Variant report

Variant	rs7169010
Chromosome Location	chr15:41047024-41047025
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	SIN3AK20	chr15:41046505-41048006	MCF-7	breast:	n/a	n/a
2	TCF12	chr15:41046959-41047995	ECC-1	luminal epithelium:	n/a	n/a
3	CREB1	chr15:41046994-41047867	K562	blood:	n/a	chr15:41047449-41047462
4	SIN3AK20	chr15:41046723-41047926	PANC-1	pancreas:	n/a	n/a
5	YY1	chr15:41046663-41047089	K562	blood:	n/a	n/a
6	MYC	chr15:41046947-41048267	K562	blood:	n/a	n/a
7	HMGN3	chr15:41046789-41048006	K562	blood:	n/a	n/a
8	POLR2A	chr15:41047007-41048049	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:41046986-41048010	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr15:41046261-41047993	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:41046760-41048392	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr15:41046761-41047807	HepG2	liver:	n/a	n/a
13	MAX	chr15:41046975-41047988	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:41047024-41048059	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr15:41046954-41048545	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr15:41046774-41047948	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:41046742-41047970	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr15:41046975-41048039	K562	blood:	n/a	chr15:41047449-41047462
19	YY1	chr15:41046652-41047920	ECC-1	luminal epithelium:	n/a	chr15:41047464-41047478 chr15:41047342-41047353 chr15:41047419-41047433 chr15:41047342-41047351 chr15:41047558-41047567
20	ETS1	chr15:41046817-41047750	K562	blood:	n/a	chr15:41047265-41047278
21	POLR2A	chr15:41046862-41048489	K562	blood:	n/a	n/a
22	ZBTB7A	chr15:41046998-41047784	ECC-1	luminal epithelium:	n/a	chr15:41047523-41047530
23	YY1	chr15:41046619-41047818	HepG2	liver:	n/a	chr15:41047464-41047478 chr15:41047342-41047353 chr15:41047419-41047433 chr15:41047342-41047351 chr15:41047558-41047567
24	HCFC1	chr15:41046444-41048439	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:41046804-41047976	ECC-1	luminal epithelium:	n/a	n/a
26	UBTF	chr15:41046633-41047050	K562	blood:	n/a	n/a
27	YY1	chr15:41046606-41047051	GM12892	blood:	n/a	n/a
28	SMARCB1	chr15:41046690-41048285	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:41046788-41047929	IMR90	lung:	n/a	n/a
30	MXI1	chr15:41046522-41048503	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr15:41047024-41048005	GM12892	blood:	n/a	n/a
32	SIN3A	chr15:41046664-41047875	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr15:41047000-41047995	GM12878	blood:	n/a	chr15:41047449-41047462
34	MTA3	chr15:41047021-41048139	GM12878	blood:	n/a	n/a
35	CREB1	chr15:41046647-41048001	HepG2	liver:	n/a	chr15:41047449-41047462
36	POLR2A	chr15:41047016-41048508	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr15:41046635-41047085	K562	blood:	n/a	n/a
38	REST	chr15:41046900-41047957	H1-neurons	neurons:	n/a	chr15:41047465-41047478
39	CREB1	chr15:41047007-41047997	GM12878	blood:	n/a	chr15:41047449-41047462
40	MAX	chr15:41046601-41047965	K562	blood:	n/a	n/a
41	PML	chr15:41047005-41048040	GM12878	blood:	n/a	n/a
42	YY1	chr15:41046708-41047805	K562	blood:	n/a	chr15:41047464-41047478 chr15:41047342-41047353 chr15:41047419-41047433 chr15:41047342-41047351 chr15:41047558-41047567
43	POLR2A	chr15:41046831-41048441	Raji	blood:	n/a	n/a
44	POLR2A	chr15:41046997-41048081	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr15:41046624-41047984	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41045818..41047338-chr15:41134388..41137195,2	MCF-7	breast:
2	chr15:41044630..41047663-chr15:41185217..41189065,4	K562	blood:
3	chr15:41046423..41049572-chr15:41185616..41187810,3	MCF-7	breast:
4	chr15:41046641..41048842-chr15:41243931..41246219,2	K562	blood:
5	chr15:40986013..40988355-chr15:41045826..41048654,2	MCF-7	breast:
6	chr15:40984748..40987218-chr15:41046649..41049070,3	K562	blood:
7	chr15:41045448..41048031-chr15:41068434..41070678,2	MCF-7	breast:
8	chr15:41045671..41048162-chr15:41135920..41137784,2	MCF-7	breast:
9	chr15:41042059..41049706-chr15:41053861..41061949,15	MCF-7	breast:
10	chr15:40731340..40734041-chr15:41045866..41047695,2	K562	blood:
11	chr15:41045813..41047463-chr15:41099042..41101691,3	K562	blood:
12	chr15:40987359..40990886-chr15:41044779..41048321,5	K562	blood:
13	chr15:41045748..41048901-chr15:41096709..41101394,9	K562	blood:
14	chr15:41036885..41040237-chr15:41045392..41049336,5	MCF-7	breast:
15	chr15:41045121..41047501-chr15:41186359..41188842,2	K562	blood:
16	chr15:41045965..41048868-chr15:41482776..41485356,2	K562	blood:
17	chr15:40984748..40990654-chr15:41044779..41050104,8	K562	blood:
18	chr15:41035271..41040468-chr15:41046040..41049485,6	MCF-7	breast:
19	chr15:41045896..41050408-chr15:41066208..41069896,5	MCF-7	breast:
20	chr15:40985310..40988262-chr15:41045857..41048554,2	MCF-7	breast:
21	chr15:41030963..41032960-chr15:41046925..41048677,2	K562	blood:
22	chr15:40855952..40857673-chr15:41046204..41048687,2	K562	blood:

Variant related genes	Relation type
RMDN3	TF binding region
ENSG00000261183	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000240847	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10775121	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070291	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070293	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11631563	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633269	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11852786	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11855560	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11858337	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11858338	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12372947	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12439683	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12441514	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12442845	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12908284	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12912742	0.86[ASN][1000 genomes]
rs2263551	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2304582	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2412546	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412547	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412548	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412549	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2577564	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2619679	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2619680	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2619683	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2917955	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2928140	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3092982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3092983	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3101861	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34400306	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36106105	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45495293	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4923884	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924493	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4924495	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924501	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924503	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56042757	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6492961	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7164339	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7167854	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7172195	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7173646	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7174551	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175401	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs752012	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025883	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8033829	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8036817	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7169010	C15orf57	cis	Artery Tibial	GTEx
rs7169010	CCDC32	cis	multi-tissue	Pritchard
rs7169010	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs7169010	C15orf57	cis	lung	GTEx
rs7169010	C15orf57	cis	Stomach	GTEx
rs7169010	RP11-111A22.1	cis	lung	GTEx
rs7169010	C15orf57	cis	Adipose Subcutaneous	GTEx
rs7169010	C15orf57	cis	Nerve Tibial	GTEx
rs7169010	C15orf57	cis	Esophagus Muscularis	GTEx
rs7169010	C15orf57	cis	Artery Aorta	GTEx
rs7169010	RP11-111A22.1	cis	Artery Tibial	GTEx
rs7169010	RAD51	cis	multi-tissue	Pritchard
rs7169010	RAD51	Cis_1M	lymphoblastoid	RTeQTL
rs7169010	CCDC32	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41046000-41047200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:41046000-41047800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:41046000-41047800	Active TSS	GM12878-XiMat	blood
4	chr15:41046200-41047200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr15:41046200-41047200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:41046200-41047200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:41046200-41047600	Active TSS	K562	blood
8	chr15:41046200-41047800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:41046200-41047800	Active TSS	HSMM	muscle
10	chr15:41046200-41048000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:41046200-41048000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:41046200-41048200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:41046200-41048200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:41046200-41048200	Active TSS	Primary T cells from cord blood	blood
15	chr15:41046200-41048200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr15:41046200-41048200	Active TSS	NHLF	lung
17	chr15:41046400-41047200	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr15:41046400-41047600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:41046400-41047600	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr15:41046400-41047800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:41046400-41047800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:41046400-41047800	Active TSS	Fetal Intestine Large	intestine
23	chr15:41046400-41048000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:41046400-41048000	Active TSS	Colonic Mucosa	Colon
25	chr15:41046400-41048000	Active TSS	Rectal Smooth Muscle	rectum
26	chr15:41046400-41048000	Active TSS	Right Ventricle	heart
27	chr15:41046400-41048200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:41046400-41048200	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr15:41046400-41048200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:41046400-41048200	Active TSS	A549	lung
31	chr15:41046600-41047200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr15:41046600-41047200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:41046600-41047400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:41046600-41047600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:41046600-41047600	Active TSS	NH-A	brain
36	chr15:41046600-41047800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:41046600-41047800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:41046600-41047800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:41046600-41047800	Active TSS	Gastric	stomach
40	chr15:41046600-41047800	Bivalent/Poised TSS	HepG2	liver
41	chr15:41046600-41047800	Active TSS	NHEK	skin
42	chr15:41046600-41048000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:41046600-41048000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr15:41046600-41048000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:41046600-41048000	Active TSS	Aorta	Aorta
46	chr15:41046600-41048000	Active TSS	Colon Smooth Muscle	Colon
47	chr15:41046600-41048000	Active TSS	Ovary	ovary
48	chr15:41046600-41048000	Active TSS	Psoas Muscle	Psoas
49	chr15:41046600-41048000	Active TSS	Right Atrium	heart
50	chr15:41046600-41048000	Active TSS	Sigmoid Colon	Sigmoid Colon

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