Variant report

Variant	rs2303576
Chromosome Location	chr15:44829408-44829409
allele	G/T
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	POLR2A	chr15:44828559-44829562	HepG2	liver:	n/a	n/a
2	CHD2	chr15:44829332-44829520	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:44828630-44829790	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr15:44828583-44829532	PFSK-1	brain:	n/a	n/a
5	CEBPB	chr15:44828125-44829549	Hela-S3	cervix:	n/a	n/a
6	MAX	chr15:44829123-44830267	K562	blood:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
7	TAF7	chr15:44829248-44829456	K562	blood:	n/a	n/a
8	USF2	chr15:44829226-44829408	GM12878	blood:	n/a	chr15:44829233-44829249
9	FOSL2	chr15:44829161-44829545	HepG2	liver:	n/a	chr15:44829321-44829332 chr15:44829324-44829333
10	POLR2A	chr15:44828228-44830231	GM19193	blood:	n/a	n/a
11	TEAD4	chr15:44829164-44829528	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:44829152-44829652	HepG2	liver:	n/a	n/a
13	MAX	chr15:44828246-44830328	NB4	blood:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
14	MAX	chr15:44828346-44830188	SK-N-SH	brain:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
15	HEY1	chr15:44828119-44830513	K562	blood:	n/a	chr15:44829649-44829664 chr15:44829633-44829648
16	POLR2A	chr15:44829164-44829864	GM12891	blood:	n/a	n/a
17	POLR2A	chr15:44829186-44830108	GM12891	blood:	n/a	n/a
18	REST	chr15:44829178-44829759	PFSK-1	brain:	n/a	chr15:44829187-44829200
19	TAF1	chr15:44829169-44829693	K562	blood:	n/a	n/a
20	MAX	chr15:44828282-44830278	HCT-116	colon:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
21	POLR2A	chr15:44827952-44830503	K562	blood:	n/a	n/a
22	E2F6	chr15:44828432-44830192	A549	lung:	n/a	chr15:44829201-44829213 chr15:44829232-44829242 chr15:44829705-44829715
23	POLR2A	chr15:44828206-44830355	HepG2	liver:	n/a	n/a
24	SIX5	chr15:44829188-44829430	GM12878	blood:	n/a	n/a
25	JUND	chr15:44829105-44829500	HepG2	liver:	n/a	chr15:44829322-44829333 chr15:44829324-44829333
26	SIN3AK20	chr15:44829138-44829453	PFSK-1	brain:	n/a	n/a
27	TBP	chr15:44828603-44830374	K562	blood:	n/a	n/a
28	YY1	chr15:44829202-44829584	A549	lung:	n/a	chr15:44829234-44829243 chr15:44829382-44829402 chr15:44829231-44829242 chr15:44829231-44829240
29	TBP	chr15:44828690-44829508	HepG2	liver:	n/a	n/a
30	TEAD4	chr15:44829167-44829486	K562	blood:	n/a	n/a
31	PML	chr15:44829221-44829466	GM12878	blood:	n/a	n/a
32	FOS	chr15:44828611-44829955	HUVEC	blood vessel:	n/a	chr15:44829322-44829333 chr15:44829324-44829333
33	MYC	chr15:44828485-44830455	MCF10A-Er-Src	breast:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
34	HEY1	chr15:44828145-44829653	HepG2	liver:	n/a	chr15:44829633-44829648
35	SP2	chr15:44829138-44829527	HepG2	liver:	n/a	n/a
36	TAF1	chr15:44829178-44829581	GM12892	blood:	n/a	n/a
37	MAZ	chr15:44828193-44830453	IMR90	lung:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
38	POLR2A	chr15:44828237-44829669	U87	brain:	n/a	n/a
39	CREB1	chr15:44828566-44829978	HepG2	liver:	n/a	n/a
40	TAF1	chr15:44828463-44829637	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr15:44828796-44829513	K562	blood:	n/a	n/a
42	ZNF143	chr15:44828724-44829871	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr15:44829125-44830026	K562	blood:	n/a	chr15:44829201-44829213 chr15:44829232-44829242 chr15:44829705-44829715
44	POLR2A	chr15:44828281-44829870	K562	blood:	n/a	n/a
45	POLR2A	chr15:44828550-44830045	GM12878	blood:	n/a	n/a
46	TCF7L2	chr15:44828682-44829675	HCT-116	colon:	n/a	chr15:44829323-44829332 chr15:44829324-44829333
47	POLR2A	chr15:44828486-44829721	ECC-1	luminal epithelium:	n/a	n/a
48	ELF1	chr15:44829144-44830046	GM12878	blood:	n/a	chr15:44829700-44829709 chr15:44829231-44829240 chr15:44829234-44829243 chr15:44829653-44829662
49	MYC	chr15:44829156-44830010	K562	blood:	n/a	chr15:44829900-44829909 chr15:44829901-44829911 chr15:44829903-44829910
50	MYBL2	chr15:44829150-44829538	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44562480..44565823-chr15:44827596..44830231,3	K562	blood:
2	chr12:53714872..53715417-chr15:44828828..44829538,2	Hela-S3	cervix:
3	chr15:44589545..44591390-chr15:44828180..44830193,2	K562	blood:
4	chr15:44580146..44582349-chr15:44827451..44829460,2	MCF-7	breast:
5	chr15:44828768..44829449-chr15:72523060..72523767,2	Hela-S3	cervix:
6	chr15:44828640..44829478-chr15:59225791..59226422,2	Hela-S3	cervix:
7	chr15:44829105..44829826-chr19:39897222..39898083,2	Hela-S3	cervix:
8	chr1:33282965..33283792-chr15:44828603..44829430,2	Hela-S3	cervix:
9	chr1:209957410..209957938-chr15:44828799..44829767,2	Hela-S3	cervix:
10	chr15:44828615..44829474-chr16:74734365..74734926,2	Hela-S3	cervix:
11	chr15:44828989..44830828-chr15:44845349..44847067,2	MCF-7	breast:
12	chr15:44828954..44829737-chr15:65588306..65589220,2	Hela-S3	cervix:
13	chr15:44718440..44720700-chr15:44829136..44830677,2	K562	blood:
14	chr15:44828679..44830776-chr15:44954210..44955982,2	K562	blood:
15	chr15:44562480..44564339-chr15:44827596..44829843,2	K562	blood:
16	chr15:44828830..44831440-chr15:44847499..44850264,2	MCF-7	breast:
17	chr15:44829326..44830046-chr9:132514775..132515396,2	Hela-S3	cervix:
18	chr15:44809581..44812209-chr15:44829187..44830726,2	K562	blood:
19	chr15:44829011..44830774-chr15:44841931..44844429,2	MCF-7	breast:
20	chr15:44829035..44829839-chr16:87425686..87426461,2	HCT-116	colon:
21	chr15:44829267..44829770-chr3:122134616..122135139,2	Hela-S3	cervix:
22	chr12:120729268..120729881-chr15:44828939..44829617,2	Hela-S3	cervix:
23	chr15:44828896..44829631-chrX:153626751..153627511,2	HCT-116	colon:
24	chr1:40505478..40506070-chr15:44829064..44829685,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPG11-1	chr15:44829333-44829659	NONHSAT042162

