Variant report

Variant	rs1058734
Chromosome Location	chr15:40862064-40862065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr15:40861332-40862180	MCF-7	breast:	n/a	n/a
2	MXI1	chr15:40860597-40862522	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr15:40861131-40862084	K562	blood:	n/a	n/a
4	MAX	chr15:40861278-40862304	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:40861190-40862158	GM18526	blood:	n/a	n/a
6	CREB1	chr15:40861179-40862180	GM12878	blood:	n/a	chr15:40861485-40861498
7	SIN3AK20	chr15:40861133-40862092	HCT-116	colon:	n/a	n/a
8	MAX	chr15:40861294-40862341	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:40861188-40862243	Hela-S3	cervix:	n/a	n/a
10	MAX	chr15:40861273-40862117	GM12878	blood:	n/a	n/a
11	PML	chr15:40861181-40862239	GM12878	blood:	n/a	n/a
12	MAX	chr15:40861245-40862207	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr15:40861094-40862147	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr15:40861160-40862093	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr15:40861147-40862223	HepG2	liver:	n/a	chr15:40861485-40861498
16	MAX	chr15:40861260-40862229	HepG2	liver:	n/a	n/a
17	GTF2F1	chr15:40861174-40862549	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:40861335-40862171	GM12878	blood:	n/a	n/a
19	MYC	chr15:40861217-40862325	NB4	blood:	n/a	n/a
20	POLR2A	chr15:40861137-40862666	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr15:40861263-40862117	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr15:40861069-40862121	K562	blood:	n/a	chr15:40861485-40861498
23	MAX	chr15:40861179-40862264	ECC-1	luminal epithelium:	n/a	n/a
24	MXI1	chr15:40861261-40862297	Hela-S3	cervix:	n/a	n/a
25	UBTF	chr15:40861487-40862122	K562	blood:	n/a	n/a
26	MYC	chr15:40862049-40862066	MCF-7	breast:	n/a	n/a
27	POLR2A	chr15:40861156-40862101	K562	blood:	n/a	n/a
28	POLR2A	chr15:40861207-40862402	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:40861157-40862136	GM19099	blood:	n/a	n/a
30	POLR2A	chr15:40861032-40862220	HUVEC	blood vessel:	n/a	n/a
31	ELF1	chr15:40861223-40862127	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:40861169-40862304	GM12892	blood:	n/a	n/a
33	POLR2A	chr15:40861306-40862093	MCF-7	breast:	n/a	n/a
34	POLR2A	chr15:40861188-40862109	HL-60	blood:	n/a	n/a
35	REST	chr15:40861120-40862223	H1-neurons	neurons:	n/a	n/a
36	MAZ	chr15:40861296-40862110	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:40861197-40862308	MCF10A-Er-Src	breast:	n/a	n/a
38	ELK1	chr15:40861927-40862129	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:40861156-40862190	H1-neurons	neurons:	n/a	n/a
40	MAX	chr15:40861314-40862136	K562	blood:	n/a	n/a
41	MXI1	chr15:40860999-40862622	IMR90	lung:	n/a	n/a
42	POLR2A	chr15:40861264-40862160	GM12878	blood:	n/a	n/a
43	ZKSCAN1	chr15:40861179-40862304	Hela-S3	cervix:	n/a	n/a
44	MYC	chr15:40860995-40862198	K562	blood:	n/a	n/a
45	POLR2A	chr15:40861225-40862093	ProgFib	skin:	n/a	n/a
46	POLR2A	chr15:40860888-40862953	PFSK-1	brain:	n/a	n/a
47	MAZ	chr15:40861163-40862207	IMR90	lung:	n/a	n/a
48	POLR2A	chr15:40861107-40862092	GM12878	blood:	n/a	n/a
49	MAX	chr15:40861219-40862203	Hela-S3	cervix:	n/a	n/a
50	SIN3A	chr15:40861246-40862164	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40862047-40862097	GM12878	blood:	n/a
2	chr15:40862047-40862097	MCF10A-Er-Src	breast:	n/a
3	chr15:40862047-40862097	NT2-D1	testis:	n/a
4	chr15:40862047-40862097	SK-N-MC	brain:	n/a
5	chr15:40862047-40862097	HEK293	kidney:	embryo
6	chr15:40862047-40862097	HCM	heart:	n/a
7	chr15:40862047-40862097	PFSK-1	brain:	n/a
8	chr15:40862047-40862097	HRPEpiC	eye:	n/a
9	chr15:40862047-40862097	HCPEpiC	choroid plexus:	n/a
10	chr15:40862047-40862097	GM12891	blood:	n/a
11	chr15:40862047-40862097	PANC-1	pancreas:	n/a
12	chr15:40862047-40862097	HNPCEpiC	eye:	n/a
13	chr15:40862047-40862097	AG09309	skin:	n/a
14	chr15:40862047-40862097	BJ	skin:	n/a
15	chr15:40862047-40862097	HEEpiC	esophagus:	n/a
16	chr15:40862047-40862097	NB4	blood:	n/a
17	chr15:40862047-40862097	HCT-116	colon:	n/a
18	chr15:40862047-40862097	MCF-7	breast:	n/a
19	chr15:40862047-40862097	Hepatocyte	liver:	n/a
20	chr15:40862047-40862097	HRE	kidney:	n/a
21	chr15:40862047-40862097	Jurkat	blood:	n/a
22	chr15:40862047-40862097	NH-A	brain:	n/a
23	chr15:40862047-40862097	HUVEC	blood vessel:	n/a
24	chr15:40862047-40862097	K562	blood:	n/a
25	chr15:40862047-40862097	HRCEpiC	kidney:	n/a
26	chr15:40862047-40862097	HIPEpiC	eye:	n/a
27	chr15:40862047-40862097	SKMC	muscle:	n/a
28	chr15:40862047-40862097	GM19239	blood:	n/a
29	chr15:40862047-40862097	AG04450	lung:	fetal
30	chr15:40862047-40862097	U87	brain:	n/a
31	chr15:40862047-40862097	CMK	blood:	n/a
32	chr15:40862047-40862097	AG10803	skin:	n/a
33	chr15:40862047-40862097	RPTEC	kidney:	n/a
34	chr15:40862047-40862097	SAEC	small airway:	n/a
35	chr15:40862047-40862097	NHDF-neo	bronchial:	n/a
36	chr15:40862047-40862097	HMEC	breast:	n/a
37	chr15:40862047-40862097	T-47D	breast:	n/a
38	chr15:40862047-40862097	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:40862047-40862097	AG09319	gingival:	n/a
40	chr15:40862047-40862097	A549	lung:	n/a
41	chr15:40862047-40862097	HAEpiC	amniotic membrane:	n/a
42	chr15:40862047-40862097	ovcar-3	ovarian:	n/a
43	chr15:40862047-40862097	SK-N-SH	brain:	n/a
44	chr15:40862047-40862097	LNCaP	prostate:	n/a
45	chr15:40862047-40862097	HCF	heart:	n/a
46	chr15:40862047-40862097	Hela-S3	cervix:	n/a
47	chr15:40862047-40862097	Caco-2	colon:	n/a
48	chr15:40862047-40862097	GM12892	blood:	n/a
49	chr15:40862047-40862097	NHBE	bronchial:	n/a
50	chr15:40862047-40862097	HepG2	liver:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40855657..40859262-chr15:40860971..40863634,5	MCF-7	breast:
2	chr15:40860821..40863087-chr15:40987318..40989233,3	K562	blood:

