Variant report

Variant	rs4886677
Chromosome Location	chr15:75495456-75495457
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	ELF1	chr15:75492615-75496148	GM12878	blood:	n/a	chr15:75494140-75494152 chr15:75495499-75495512 chr15:75494019-75494031 chr15:75493189-75493202 chr15:75495186-75495195 chr15:75495209-75495220 chr15:75494372-75494384 chr15:75493163-75493175 chr15:75493191-75493202 chr15:75495210-75495219
2	POLR2A	chr15:75494714-75495520	HUVEC	blood vessel:	n/a	n/a
3	ELF1	chr15:75495399-75495661	K562	blood:	n/a	chr15:75495499-75495512
4	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
5	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
6	CTCF	chr15:75495320-75495470	HBMEC	blood vessel:	n/a	n/a
7	MAX	chr15:75493804-75495477	SK-N-SH	brain:	n/a	chr15:75494093-75494102
8	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
9	CEBPB	chr15:75495013-75495830	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr15:75494269-75495762	ECC-1	luminal epithelium:	n/a	chr15:75494779-75494788 chr15:75494464-75494471
11	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
12	POLR2A	chr15:75493877-75495478	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr15:75494970-75495517	K562	blood:	n/a	n/a
14	E2F6	chr15:75493862-75495763	K562	blood:	n/a	chr15:75494554-75494564 chr15:75494289-75494301 chr15:75494372-75494382 chr15:75495234-75495244 chr15:75494420-75494429
15	POLR2A	chr15:75494754-75495830	K562	blood:	n/a	n/a
16	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
17	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:75494193-75497747	GM12891	blood:	n/a	n/a
19	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
20	EP300	chr15:75492823-75495560	ECC-1	luminal epithelium:	n/a	chr15:75493187-75493201 chr15:75494420-75494429 chr15:75494529-75494545 chr15:75495184-75495193 chr15:75494447-75494456 chr15:75494478-75494494 chr15:75495183-75495192 chr15:75492831-75492840 chr15:75494803-75494812 chr15:75493191-75493200 chr15:75494063-75494079 chr15:75494226-75494242
21	TBL1XR1	chr15:75494232-75495511	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:75493886-75496356	HUVEC	blood vessel:	n/a	n/a
23	STAT5A	chr15:75492643-75496896	GM12878	blood:	n/a	chr15:75496563-75496577 chr15:75496565-75496574 chr15:75495565-75495576 chr15:75493377-75493389 chr15:75496566-75496575 chr15:75493549-75493557 chr15:75496045-75496057 chr15:75493256-75493270
24	MXI1	chr15:75493278-75495807	GM12878	blood:	n/a	chr15:75493370-75493379
25	POU2F2	chr15:75493073-75495954	GM12878	blood:	n/a	chr15:75493166-75493178 chr15:75495907-75495919
26	POLR2A	chr15:75493787-75495912	GM12891	blood:	n/a	n/a
27	ELF1	chr15:75493680-75495606	MCF-7	breast:	n/a	chr15:75494140-75494152 chr15:75495499-75495512 chr15:75494019-75494031 chr15:75495186-75495195 chr15:75495209-75495220 chr15:75494372-75494384 chr15:75495210-75495219
28	TCF12	chr15:75493008-75496156	A549	lung:	n/a	chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
29	POLR2A	chr15:75494186-75495799	GM12891	blood:	n/a	n/a
30	POLR2A	chr15:75493371-75495560	PBDE	blood:	n/a	n/a
31	PAX5	chr15:75494818-75495498	GM12878	blood:	n/a	n/a
32	CTCF	chr15:75493174-75496126	A549	lung:	n/a	chr15:75495837-75495855 chr15:75495839-75495852 chr15:75495188-75495201
33	POLR2A	chr15:75493831-75496771	GM12878	blood:	n/a	n/a
34	ELK1	chr15:75494701-75495523	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr15:75493073-75496869	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr15:75492891-75495553	ECC-1	luminal epithelium:	n/a	chr15:75492906-75492916 chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
37	E2F6	chr15:75494726-75495473	K562	blood:	n/a	chr15:75495234-75495244
38	MAX	chr15:75493502-75495491	ECC-1	luminal epithelium:	n/a	chr15:75494093-75494102
39	ATF2	chr15:75494890-75496514	GM12878	blood:	n/a	n/a
40	SMC3	chr15:75492813-75495936	Hela-S3	cervix:	n/a	chr15:75494800-75494810
41	RELA	chr15:75494898-75495461	GM18951	blood:	n/a	n/a
42	USF2	chr15:75494371-75495494	GM12878	blood:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75494729-75494740 chr15:75495184-75495200
43	ELK4	chr15:75494912-75495491	Hela-S3	cervix:	n/a	chr15:75495210-75495221
44	MAX	chr15:75492971-75495582	HepG2	liver:	n/a	chr15:75494093-75494102
45	BHLHE40	chr15:75493784-75495777	K562	blood:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75495184-75495200
46	MXI1	chr15:75493546-75496316	SK-N-SH	brain:	n/a	n/a
47	MAX	chr15:75493722-75495734	A549	lung:	n/a	chr15:75494093-75494102
48	MAZ	chr15:75492986-75495484	Hela-S3	cervix:	n/a	chr15:75494093-75494102
49	POLR2A	chr15:75493008-75495954	HL-60	blood:	n/a	n/a
50	POLR2A	chr15:75493786-75495494	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75493870..75496515-chr15:75627756..75630428,2	K562	blood:
3	chr15:75494917..75495761-chr3:135969152..135969971,2	Hela-S3	cervix:
4	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
5	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
6	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
7	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:
8	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
9	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
10	chr15:75249199..75251809-chr15:75494359..75496397,2	K562	blood:
11	chr15:75334817..75335758-chr15:75495189..75496264,3	MCF-7	breast:
12	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
13	chr15:75485312..75486049-chr15:75494876..75495553,2	K562	blood:
14	chr15:75345292..75348855-chr15:75495155..75497587,4	K562	blood:
15	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
16	chr15:75411616..75414340-chr15:75494203..75495704,2	MCF-7	breast:
17	chr15:75366296..75367875-chr15:75495021..75496744,2	MCF-7	breast:
18	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
19	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000240366	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000252722	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000140365	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11072532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11072533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11072534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11072536	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11636245	0.84[CHB][hapmap]
rs11853027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12591506	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12592411	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs12708517	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12904018	0.89[ASN][1000 genomes]
rs1532155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006683	0.83[ASN][1000 genomes]
rs28448636	1.00[EUR][1000 genomes]
rs28528682	1.00[EUR][1000 genomes]
rs3743210	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3743211	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4886430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886431	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs60708820	1.00[EUR][1000 genomes]
rs61484131	1.00[EUR][1000 genomes]
rs61697761	1.00[EUR][1000 genomes]
rs73437081	1.00[EUR][1000 genomes]
rs73437086	1.00[EUR][1000 genomes]
rs73443239	1.00[EUR][1000 genomes]
rs73443246	1.00[EUR][1000 genomes]
rs7403344	0.94[ASN][1000 genomes]
rs8025431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8039284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8042147	1.00[EUR][1000 genomes]
rs8043432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs902482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs953555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3422174	chr15:75492924-75495772	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
8	nsv904384	chr15:75493823-75520378	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:75493600-75496000	Active TSS	Aorta	Aorta
5	chr15:75493600-75496000	Active TSS	Lung	lung
6	chr15:75493600-75496000	Active TSS	Small Intestine	intestine
7	chr15:75493600-75496200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:75493600-75496400	Active TSS	Ovary	ovary
9	chr15:75493600-75496600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:75493600-75496600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:75493800-75495600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:75493800-75495600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:75493800-75495600	Active TSS	Rectal Smooth Muscle	rectum
14	chr15:75493800-75495600	Active TSS	Right Atrium	heart
15	chr15:75493800-75495600	Active TSS	NHDF-Ad	bronchial
16	chr15:75493800-75495800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:75493800-75495800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:75493800-75495800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:75493800-75495800	Active TSS	Gastric	stomach
20	chr15:75493800-75496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:75493800-75496000	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr15:75493800-75496200	Bivalent/Poised TSS	HepG2	liver
23	chr15:75493800-75496400	Active TSS	Psoas Muscle	Psoas
24	chr15:75494000-75495600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:75494000-75495600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:75494000-75495600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:75494000-75495600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:75494000-75495600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:75494000-75495600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:75494000-75495600	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr15:75494000-75495600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:75494000-75495600	Active TSS	Esophagus	oesophagus
33	chr15:75494000-75495600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr15:75494000-75495600	Active TSS	Fetal Intestine Large	intestine
35	chr15:75494000-75495600	Active TSS	Fetal Intestine Small	intestine
36	chr15:75494000-75495600	Active TSS	Fetal Kidney	kidney
37	chr15:75494000-75495600	Active TSS	Fetal Lung	lung
38	chr15:75494000-75495600	Active TSS	Placenta	Placenta
39	chr15:75494000-75495600	Active TSS	Fetal Stomach	stomach
40	chr15:75494000-75495600	Active TSS	Pancreas	Pancrea
41	chr15:75494000-75495600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr15:75494000-75495600	Active TSS	Hela-S3	cervix
43	chr15:75494000-75495600	Active TSS	HMEC	breast
44	chr15:75494000-75495600	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:75494000-75495800	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr15:75494000-75495800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:75494000-75495800	Active TSS	Brain Substantia Nigra	brain
48	chr15:75494000-75495800	Active TSS	Colon Smooth Muscle	Colon
49	chr15:75494000-75495800	Active TSS	A549	lung
50	chr15:75494000-75496000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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