Variant related genes	Relation type
EIF3J-AS1	TF binding region
ENSG00000259659	Chromatin interaction
ENSG00000162757	Chromatin interaction
ENSG00000148344	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000094914	Chromatin interaction
ENSG00000116497	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000259595	Chromatin interaction
ENSG00000137770	Chromatin interaction
ENSG00000203578	Chromatin interaction
ENSG00000203575	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000196981	Chromatin interaction
ENSG00000134684	Chromatin interaction
ENSG00000272758	Chromatin interaction
ENSG00000140941	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000166734	Chromatin interaction
ENSG00000103264	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000259563	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2412908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3752690	0.82[AMR][1000 genomes]
rs4283209	0.82[AMR][1000 genomes]
rs57400480	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57618952	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60337896	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60683533	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 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	chr15:44827600-44830200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr15:44827600-44830400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:44827600-44830600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:44827600-44830600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:44827600-44831000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:44827800-44829800	Active TSS	Brain Cingulate Gyrus	brain
7	chr15:44827800-44830000	Active TSS	Brain Anterior Caudate	brain
8	chr15:44827800-44830200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:44827800-44830200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:44827800-44830200	Active TSS	Fetal Intestine Small	intestine
11	chr15:44827800-44830400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:44827800-44830600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:44827800-44830600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:44827800-44830800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:44827800-44830800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr15:44827800-44830800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:44827800-44830800	Active TSS	HSMM	muscle
18	chr15:44827800-44830800	Active TSS	NHDF-Ad	bronchial
19	chr15:44827800-44831000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44828000-44829600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:44828000-44830000	Active TSS	Brain Angular Gyrus	brain
22	chr15:44828000-44830200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:44828000-44830200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:44828000-44830200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:44828000-44830200	Active TSS	Colon Smooth Muscle	Colon
26	chr15:44828000-44830200	Active TSS	Fetal Intestine Large	intestine
27	chr15:44828000-44830200	Active TSS	Fetal Kidney	kidney
28	chr15:44828000-44830400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:44828000-44830400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:44828000-44830400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:44828000-44830400	Active TSS	Esophagus	oesophagus
32	chr15:44828000-44830400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr15:44828000-44830400	Active TSS	Gastric	stomach
34	chr15:44828000-44830400	Active TSS	Ovary	ovary
35	chr15:44828000-44830400	Active TSS	Stomach Mucosa	stomach
36	chr15:44828000-44830600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr15:44828000-44830600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:44828000-44830600	Active TSS	Right Atrium	heart
39	chr15:44828000-44830600	Active TSS	A549	lung
40	chr15:44828000-44831000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:44828000-44831000	Active TSS	Psoas Muscle	Psoas
42	chr15:44828000-44831200	Active TSS	HSMMtube	muscle
43	chr15:44828200-44830200	Active TSS	Brain Hippocampus Middle	brain
44	chr15:44828200-44830200	Active TSS	Fetal Stomach	stomach
45	chr15:44828200-44830200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr15:44828200-44830200	Active TSS	Small Intestine	intestine
47	chr15:44828200-44830200	Active TSS	Thymus	Thymus
48	chr15:44828200-44830400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:44828200-44830400	Active TSS	Aorta	Aorta
50	chr15:44828200-44830400	Active TSS	Left Ventricle	heart

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