119-73076818	K562	blood:	n/a	n/a
10	FOXP2	chr15:73075566-73076371	PFSK-1	brain:	n/a	n/a
11	CREB1	chr15:73075561-73076784	K562	blood:	n/a	n/a
12	CTCF	chr15:73075640-73075790	HA-sp	spinal cord:	n/a	n/a
13	CREB1	chr15:73075188-73077043	GM12878	blood:	n/a	n/a
14	CHD2	chr15:73075221-73077050	GM12878	blood:	n/a	n/a
15	HA-E2F1	chr15:73075621-73076318	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:73075309-73076914	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:73075232-73077064	GM12878	blood:	n/a	n/a
18	WRNIP1	chr15:73074942-73077820	GM12878	blood:	n/a	n/a
19	RAD21	chr15:73075519-73076968	SK-N-SH_RA	brain:	n/a	n/a
20	MAX	chr15:73075687-73076955	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr15:73075509-73077168	A549	lung:	n/a	n/a
22	POLR2A	chr15:73075654-73076727	PFSK-1	brain:	n/a	n/a
23	MAX	chr15:73075169-73076890	K562	blood:	n/a	n/a
24	POLR2A	chr15:73075096-73077163	PBDE	blood:	n/a	n/a
25	TAF1	chr15:73075635-73076383	PFSK-1	brain:	n/a	n/a
26	TAF1	chr15:73075268-73076595	MCF-7	breast:	n/a	n/a
27	CTCF	chr15:73075580-73075730	BJ	skin:	n/a	n/a
28	TAF1	chr15:73075411-73076578	ECC-1	luminal epithelium:	n/a	n/a
29	SRF	chr15:73075542-73076995	HCT-116	colon:	n/a	n/a
30	POLR2A	chr15:73075253-73077076	GM19193	blood:	n/a	n/a
31	NFATC1	chr15:73075707-73076337	GM12878	blood:	n/a	n/a
32	ETS1	chr15:73075606-73076314	GM12878	blood:	n/a	n/a
33	HEY1	chr15:73075594-73076586	K562	blood:	n/a	n/a
34	POLR2A	chr15:73075551-73076665	HUVEC	blood vessel:	n/a	n/a
35	CHD1	chr15:73075434-73076505	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr15:73075620-73075770	HRPEpiC	eye:	n/a	n/a
37	MAZ	chr15:73075073-73076880	GM12878	blood:	n/a	n/a
38	CTCF	chr15:73075588-73076921	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:73075276-73077031	GM15510	blood:	n/a	n/a
40	TBP	chr15:73075660-73076862	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr15:73075578-73076996	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:73075691-73076857	HUVEC	blood vessel:	n/a	n/a
43	ZBTB7A	chr15:73075623-73076296	K562	blood:	n/a	n/a
44	POU2F2	chr15:73075696-73076936	GM12878	blood:	n/a	n/a
45	TAF1	chr15:73075608-73076376	K562	blood:	n/a	n/a
46	POLR2A	chr15:73075568-73076700	MCF-7	breast:	n/a	n/a
47	SRF	chr15:73075592-73076703	HCT-116	colon:	n/a	n/a
48	POLR2A	chr15:73075257-73076982	HepG2	liver:	n/a	n/a
49	STAT1	chr15:73075501-73077015	Hela-S3	cervix:	n/a	chr15:73076291-73076302
50	CTCF	chr15:73075700-73075850	NHLF	lung:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:73075212..73078087-chr15:73342810..73345457,4	MCF-7	breast:
2	chr15:73075589..73076356-chr16:67217514..67218399,2	Hela-S3	cervix:
3	chr15:72978938..72981317-chr15:73074560..73077463,3	K562	blood:
4	chr15:73075417..73076054-chr3:15106277..15107138,2	NB4	blood:
5	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:
6	chr12:49658913..49659509-chr15:73075404..73075939,2	Hela-S3	cervix:
7	chr15:73023517..73026830-chr15:73073635..73076108,3	MCF-7	breast:
8	chr13:49549492..49550320-chr15:73075454..73076164,2	NB4	blood:
9	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:
10	chr15:73075553..73076361-chr19:41115491..41116301,2	Hela-S3	cervix:
11	chr15:72977264..72978956-chr15:73075083..73076901,2	MCF-7	breast:
12	chr15:72978938..72981317-chr15:73074560..73077463,2	K562	blood:
13	chr15:72976932..72978751-chr15:73073825..73076141,2	MCF-7	breast:
14	chr15:73075630..73076345-chr5:141302874..141303542,2	Hela-S3	cervix:
15	chr15:73073926..73075951-chr2:64751420..64752931,2	MCF-7	breast:
16	chr15:73075542..73076065-chr19:56154056..56155027,2	HCT-116	colon:
17	chr15:73014099..73017746-chr15:73074579..73076877,3	MCF-7	breast:
18	chr15:73075271..73075988-chr5:162887217..162887988,2	Hela-S3	cervix:
19	chr15:73023950..73025528-chr15:73074914..73077829,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73074465-73076667	ENSG00000247829
2	lnc-BBS4-1	chr15:73075176-73077537	ENSG00000247829
3	lnc-BBS4-1	chr15:73075176-73077537	ENSG00000260898.1

