Variant report

Variant	rs28455137
Chromosome Location	chr15:93352747-93352748
allele	C/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	BRCA1	chr15:93352299-93353097	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:93351750-93353395	HUVEC	blood vessel:	n/a	n/a
3	TCF3	chr15:93352434-93352956	GM12878	blood:	n/a	n/a
4	CHD1	chr15:93351983-93354384	GM12878	blood:	n/a	n/a
5	TAF1	chr15:93352270-93353103	GM12891	blood:	n/a	n/a
6	SMC3	chr15:93352077-93352760	K562	blood:	n/a	chr15:93352491-93352505 chr15:93352405-93352412 chr15:93352495-93352505
7	TCF3	chr15:93352277-93352965	GM12878	blood:	n/a	n/a
8	NFIC	chr15:93352029-93353667	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:93352162-93353599	GM12891	blood:	n/a	n/a
10	GTF2F1	chr15:93352292-93353528	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr15:93352141-93353455	SK-N-SH	brain:	n/a	chr15:93352491-93352505 chr15:93352405-93352412 chr15:93352495-93352505
12	SP1	chr15:93352251-93352884	K562	blood:	n/a	chr15:93352638-93352647 chr15:93352638-93352647 chr15:93352450-93352464 chr15:93352371-93352383 chr15:93352372-93352382 chr15:93352636-93352648 chr15:93352637-93352646 chr15:93352373-93352382 chr15:93352371-93352383 chr15:93352637-93352647 chr15:93352372-93352381 chr15:93352633-93352646 chr15:93352636-93352648 chr15:93352637-93352647 chr15:93352761-93352770
13	EGR1	chr15:93352251-93352886	K562	blood:	n/a	chr15:93352339-93352352
14	MYC	chr15:93351603-93353394	MCF10A-Er-Src	breast:	n/a	chr15:93352584-93352595 chr15:93351863-93351873 chr15:93352585-93352595 chr15:93352583-93352596 chr15:93352584-93352595 chr15:93352585-93352595 chr15:93352583-93352596 chr15:93352584-93352595 chr15:93352372-93352382 chr15:93352585-93352594
15	POLR2A	chr15:93352066-93354295	GM12892	blood:	n/a	n/a
16	POU2F2	chr15:93352272-93353054	GM12891	blood:	n/a	chr15:93352975-93352997 chr15:93352631-93352643
17	STAT3	chr15:93352019-93353675	MCF10A-Er-Src	breast:	n/a	n/a
18	USF2	chr15:93352346-93352960	H1-hESC	embryonic stem cell:	n/a	chr15:93352584-93352595 chr15:93352629-93352645
19	CBX3	chr15:93352138-93353196	K562	blood:	n/a	n/a
20	TEAD4	chr15:93352160-93352980	ECC-1	luminal epithelium:	n/a	n/a
21	ETS1	chr15:93352268-93352832	A549	lung:	n/a	chr15:93352545-93352554 chr15:93352545-93352554 chr15:93352538-93352554 chr15:93352545-93352554 chr15:93352635-93352646 chr15:93352542-93352555 chr15:93352546-93352556 chr15:93352541-93352557 chr15:93352545-93352554
22	E2F6	chr15:93351202-93353522	A549	lung:	n/a	chr15:93352774-93352785 chr15:93352637-93352646 chr15:93353061-93353068 chr15:93353060-93353069 chr15:93353061-93353068 chr15:93353149-93353161 chr15:93353061-93353068
23	REST	chr15:93351900-93353816	A549	lung:	n/a	chr15:93353207-93353227 chr15:93352479-93352492 chr15:93352638-93352651 chr15:93352475-93352495 chr15:93353569-93353578 chr15:93351930-93351943 chr15:93353269-93353278 chr15:93352479-93352492
24	MAFK	chr15:93352286-93353429	K562	blood:	n/a	n/a
25	NFYB	chr15:93352415-93352783	GM12878	blood:	n/a	n/a
26	BCLAF1	chr15:93352109-93352961	K562	blood:	n/a	chr15:93352545-93352554 chr15:93352831-93352840
27	TEAD4	chr15:93352049-93353019	SK-N-SH	brain:	n/a	n/a
28	IRF1	chr15:93352157-93352973	K562	blood:	n/a	chr15:93352453-93352467 chr15:93352636-93352650 chr15:93352369-93352383
29	POLR2A	chr15:93351304-93354288	GM18505	blood:	n/a	n/a
30	ELF1	chr15:93352221-93353067	A549	lung:	n/a	chr15:93352544-93352553 chr15:93352568-93352577
31	POLR2A	chr15:93352093-93354275	IMR90	lung:	n/a	n/a
32	MYC	chr15:93352298-93352862	Hela-S3	cervix:	n/a	chr15:93352584-93352595 chr15:93352585-93352595 chr15:93352583-93352596 chr15:93352584-93352595 chr15:93352585-93352595 chr15:93352583-93352596 chr15:93352584-93352595 chr15:93352372-93352382 chr15:93352585-93352594
33	ATF2	chr15:93352228-93353438	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr15:93352597-93353514	H1-hESC	embryonic stem cell:	n/a	chr15:93353207-93353227 chr15:93352638-93352651 chr15:93353269-93353278
35	ELF1	chr15:93352016-93353024	K562	blood:	n/a	chr15:93352544-93352553 chr15:93352568-93352577
36	PBX3	chr15:93352210-93352861	SK-N-SH	brain:	n/a	n/a