No data

Variant related genes	Relation type
C15orf57	TF binding region
C15orf57	CpG island
ENSG00000128891	Chromatin interaction
ENSG00000051180	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10152546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1044474	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518697	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11070283	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11630273	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11633184	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637245	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11637422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148915	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12324748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12385982	0.90[EUR][1000 genomes]
rs12441754	0.82[EUR][1000 genomes]
rs12592524	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12903817	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12908316	0.88[EUR][1000 genomes]
rs12913296	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913739	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12915171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915636	0.91[EUR][1000 genomes]
rs13329076	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16970758	0.84[YRI][hapmap]
rs17673703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17674454	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs17747423	0.91[EUR][1000 genomes]
rs17747633	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1801321	0.93[CEU][hapmap]
rs1814541	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1814542	0.82[ASN][1000 genomes]
rs2053973	0.90[YRI][hapmap]
rs2412525	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28634695	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28647196	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28669075	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739056	0.81[EUR][1000 genomes]
rs34824658	0.87[EUR][1000 genomes]
rs35127391	0.91[EUR][1000 genomes]
rs35684277	0.85[EUR][1000 genomes]
rs35842610	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4923880	0.89[EUR][1000 genomes]
rs4924486	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4924496	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs62019876	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62019879	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6492964	0.85[CEU][hapmap]
rs71471880	0.85[EUR][1000 genomes]
rs7165509	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7170288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175747	0.84[EUR][1000 genomes]
rs7177265	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7180135	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8029530	0.81[EUR][1000 genomes]
rs8036891	0.81[EUR][1000 genomes]
rs8037180	0.83[EUR][1000 genomes]
rs8038122	0.85[EUR][1000 genomes]
rs8042386	0.83[EUR][1000 genomes]
rs957603	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9920642	0.85[EUR][1000 genomes]
rs9920676	0.91[EUR][1000 genomes]
rs999197	0.83[YRI][hapmap]

