Variant report

Variant	rs2570800
Chromosome Location	chr15:100105414-100105415
allele	C/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	MAX	chr15:100104636-100107183	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
2	POLR2A	chr15:100104866-100107196	GM18526	blood:	n/a	n/a
3	E2F6	chr15:100105356-100106452	Hela-S3	cervix:	n/a	chr15:100106118-100106127 chr15:100105667-100105677
4	MYC	chr15:100105374-100105694	MCF-7	breast:	n/a	chr15:100105610-100105619 chr15:100105627-100105636
5	POLR2A	chr15:100105256-100106576	Gliobla	brain:	n/a	n/a
6	POLR2A	chr15:100104893-100106445	MCF10A-Er-Src	breast:	n/a	n/a
7	NR2F2	chr15:100105089-100105634	MCF-7	breast:	n/a	n/a
8	ZNF143	chr15:100104943-100106392	Hela-S3	cervix:	n/a	chr15:100105667-100105677
9	POLR2A	chr15:100105043-100107600	IMR90	lung:	n/a	n/a
10	MAZ	chr15:100105134-100107727	IMR90	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
11	MAZ	chr15:100105305-100106721	Hela-S3	cervix:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
12	POLR2A	chr15:100105277-100106387	A549	lung:	n/a	n/a
13	POLR2A	chr15:100105329-100106442	K562	blood:	n/a	n/a
14	EP300	chr15:100105161-100106560	ECC-1	luminal epithelium:	n/a	chr15:100106361-100106370 chr15:100106281-100106297 chr15:100105661-100105677
15	POLR2A	chr15:100104650-100106558	GM12878	blood:	n/a	n/a
16	MAZ	chr15:100105079-100106416	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
17	POLR2A	chr15:100104544-100107315	Raji	blood:	n/a	n/a
18	CEBPB	chr15:100104935-100105553	MCF-7	breast:	n/a	n/a
19	MAZ	chr15:100105357-100106332	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
20	SIN3A	chr15:100104521-100106405	H1-hESC	embryonic stem cell:	n/a	chr15:100106317-100106330
21	STAT5A	chr15:100104508-100105497	GM12878	blood:	n/a	chr15:100104647-100104655
22	POLR2A	chr15:100105235-100106458	A549	lung:	n/a	n/a
23	E2F6	chr15:100105285-100107202	K562	blood:	n/a	chr15:100107161-100107178 chr15:100106118-100106127 chr15:100105667-100105677
24	POLR2A	chr15:100105162-100105545	PANC-1	pancreas:	n/a	n/a
25	MAX	chr15:100105030-100106557	A549	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
26	POLR2A	chr15:100105280-100105923	A549	lung:	n/a	n/a
27	MAX	chr15:100105238-100106531	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
28	POLR2A	chr15:100104580-100106514	GM12878	blood:	n/a	n/a
29	NR2F2	chr15:100104909-100106432	MCF-7	breast:	n/a	n/a
30	SMC3	chr15:100104965-100106386	Hela-S3	cervix:	n/a	chr15:100106253-100106260
31	POLR2A	chr15:100104543-100107408	GM18505	blood:	n/a	n/a
32	JUND	chr15:100105037-100106342	K562	blood:	n/a	n/a
33	MYC	chr15:100105065-100106452	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
34	POLR2A	chr15:100105220-100106482	K562	blood:	n/a	n/a
35	CREB1	chr15:100105091-100106524	HepG2	liver:	n/a	n/a
36	POLR2A	chr15:100105261-100106591	MCF-7	breast:	n/a	n/a
37	POLR2A	chr15:100104827-100107518	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:100104950-100106425	Hela-S3	cervix:	n/a	n/a
39	ESR1	chr15:100105097-100105888	ECC-1	luminal epithelium:	n/a	n/a
40	ZNF263	chr15:100104509-100106309	HEK293-T-REx	kidney:	n/a	chr15:100104647-100104656 chr15:100105461-100105470
41	TAF1	chr15:100105262-100106408	HepG2	liver:	n/a	n/a
42	MAX	chr15:100104831-100106571	A549	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
43	POLR2A	chr15:100105266-100106561	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:100105214-100106499	GM12878	blood:	n/a	n/a
45	RFX5	chr15:100105169-100106374	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:100105146-100106530	HUVEC	blood vessel:	n/a	n/a
47	YY1	chr15:100105229-100106498	HepG2	liver:	n/a	chr15:100106418-100106432 chr15:100106361-100106370 chr15:100106268-100106282
48	POLR2A	chr15:100105256-100107145	NB4	blood:	n/a	n/a
49	TCF12	chr15:100105107-100106563	ECC-1	luminal epithelium:	n/a	chr15:100106290-100106300 chr15:100105388-100105395 chr15:100106289-100106296