37	RXRA	chr15:93352321-93352862	GM12878	blood:	n/a	chr15:93352807-93352814 chr15:93352489-93352509
38	RAD21	chr15:93352042-93352948	HCT-116	colon:	n/a	chr15:93352493-93352506 chr15:93352490-93352509 chr15:93352495-93352505 chr15:93352620-93352629 chr15:93352495-93352507 chr15:93352628-93352642
39	YY1	chr15:93352133-93353228	ECC-1	luminal epithelium:	n/a	chr15:93352628-93352639 chr15:93352637-93352646 chr15:93352615-93352634 chr15:93352621-93352629 chr15:93352442-93352452 chr15:93352499-93352510 chr15:93352623-93352631 chr15:93352610-93352632 chr15:93352622-93352632
40	POLR2A	chr15:93350784-93355718	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr15:93352061-93353156	K562	blood:	n/a	chr15:93352774-93352785 chr15:93352637-93352646 chr15:93353061-93353068 chr15:93353060-93353069 chr15:93353061-93353068 chr15:93353061-93353068
42	POLR2A	chr15:93351778-93353076	MCF-7	breast:	n/a	n/a
43	E2F6	chr15:93351896-93353453	H1-hESC	embryonic stem cell:	n/a	chr15:93352774-93352785 chr15:93352637-93352646 chr15:93353061-93353068 chr15:93353060-93353069 chr15:93353061-93353068 chr15:93353149-93353161 chr15:93353061-93353068
44	TBL1XR1	chr15:93352186-93352872	K562	blood:	n/a	n/a
45	EP300	chr15:93352057-93353275	ECC-1	luminal epithelium:	n/a	chr15:93352546-93352553 chr15:93352628-93352644
46	ZC3H11A	chr15:93352086-93353361	K562	blood:	n/a	n/a
47	SP1	chr15:93352412-93352853	GM12878	blood:	n/a	chr15:93352638-93352647 chr15:93352638-93352647 chr15:93352450-93352464 chr15:93352636-93352648 chr15:93352637-93352646 chr15:93352637-93352647 chr15:93352633-93352646 chr15:93352636-93352648 chr15:93352637-93352647 chr15:93352761-93352770
48	JUND	chr15:93352291-93352870	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr15:93352275-93352981	H1-hESC	embryonic stem cell:	n/a	chr15:93352339-93352352
50	POLR2A	chr15:93351876-93354337	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:75385528..75386369-chr15:93352736..93353635,2	Hela-S3	cervix:
2	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
3	chr1:155057860..155058542-chr15:93352502..93353219,2	Hela-S3	cervix:
4	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
5	chr15:93352594..93353187-chr16:2732008..2732819,2	Hela-S3	cervix:
6	chr1:155177852..155178553-chr15:93352736..93353691,2	Hela-S3	cervix:
7	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
8	chr15:93352208..93354404-chr15:93425621..93426740,6	MCF-7	breast:
9	chr12:48099462..48100154-chr15:93352403..93353100,2	Hela-S3	cervix:
10	chr15:93352658..93353196-chr6:13574785..13575714,3	Hela-S3	cervix:
11	chr15:93351934..93352899-chr15:93460819..93461743,4	MCF-7	breast:
12	chr15:93352696..93353348-chr19:13261192..13261780,2	Hela-S3	cervix:
13	chr15:93352026..93352933-chr15:93460903..93461819,3	MCF-7	breast:
14	chr15:93352480..93353377-chr7:150783290..150783836,2	Hela-S3	cervix:
15	chr15:93352163..93352951-chr15:93443005..93443668,2	Hela-S3	cervix:
16	chr15:93352414..93352967-chr15:93446932..93447797,2	MCF-7	breast:
17	chr15:93352604..93353121-chr15:93427828..93428651,2	Hela-S3	cervix:
18	chr15:93352108..93352936-chr15:93425171..93425678,2	K562	blood:
19	chr15:93352634..93353153-chr15:93426164..93426733,2	Hela-S3	cervix:
20	chr15:93352399..93352914-chr15:93441040..93441869,2	MCF-7	breast:
21	chr15:93352002..93352975-chr15:93460874..93461822,6	K562	blood:
22	chr15:93352049..93354053-chr15:93513074..93515760,2	MCF-7	breast:
23	chr15:93352624..93353396-chr5:43483790..43484492,2	Hela-S3	cervix:
24	chr15:93337242..93342192-chr15:93350779..93355697,6	MCF-7	breast:
25	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
26	chr15:93352456..93353356-chr15:93428226..93429092,2	MCF-7	breast:
27	chr15:93352455..93353234-chr21:35013511..35014309,2	Hela-S3	cervix:
28	chr15:93352642..93353348-chr2:153575144..153575777,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000258922	TF binding region
ENSG00000143590	Chromatin interaction
ENSG00000258527	Chromatin interaction
ENSG00000264173	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000166348	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000104915	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000177917	Chromatin interaction
