Variant report

Variant	rs6495131
Chromosome Location	chr15:75230502-75230503
allele	A/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	ZBTB33	chr15:75230416-75230703	HCT-116	colon:	n/a	n/a
2	MYBL2	chr15:75229835-75230887	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:75229985-75231003	PANC-1	pancreas:	n/a	n/a
4	USF1	chr15:75230222-75230895	A549	lung:	n/a	chr15:75230583-75230594 chr15:75230418-75230434
5	STAT3	chr15:75230410-75230646	MCF10A-Er-Src	breast:	n/a	n/a
6	NFIC	chr15:75229697-75230822	GM12878	blood:	n/a	n/a
7	YY1	chr15:75229737-75230955	H1-hESC	embryonic stem cell:	n/a	chr15:75230420-75230434 chr15:75230106-75230115 chr15:75230110-75230124 chr15:75229909-75229918
8	RAD21	chr15:75230334-75230508	K562	blood:	n/a	n/a
9	CEBPB	chr15:75229836-75230742	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr15:75230218-75230722	GM12891	blood:	n/a	n/a
11	YY1	chr15:75230169-75230797	GM12892	blood:	n/a	chr15:75230420-75230434
12	TAF1	chr15:75229699-75230706	K562	blood:	n/a	n/a
13	MAX	chr15:75229378-75231089	A549	lung:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
14	POLR2A	chr15:75230126-75230742	K562	blood:	n/a	n/a
15	EGR1	chr15:75230124-75230717	K562	blood:	n/a	chr15:75230485-75230498 chr15:75230485-75230498 chr15:75230484-75230499 chr15:75230485-75230499 chr15:75230485-75230498 chr15:75230487-75230497 chr15:75230488-75230497 chr15:75230486-75230497 chr15:75230485-75230498 chr15:75230487-75230497
16	E2F6	chr15:75229729-75230849	A549	lung:	n/a	chr15:75230074-75230083 chr15:75230106-75230115 chr15:75230535-75230544 chr15:75230365-75230374 chr15:75230423-75230432 chr15:75230490-75230502 chr15:75229907-75229917
17	PBX3	chr15:75230132-75230840	A549	lung:	n/a	n/a
18	POLR2A	chr15:75229986-75231014	U87	brain:	n/a	n/a
19	JUND	chr15:75229635-75230773	K562	blood:	n/a	n/a
20	TAF1	chr15:75230161-75230760	GM12891	blood:	n/a	n/a
21	PAX5	chr15:75230488-75230728	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr15:75230149-75230837	A549	lung:	n/a	n/a
23	GATA1	chr15:75229881-75230747	PBDE	blood:	n/a	n/a
24	TBL1XR1	chr15:75229753-75230730	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:75229805-75230697	A549	lung:	n/a	n/a
26	ZBTB7A	chr15:75229654-75230676	K562	blood:	n/a	n/a
27	NFIC	chr15:75229739-75230588	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr15:75229717-75230940	HUVEC	blood vessel:	n/a	n/a
29	CREB1	chr15:75230041-75230742	K562	blood:	n/a	n/a
30	POLR2A	chr15:75230118-75230806	U87	brain:	n/a	n/a
31	MAX	chr15:75230311-75230759	HUVEC	blood vessel:	n/a	chr15:75230423-75230433 chr15:75230487-75230496
32	JUND	chr15:75230267-75230535	HepG2	liver:	n/a	n/a
33	IRF1	chr15:75230238-75230745	K562	blood:	n/a	chr15:75230462-75230476
34	NRF1	chr15:75230041-75230706	GM12878	blood:	n/a	chr15:75230449-75230458 chr15:75230423-75230432 chr15:75230110-75230119
35	MAX	chr15:75229627-75230852	ECC-1	luminal epithelium:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
36	MYC	chr15:75229222-75231205	A549	lung:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
37	EP300	chr15:75230321-75230692	SK-N-SH_RA	brain:	n/a	chr15:75230427-75230436
38	BRCA1	chr15:75230414-75230610	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:75229845-75230952	GM12892	blood:	n/a	n/a
40	SP4	chr15:75230248-75230839	H1-hESC	embryonic stem cell:	n/a	chr15:75230464-75230475
41	MYC	chr15:75229621-75230741	K562	blood:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
42	HA-E2F1	chr15:75229626-75230856	MCF-7	breast:	n/a	chr15:75230074-75230083 chr15:75230106-75230115 chr15:75230535-75230544 chr15:75230365-75230374 chr15:75230423-75230432 chr15:75230490-75230502 chr15:75229907-75229917 chr15:75230490-75230501
43	FOXA1	chr15:75230304-75230705	T-47D	breast:	n/a	n/a
44	EP300	chr15:75229782-75230931	SK-N-SH	brain:	n/a	chr15:75230427-75230436 chr15:75229908-75229917 chr15:75229906-75229915
45	POLR2A	chr15:75229798-75230574	HepG2	liver:	n/a	n/a
46	MAX	chr15:75229680-75230851	H1-hESC	embryonic stem cell:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
47	RCOR1	chr15:75229728-75230761	K562	blood:	n/a	n/a
48	MAX	chr15:75229763-75230796	SK-N-SH	brain:	n/a	chr15:75230223-75230233 chr15:75230423-75230433 chr15:75230104-75230114 chr15:75230487-75230496
49	SP1	chr15:75229903-75231308	A549	lung:	n/a	chr15:75230422-75230434 chr15:75230464-75230475 chr15:75230422-75230434 chr15:75230464-75230476 chr15:75229951-75229960 chr15:75230176-75230185 chr15:75231071-75231085
50	PBX3	chr15:75229787-75230912	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75164573..75166914-chr15:75228746..75230664,2	K562	blood:
2	chr15:75180806..75183670-chr15:75227670..75231591,7	K562	blood:
3	chr15:75229924..75230785-chr3:9404209..9405065,2	Hela-S3	cervix:
4	chr15:75186057..75188212-chr15:75229416..75232067,2	MCF-7	breast:
5	chr15:75072694..75075672-chr15:75228478..75230738,4	K562	blood:
6	chr15:74906651..74909310-chr15:75228343..75231322,3	K562	blood:
7	chr15:75180371..75182934-chr15:75228872..75231935,3	MCF-7	breast:
8	chr15:75229969..75230839-chr17:7475832..7476452,2	Hela-S3	cervix:
9	chr15:75073739..75076026-chr15:75228940..75231737,2	MCF-7	breast:
10	chr15:75226056..75232063-chr15:75248745..75252832,9	MCF-7	breast:
11	chr15:75196219..75200292-chr15:75228985..75231952,6	MCF-7	breast:
12	chr15:75228700..75232954-chr15:75245461..75250546,13	K562	blood:
13	chr15:75196237..75205947-chr15:75227299..75233104,18	K562	blood:
14	chr15:75092442..75093966-chr15:75229581..75231570,2	MCF-7	breast:
15	chr15:75090885..75095958-chr15:75228068..75231576,5	K562	blood:
16	chr15:75229527..75231750-chr3:9834777..9836325,2	MCF-7	breast:
17	chr15:75196272..75199556-chr15:75229911..75232060,4	MCF-7	breast:
18	chr15:75133406..75136691-chr15:75228046..75231533,6	MCF-7	breast:
19	chr15:75072694..75075868-chr15:75228655..75230932,4	K562	blood:
20	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
21	chr15:75229749..75230657-chr21:43187069..43187794,2	HCT-116	colon:
22	chr15:75116807..75119405-chr15:75229123..75231541,2	K562	blood:
23	chr15:75191256..75201000-chr15:75228549..75233626,13	K562	blood:
24	chr15:75131716..75139878-chr15:75227772..75233177,11	MCF-7	breast:

Variant related genes	Relation type
COX5A	TF binding region
ENSG00000250151	Chromatin interaction
ENSG00000134077	Chromatin interaction
ENSG00000241553	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000196220	Chromatin interaction
ENSG00000254485	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000183421	Chromatin interaction
ENSG00000161960	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12906946	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12911781	0.90[EUR][1000 genomes]
rs12914369	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4886633	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6495124	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6495126	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6495127	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67411922	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7174968	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7495033	0.86[EUR][1000 genomes]
rs7497201	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8030362	1.00[CHB][hapmap]
rs8031937	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8042694	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6495131	ULK3	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75226600-75231000	Active TSS	GM12878-XiMat	blood
2	chr15:75228400-75231000	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr15:75228600-75231000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:75228600-75231000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr15:75228600-75231000	Active TSS	Left Ventricle	heart
6	chr15:75228600-75231000	Active TSS	Right Ventricle	heart
7	chr15:75228600-75231000	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr15:75228600-75231200	Active TSS	Colonic Mucosa	Colon
9	chr15:75228600-75231600	Active TSS	A549	lung
10	chr15:75228800-75230600	Active TSS	Hela-S3	cervix
11	chr15:75228800-75230600	Active TSS	K562	blood
12	chr15:75228800-75231000	Active TSS	Fetal Intestine Small	intestine
13	chr15:75228800-75231000	Active TSS	Psoas Muscle	Psoas
14	chr15:75228800-75231000	Active TSS	NHLF	lung
15	chr15:75228800-75231200	Active TSS	Thymus	Thymus
16	chr15:75229000-75230600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:75229000-75231000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:75229000-75231000	Active TSS	Small Intestine	intestine
19	chr15:75229000-75231200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:75229000-75231200	Active TSS	Fetal Intestine Large	intestine
21	chr15:75229200-75230600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:75229200-75230800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:75229200-75230800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:75229200-75230800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr15:75229200-75230800	Active TSS	Fetal Thymus	thymus
26	chr15:75229200-75231000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr15:75229200-75231000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr15:75229200-75231000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:75229200-75231000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:75229200-75231000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:75229200-75231000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:75229200-75231000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:75229200-75231000	Active TSS	Esophagus	oesophagus
34	chr15:75229200-75231000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:75229200-75231000	Active TSS	Lung	lung
36	chr15:75229200-75231000	Active TSS	HSMMtube	muscle
37	chr15:75229200-75231000	Active TSS	NH-A	brain
38	chr15:75229200-75231000	Active TSS	NHDF-Ad	bronchial
39	chr15:75229200-75231200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:75229200-75231200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr15:75229200-75231200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr15:75229200-75231200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:75229200-75231200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr15:75229200-75231200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:75229200-75231200	Active TSS	Brain Anterior Caudate	brain
46	chr15:75229200-75231200	Active TSS	Fetal Kidney	kidney
47	chr15:75229200-75231200	Active TSS	HMEC	breast
48	chr15:75229200-75231200	Active TSS	HSMM	muscle
49	chr15:75229400-75230600	Active TSS	Primary T cells fromperipheralblood	blood
50	chr15:75229400-75230800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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