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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs1058734	RP11-111A22.1	cis	Artery Aorta	GTEx
rs1058734	C15orf57	cis	Artery Tibial	GTEx
rs1058734	CCDC32	cis	lesional skin	skin_eQTL
rs1058734	C15orf57	cis	Muscle Skeletal	GTEx
rs1058734	C15orf57	cis	Nerve Tibial	GTEx
rs1058734	RP11-111A22.1	cis	Artery Tibial	GTEx
rs1058734	C15orf57	cis	Esophagus Muscularis	GTEx
rs1058734	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs1058734	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs1058734	C15orf57	cis	Heart Left Ventricle	GTEx
rs1058734	C15orf57	cis	Adipose Subcutaneous	GTEx
rs1058734	CCDC32	cis	multi-tissue	Pritchard
rs1058734	RP11-111A22.1	cis	Stomach	GTEx
rs1058734	RAD51	cis	multi-tissue	Pritchard
rs1058734	NA	cis	multi-tissue	Pritchard
rs1058734	RAD51	Cis_1M	lymphoblastoid	RTeQTL
rs1058734	C15orf57	cis	Artery Aorta	GTEx
rs1058734	CCDC32	cis	normal skin	skin_eQTL
rs1058734	C15orf57	cis	lung	GTEx
rs1058734	C15orf57	cis	Stomach	GTEx
rs1058734	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs1058734	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs1058734	C15orf57	cis	Esophagus Mucosa	GTEx
rs1058734	RP11-111A22.1	cis	lung	GTEx
rs1058734	CCDC32	cis	uninvolved skin	skin_eQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40860600-40862200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:40860800-40862200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:40860800-40862200	Active TSS	Colonic Mucosa	Colon
4	chr15:40860800-40862200	Active TSS	Fetal Brain Female	brain
5	chr15:40860800-40862200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:40860800-40862400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr15:40860800-40862400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:40860800-40862600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:40860800-40863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:40861000-40862200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:40861000-40862200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr15:40861000-40862200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:40861000-40862200	Active TSS	Placenta	Placenta
14	chr15:40861000-40862200	Active TSS	Fetal Stomach	stomach
15	chr15:40861000-40862200	Active TSS	Stomach Smooth Muscle	stomach
16	chr15:40861000-40862400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:40861000-40862400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:40861000-40862400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:40861000-40862400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:40861000-40862400	Active TSS	Brain Angular Gyrus	brain
21	chr15:40861000-40862400	Active TSS	Fetal Brain Male	brain
22	chr15:40861000-40862400	Active TSS	Fetal Intestine Small	intestine
23	chr15:40861000-40862400	Active TSS	Fetal Kidney	kidney
24	chr15:40861000-40862400	Active TSS	Rectal Smooth Muscle	rectum
25	chr15:40861000-40862400	Active TSS	Right Ventricle	heart
26	chr15:40861000-40862400	Active TSS	A549	lung
27	chr15:40861000-40862400	Active TSS	HSMMtube	muscle
28	chr15:40861000-40862400	Active TSS	K562	blood
29	chr15:40861000-40862400	Active TSS	NH-A	brain
30	chr15:40861000-40862400	Active TSS	NHLF	lung
31	chr15:40861000-40862600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:40861000-40862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr15:40861000-40862600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr15:40861000-40862600	Active TSS	Psoas Muscle	Psoas
35	chr15:40861000-40862600	Active TSS	NHDF-Ad	bronchial
36	chr15:40861000-40862800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr15:40861000-40862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:40861000-40862800	Active TSS	Right Atrium	heart
39	chr15:40861000-40863000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:40861000-40863000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr15:40861000-40863200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:40861200-40862200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:40861200-40862200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:40861200-40862200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:40861200-40862200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr15:40861200-40862200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:40861200-40862200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr15:40861200-40862200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr15:40861200-40862200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:40861200-40862200	Active TSS	Aorta	Aorta

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