50	TCF3	chr15:100105179-100105901	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:100105369-100105419	AoSMC	blood vessel:	n/a
2	chr15:100105369-100105419	PrEC	prostate:	n/a
3	chr15:100105369-100105419	GM12892	blood:	n/a
4	chr15:100105369-100105419	HPAEpiC	pulmonary alveolar:	n/a
5	chr15:100105369-100105419	HNPCEpiC	eye:	n/a
6	chr15:100105369-100105419	T-47D	breast:	n/a
7	chr15:100105369-100105419	CMK	blood:	n/a
8	chr15:100105369-100105419	GM12891	blood:	n/a
9	chr15:100105369-100105419	HL-60	blood:	n/a
10	chr15:100105369-100105419	MCF10A-Er-Src	breast:	n/a
11	chr15:100105369-100105419	GM19239	blood:	n/a
12	chr15:100105369-100105419	HCPEpiC	choroid plexus:	n/a
13	chr15:100105369-100105419	AG10803	skin:	n/a
14	chr15:100105369-100105419	ProgFib	skin:	n/a
15	chr15:100105369-100105419	Caco-2	colon:	n/a
16	chr15:100105369-100105419	SK-N-MC	brain:	n/a
17	chr15:100105369-100105419	U87	brain:	n/a
18	chr15:100105369-100105419	BE2_C	brain:	n/a
19	chr15:100105369-100105419	H1-hESC	embryonic stem cell:	embryo
20	chr15:100105369-100105419	NHBE	bronchial:	n/a
21	chr15:100105369-100105419	Jurkat	blood:	n/a
22	chr15:100105369-100105419	HUVEC	blood vessel:	n/a
23	chr15:100105369-100105419	AG09309	skin:	n/a
24	chr15:100105369-100105419	PANC-1	pancreas:	n/a
25	chr15:100105369-100105419	HCF	heart:	n/a
26	chr15:100105369-100105419	SAEC	small airway:	n/a
27	chr15:100105369-100105419	GM06990	blood:	n/a
28	chr15:100105369-100105419	PFSK-1	brain:	n/a
29	chr15:100105369-100105419	SKMC	muscle:	n/a
30	chr15:100105369-100105419	AG04449	skin:	fetal
31	chr15:100105369-100105419	NHDF-neo	bronchial:	n/a
32	chr15:100105369-100105419	ovcar-3	ovarian:	n/a
33	chr15:100105369-100105419	LNCaP	prostate:	n/a
34	chr15:100105369-100105419	HMEC	breast:	n/a
35	chr15:100105369-100105419	K562	blood:	n/a
36	chr15:100105369-100105419	HepG2	liver:	n/a
37	chr15:100105369-100105419	HCM	heart:	n/a
38	chr15:100105369-100105419	SK-N-SH	brain:	n/a
39	chr15:100105369-100105419	A549	lung:	n/a
40	chr15:100105369-100105419	NT2-D1	testis:	n/a
41	chr15:100105369-100105419	Hepatocyte	liver:	n/a
42	chr15:100105369-100105419	HEK293	kidney:	embryo
43	chr15:100105369-100105419	HRPEpiC	eye:	n/a
44	chr15:100105369-100105419	ECC-1	luminal epithelium:	n/a
45	chr15:100105369-100105419	RPTEC	kidney:	n/a
46	chr15:100105369-100105419	HCT-116	colon:	n/a
47	chr15:100105369-100105419	HRCEpiC	kidney:	n/a
48	chr15:100105369-100105419	HRE	kidney:	n/a
49	chr15:100105369-100105419	HAEpiC	amniotic membrane:	n/a
50	chr15:100105369-100105419	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:100104091..100109623-chr15:100241901..100248412,10	MCF-7	breast:
2	chr15:100105316..100107211-chr15:100246606..100248832,2	MCF-7	breast:
3	chr15:100036529..100040308-chr15:100103797..100106516,3	MCF-7	breast:
4	chr15:99826876..99828722-chr15:100104864..100106375,2	MCF-7	breast:
5	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:
6	chr15:100104819..100107629-chr15:100257615..100260464,2	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
MEF2A	CpG island
ENSG00000214397	Chromatin interaction
ENSG00000269810	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000168904	Chromatin interaction
ENSG00000201724	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1036320	1.00[EUR][1000 genomes]
rs1108205	1.00[EUR][1000 genomes]
rs11247122	1.00[EUR][1000 genomes]
rs2570802	1.00[EUR][1000 genomes]
rs2570803	1.00[EUR][1000 genomes]
rs2570809	1.00[EUR][1000 genomes]
rs2570814	1.00[EUR][1000 genomes]
rs2570820	1.00[EUR][1000 genomes]
rs2570824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570924	1.00[EUR][1000 genomes]
rs2570925	1.00[EUR][1000 genomes]
rs2570926	1.00[EUR][1000 genomes]
rs2570928	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2570931	1.00[EUR][1000 genomes]
rs2570932	1.00[EUR][1000 genomes]
rs2570933	1.00[EUR][1000 genomes]
rs2570935	1.00[EUR][1000 genomes]
rs2570938	1.00[EUR][1000 genomes]
