Variant report

Variant	rs7715402
Chromosome Location	chr5:90679504-90679505
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:90678928-90679865	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:90675250-90680384	GM19099	blood:	n/a	n/a
3	PAX5	chr5:90678929-90679576	GM12878	blood:	n/a	n/a
4	ETS1	chr5:90679221-90679752	A549	lung:	n/a	n/a
5	YY1	chr5:90678907-90679702	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:90675273-90680230	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:90675508-90680307	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr5:90674657-90680962	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:90675650-90680258	K562	blood:	n/a	n/a
10	MYBL2	chr5:90678571-90679681	HepG2	liver:	n/a	n/a
11	BCLAF1	chr5:90678809-90679735	GM12878	blood:	n/a	chr5:90679207-90679220 chr5:90679204-90679217
12	ZNF384	chr5:90679447-90679933	GM12878	blood:	n/a	n/a
13	TCF12	chr5:90678197-90680213	A549	lung:	n/a	n/a
14	CEBPB	chr5:90679402-90680016	A549	lung:	n/a	chr5:90679881-90679894 chr5:90679662-90679674 chr5:90679883-90679894
15	POLR2A	chr5:90675390-90679948	GM19193	blood:	n/a	n/a
16	POLR2A	chr5:90674696-90680212	GM18505	blood:	n/a	n/a
17	SIN3A	chr5:90678307-90679768	GM12878	blood:	n/a	chr5:90679327-90679338
18	TAF1	chr5:90678151-90680134	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:90679400-90679550	HEEpiC	esophagus:	n/a	n/a
20	CEBPB	chr5:90679405-90680113	A549	lung:	n/a	chr5:90679881-90679894 chr5:90679662-90679674 chr5:90679883-90679894
21	WRNIP1	chr5:90678985-90680035	GM12878	blood:	n/a	n/a
22	TCF12	chr5:90678840-90679738	ECC-1	luminal epithelium:	n/a	n/a
23	TAF1	chr5:90678879-90679667	Hela-S3	cervix:	n/a	n/a
24	ARID3A	chr5:90678882-90679624	K562	blood:	n/a	n/a
25	TAF1	chr5:90678885-90679685	K562	blood:	n/a	n/a
26	ZNF217	chr5:90679345-90679718	MCF-7	breast:	n/a	n/a
27	HEY1	chr5:90678226-90679701	K562	blood:	n/a	n/a
28	MAX	chr5:90677458-90680252	NB4	blood:	n/a	chr5:90678077-90678086 chr5:90678078-90678085
29	POLR2A	chr5:90678245-90680054	MCF-7	breast:	n/a	n/a
30	CHD2	chr5:90678925-90680054	Hela-S3	cervix:	n/a	n/a
31	REST	chr5:90678955-90679679	MCF-7	breast:	n/a	chr5:90679211-90679220 chr5:90679214-90679227
32	MXI1	chr5:90675698-90680110	GM12878	blood:	n/a	chr5:90676872-90676887 chr5:90677625-90677634
33	GATA1	chr5:90675347-90681151	PBDE	blood:	n/a	chr5:90680794-90680801 chr5:90680794-90680803 chr5:90680794-90680801 chr5:90675376-90675387 chr5:90680567-90680576 chr5:90680794-90680801
34	NFIC	chr5:90678825-90679841	GM12878	blood:	n/a	n/a
35	MAZ	chr5:90678218-90680132	IMR90	lung:	n/a	n/a
36	POLR2A	chr5:90678914-90679603	GM12891	blood:	n/a	n/a
37	PML	chr5:90678867-90679605	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:90678801-90679753	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:90678802-90679700	Gliobla	brain:	n/a	n/a
40	EP300	chr5:90678434-90679789	K562	blood:	n/a	chr5:90679195-90679211
41	RELA	chr5:90678310-90680102	GM10847	blood:	n/a	n/a
42	CTCF	chr5:90679400-90679550	BE2_C	brain:	n/a	n/a
43	CEBPB	chr5:90678986-90680073	Hela-S3	cervix:	n/a	chr5:90679881-90679894 chr5:90679662-90679674 chr5:90679883-90679894
44	MAZ	chr5:90678929-90680097	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr5:90678433-90679932	HepG2	liver:	n/a	n/a
46	ZMIZ1	chr5:90678707-90679833	K562	blood:	n/a	n/a
47	TBL1XR1	chr5:90678867-90679853	GM12878	blood:	n/a	n/a
48	KAP1	chr5:90677547-90680092	HEK293	kidney:	n/a	n/a
49	TAF1	chr5:90678892-90679749	H1-neurons	neurons:	n/a	n/a
50	PML	chr5:90678681-90680102	GM12878	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90573090..90582351-chr5:90673821..90680716,23	K562	blood:
2	chr14:75517503..75518241-chr5:90679099..90679912,2	Hela-S3	cervix:
3	chr5:90678617..90679505-chr6:44214339..44214879,2	HCT-116	colon:
4	chr5:90098765..90101168-chr5:90678671..90680272,2	MCF-7	breast:
5	chr5:90574103..90582351-chr5:90673173..90681609,28	K562	blood:
6	chr5:89705042..89707173-chr5:90677000..90680355,4	K562	blood:
7	chr5:90605667..90612137-chr5:90676262..90681561,13	K562	blood:
8	chr19:34663107..34664057-chr5:90678871..90679513,2	Hela-S3	cervix:
9	chr19:12792291..12793217-chr5:90679034..90679801,2	Hela-S3	cervix:
10	chr5:90679008..90679587-chr8:21998902..21999515,2	Hela-S3	cervix:
11	chr15:41785165..41786030-chr5:90678927..90679709,2	Hela-S3	cervix:
12	chr5:90184781..90186579-chr5:90679255..90681231,2	MCF-7	breast:
13	chr5:90648751..90650913-chr5:90677656..90680010,2	MCF-7	breast:
14	chr5:90574805..90578594-chr5:90673900..90681432,13	MCF-7	breast:
15	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
16	chr5:89704232..89708009-chr5:90677895..90680741,3	K562	blood:
17	chr20:37554768..37555404-chr5:90678869..90679542,2	Hela-S3	cervix:
18	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
19	chr5:90560937..90569122-chr5:90675177..90680484,12	K562	blood:
20	chr5:90566438..90568033-chr5:90678850..90680369,2	MCF-7	breast:
21	chr5:90607483..90611926-chr5:90672625..90681906,20	MCF-7	breast:
22	chr5:90099269..90102186-chr5:90679396..90681079,2	MCF-7	breast:
23	chr17:39844844..39845736-chr5:90678793..90679512,2	Hela-S3	cervix:
24	chr3:154041824..154042808-chr5:90679335..90679856,2	Hela-S3	cervix:
25	chr12:64845005..64845840-chr5:90678787..90679555,2	Hela-S3	cervix:
26	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
27	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
28	chr2:173420452..173421308-chr5:90678657..90679530,2	Hela-S3	cervix:
29	chr5:34929495..34930450-chr5:90679024..90679643,2	Hela-S3	cervix:
30	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:

No data

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000257103	Chromatin interaction
ENSG00000119684	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000248323	Chromatin interaction
ENSG00000095059	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000251093	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000225205	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000101447	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000234292	Chromatin interaction
ENSG00000168476	Chromatin interaction
ENSG00000137825	Chromatin interaction
ENSG00000271762	Chromatin interaction
ENSG00000174953	Chromatin interaction
ENSG00000168724	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000240388	Chromatin interaction
ENSG00000212930	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000199643	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10041402	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10045280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10052492	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10054820	0.92[EUR][1000 genomes]
rs10058025	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10059163	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10063683	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs10073657	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073935	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1035476	0.91[EUR][1000 genomes]
rs1035477	0.92[EUR][1000 genomes]
rs10474352	0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs10474353	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10942634	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11948056	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948075	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11950530	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11955120	0.91[EUR][1000 genomes]
rs11959525	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs12110065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12110303	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12188467	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12651840	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654787	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs12655973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656350	0.92[EUR][1000 genomes]
rs1363839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477348	0.95[EUR][1000 genomes]
rs1477349	0.95[EUR][1000 genomes]
rs186717	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1895448	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1895449	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1964292	0.90[EUR][1000 genomes]
rs1966494	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2004483	0.93[EUR][1000 genomes]
rs2052553	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2059207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2059208	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2367353	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2367526	0.90[EUR][1000 genomes]
rs2839728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2887007	0.90[EUR][1000 genomes]
rs332531	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs332544	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35712350	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382199	0.92[EUR][1000 genomes]
rs60513756	0.93[EUR][1000 genomes]