No data

Variant related genes	Relation type
ADPGK-AS1	TF binding region
ENSG00000081791	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000131368	Chromatin interaction
ENSG00000196123	Chromatin interaction
ENSG00000072571	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000102531	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000119844	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11072387	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12439375	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12441084	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12592955	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12594667	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12594938	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16957293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278543	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2415166	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28398258	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28502551	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3179616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34337823	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35136341	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35958407	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3759870	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776611	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4776616	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777528	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4777529	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4777530	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777533	0.91[ASN][1000 genomes]
rs4777537	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777538	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777540	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777543	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777545	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56915357	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57621041	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58600393	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59049627	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59152128	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60405894	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60601886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60674997	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61311866	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61632994	0.80[ASN][1000 genomes]
rs62017593	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62017623	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7178409	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72662112	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7495022	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8032586	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS 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 target site	25 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	chr15:73073800-73076800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr15:73074400-73076800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr15:73074400-73076800	Active TSS	NHLF	lung
4	chr15:73074600-73076400	Active TSS	GM12878-XiMat	blood
5	chr15:73074600-73076800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:73074600-73076800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:73074600-73076800	Active TSS	Rectal Smooth Muscle	rectum
8	chr15:73074600-73076800	Active TSS	A549	lung
9	chr15:73074600-73077000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:73074600-73077000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:73074600-73077000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:73074600-73077000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:73074600-73077000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:73074600-73077200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:73074800-73075800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr15:73074800-73076400	Active TSS	HSMMtube	muscle
17	chr15:73074800-73076800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:73074800-73076800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:73074800-73076800	Active TSS	Fetal Intestine Large	intestine
20	chr15:73074800-73076800	Active TSS	Psoas Muscle	Psoas
21	chr15:73074800-73076800	Active TSS	Right Atrium	heart
22	chr15:73074800-73076800	Active TSS	Right Ventricle	heart
23	chr15:73074800-73076800	Active TSS	HSMM	muscle
24	chr15:73074800-73076800	Active TSS	NHDF-Ad	bronchial
25	chr15:73074800-73077000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr15:73074800-73077000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:73075000-73076400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:73075000-73076600	Active TSS	Gastric	stomach
29	chr15:73075000-73076800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:73075000-73076800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:73075000-73076800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:73075000-73076800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:73075000-73076800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:73075000-73076800	Active TSS	Aorta	Aorta
35	chr15:73075000-73076800	Active TSS	Colonic Mucosa	Colon
36	chr15:73075000-73076800	Active TSS	Fetal Muscle Trunk	muscle
37	chr15:73075000-73076800	Active TSS	Left Ventricle	heart
38	chr15:73075000-73076800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr15:73075000-73076800	Active TSS	Dnd41	blood
40	chr15:73075000-73076800	Bivalent/Poised TSS	HepG2	liver
41	chr15:73075000-73077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr15:73075000-73077000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:73075000-73077000	Active TSS	Ovary	ovary
44	chr15:73075000-73077200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr15:73075000-73077200	Active TSS	Esophagus	oesophagus
46	chr15:73075200-73075800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:73075200-73076400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:73075200-73076400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:73075200-73076400	Active TSS	Fetal Brain Male	brain
50	chr15:73075200-73076400	Active TSS	Fetal Intestine Small	intestine

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