ENSG00000167977	Chromatin interaction
ENSG00000205758	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000160888	Chromatin interaction
ENSG00000268584	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12101581	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12101782	0.87[AMR][1000 genomes]
rs12102230	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28549279	0.82[EUR][1000 genomes]
rs28602250	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv1042292	chr15:93286333-93374887	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv984199	chr15:93288362-93381522	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 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	chr15:93350800-93355600	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr15:93351000-93353400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr15:93351000-93353600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr15:93351000-93355000	Active TSS	Psoas Muscle	Psoas
5	chr15:93351200-93353200	Active TSS	Esophagus	oesophagus
6	chr15:93351200-93353400	Active TSS	Colon Smooth Muscle	Colon
7	chr15:93351200-93353400	Active TSS	Lung	lung
8	chr15:93351200-93354400	Active TSS	Brain Angular Gyrus	brain
9	chr15:93351200-93354400	Active TSS	Colonic Mucosa	Colon
10	chr15:93351200-93355000	Active TSS	Right Ventricle	heart
11	chr15:93351400-93353200	Active TSS	Fetal Kidney	kidney
12	chr15:93351400-93354800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:93351400-93355200	Active TSS	Aorta	Aorta
14	chr15:93351600-93352800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:93351600-93352800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:93351600-93352800	Active TSS	Placenta	Placenta
17	chr15:93351600-93352800	Active TSS	Rectal Smooth Muscle	rectum
18	chr15:93351600-93353000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:93351600-93353000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:93351600-93353000	Active TSS	A549	lung
21	chr15:93351600-93353000	Active TSS	Hela-S3	cervix
22	chr15:93351600-93353200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:93351600-93353200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:93351600-93353200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:93351600-93353200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:93351600-93353200	Active TSS	Stomach Mucosa	stomach
27	chr15:93351600-93353400	Active TSS	Duodenum Mucosa	Duodenum
28	chr15:93351600-93353600	Active TSS	Liver	Liver
29	chr15:93351600-93353600	Active TSS	Thymus	Thymus
30	chr15:93351600-93353800	Active TSS	Brain Anterior Caudate	brain
31	chr15:93351600-93354000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:93351600-93354200	Active TSS	Brain Substantia Nigra	brain
33	chr15:93351600-93355400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:93351600-93355800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr15:93351600-93356000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:93351800-93352800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr15:93351800-93352800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:93351800-93352800	Active TSS	Fetal Lung	lung
39	chr15:93351800-93352800	Active TSS	Fetal Thymus	thymus
40	chr15:93351800-93352800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr15:93351800-93352800	Active TSS	Dnd41	blood
42	chr15:93351800-93352800	Active TSS	K562	blood
43	chr15:93351800-93352800	Active TSS	Osteobl	bone
44	chr15:93351800-93353000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:93351800-93353000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr15:93351800-93353000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:93351800-93353000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr15:93351800-93353000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr15:93351800-93353000	Active TSS	Primary B cells from peripheral blood	blood
50	chr15:93351800-93353000	Active TSS	Primary T cells from cord blood	blood

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