rs2581463	1.00[EUR][1000 genomes]
rs2581473	1.00[EUR][1000 genomes]
rs28661496	1.00[EUR][1000 genomes]
rs28747079	1.00[EUR][1000 genomes]
rs28816423	1.00[EUR][1000 genomes]
rs325385	1.00[EUR][1000 genomes]
rs325388	1.00[EUR][1000 genomes]
rs325399	1.00[EUR][1000 genomes]
rs325401	1.00[EUR][1000 genomes]
rs325407	1.00[EUR][1000 genomes]
rs7163764	1.00[EUR][1000 genomes]
rs7170276	1.00[EUR][1000 genomes]
rs7182926	1.00[EUR][1000 genomes]
rs8027544	1.00[EUR][1000 genomes]
rs8040915	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr15:100103600-100105600	Enhancers	Spleen	Spleen
2	chr15:100104200-100105600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr15:100104600-100105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:100104600-100105600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:100105000-100105600	Enhancers	NHDF-Ad	bronchial
6	chr15:100105000-100106200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr15:100105000-100107000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:100105000-100107200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:100105000-100107400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:100105000-100107600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:100105000-100107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:100105000-100107800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:100105000-100108200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:100105000-100108400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:100105000-100108800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:100105200-100105600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:100105200-100105600	Enhancers	Fetal Heart	heart
18	chr15:100105200-100105600	Flanking Active TSS	HMEC	breast
19	chr15:100105200-100105800	Weak transcription	Fetal Lung	lung
20	chr15:100105200-100107200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:100105200-100107200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:100105200-100107200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr15:100105200-100107200	Bivalent/Poised TSS	HepG2	liver
24	chr15:100105200-100107200	Active TSS	Osteobl	bone
25	chr15:100105200-100107400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:100105200-100107400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:100105200-100107400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:100105200-100107400	Active TSS	Fetal Brain Female	brain
29	chr15:100105200-100107400	Active TSS	Gastric	stomach
30	chr15:100105200-100107600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:100105200-100107600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:100105200-100107600	Active TSS	Brain Angular Gyrus	brain
35	chr15:100105200-100107600	Active TSS	Fetal Kidney	kidney
36	chr15:100105200-100107800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr15:100105200-100107800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:100105200-100107800	Active TSS	Fetal Intestine Large	intestine
39	chr15:100105200-100107800	Active TSS	Ovary	ovary
40	chr15:100105200-100108000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr15:100105200-100108000	Active TSS	HSMM	muscle
42	chr15:100105200-100108200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:100105200-100108200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:100105200-100108200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:100105200-100108200	Active TSS	HSMMtube	muscle
46	chr15:100105200-100108400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr15:100105200-100109400	Active TSS	Right Atrium	heart
48	chr15:100105400-100105800	Active TSS	Primary B cells from cord blood	blood
49	chr15:100105400-100105800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:100105400-100105800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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