rs6452951	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6452953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6452954	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66759971	0.91[EUR][1000 genomes]
rs6860948	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6865495	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6866191	0.92[EUR][1000 genomes]
rs6866923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6867091	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6869048	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6869717	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6882269	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs746637	0.94[CEU][hapmap];0.96[CHB][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7705465	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7708782	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs7718871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720132	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs7720235	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs889213	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9293568	0.92[EUR][1000 genomes]
rs9686361	0.92[EUR][1000 genomes]
rs985434	0.94[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90673800-90679800	Active TSS	NHLF	lung
2	chr5:90673800-90680800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:90674000-90680800	Active TSS	K562	blood
4	chr5:90674200-90680200	Active TSS	A549	lung
5	chr5:90674400-90680000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:90674400-90680200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:90674400-90680200	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:90674400-90680800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:90674600-90679600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:90674600-90679800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90674600-90679800	Active TSS	Duodenum Mucosa	Duodenum
12	chr5:90674600-90679800	Active TSS	Fetal Muscle Leg	muscle
13	chr5:90674600-90679800	Active TSS	HSMMtube	muscle
14	chr5:90674600-90679800	Active TSS	NH-A	brain
15	chr5:90674600-90680000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:90674600-90680000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:90674600-90680000	Active TSS	Brain Substantia Nigra	brain
18	chr5:90674600-90680000	Active TSS	Ovary	ovary
19	chr5:90674600-90680200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:90674600-90680200	Active TSS	Placenta Amnion	Placenta Amnion
21	chr5:90674600-90680400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:90674600-90680600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:90674600-90680600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:90674600-90680600	Active TSS	Psoas Muscle	Psoas
25	chr5:90674600-90680600	Active TSS	Right Ventricle	heart
26	chr5:90674600-90680800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:90674800-90679600	Active TSS	Fetal Thymus	thymus
28	chr5:90674800-90679600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:90674800-90679800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:90674800-90679800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr5:90674800-90679800	Active TSS	Fetal Lung	lung
32	chr5:90674800-90679800	Active TSS	Fetal Stomach	stomach
33	chr5:90674800-90679800	Active TSS	Stomach Smooth Muscle	stomach
34	chr5:90674800-90679800	Active TSS	Hela-S3	cervix
35	chr5:90674800-90680000	Active TSS	Aorta	Aorta
36	chr5:90674800-90680000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:90674800-90680000	Active TSS	Fetal Kidney	kidney
38	chr5:90674800-90680000	Active TSS	HMEC	breast
39	chr5:90674800-90680200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:90674800-90680200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr5:90674800-90680200	Active TSS	Fetal Intestine Small	intestine
42	chr5:90674800-90680200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:90674800-90680200	Active TSS	HSMM	muscle
44	chr5:90674800-90680200	Active TSS	NHDF-Ad	bronchial
45	chr5:90674800-90680800	Active TSS	Stomach Mucosa	stomach
46	chr5:90675000-90679600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:90675000-90679600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:90675000-90679600	Active TSS	HUVEC	blood vessel
49	chr5:90675000-90679800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:90675000-90679800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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