Variant report

Variant	rs565205958
Chromosome Location	chr15:100105690-100105691
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	TAF1	chr15:100105576-100106428	A549	lung:	n/a	n/a
2	POLR2A	chr15:100105535-100106581	SK-N-MC	brain:	n/a	n/a
3	HEY1	chr15:100105543-100106452	K562	blood:	n/a	chr15:100106317-100106332 chr15:100106416-100106431 chr15:100105829-100105844
4	FOSL2	chr15:100105674-100106441	A549	lung:	n/a	chr15:100106360-100106369
5	PML	chr15:100105493-100106609	GM12878	blood:	n/a	n/a
6	MAX	chr15:100104636-100107183	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
7	NFYB	chr15:100105430-100105786	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:100104866-100107196	GM18526	blood:	n/a	n/a
9	TAF1	chr15:100105667-100106438	MCF-7	breast:	n/a	n/a
10	E2F6	chr15:100105356-100106452	Hela-S3	cervix:	n/a	chr15:100106118-100106127 chr15:100105667-100105677
11	MYC	chr15:100105374-100105694	MCF-7	breast:	n/a	chr15:100105610-100105619 chr15:100105627-100105636
12	POLR2A	chr15:100105256-100106576	Gliobla	brain:	n/a	n/a
13	POLR2A	chr15:100104893-100106445	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF143	chr15:100104943-100106392	Hela-S3	cervix:	n/a	chr15:100105667-100105677
15	POLR2A	chr15:100105043-100107600	IMR90	lung:	n/a	n/a
16	MAZ	chr15:100105134-100107727	IMR90	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
17	MAZ	chr15:100105305-100106721	Hela-S3	cervix:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
18	POLR2A	chr15:100105277-100106387	A549	lung:	n/a	n/a
19	POLR2A	chr15:100105329-100106442	K562	blood:	n/a	n/a
20	EP300	chr15:100105161-100106560	ECC-1	luminal epithelium:	n/a	chr15:100106361-100106370 chr15:100106281-100106297 chr15:100105661-100105677
21	POLR2A	chr15:100104650-100106558	GM12878	blood:	n/a	n/a
22	MAZ	chr15:100105079-100106416	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
23	POLR2A	chr15:100104544-100107315	Raji	blood:	n/a	n/a
24	MAZ	chr15:100105357-100106332	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
25	SIN3A	chr15:100104521-100106405	H1-hESC	embryonic stem cell:	n/a	chr15:100106317-100106330
26	MEF2C	chr15:100105576-100106509	GM12878	blood:	n/a	chr15:100106164-100106178 chr15:100106159-100106180 chr15:100106166-100106175 chr15:100106159-100106180 chr15:100106165-100106176 chr15:100106164-100106179 chr15:100106166-100106177
27	EGR1	chr15:100105431-100106305	HCT-116	colon:	n/a	chr15:100106190-100106199 chr15:100105909-100105919 chr15:100105904-100105926 chr15:100105909-100105922 chr15:100106118-100106127
28	POLR2A	chr15:100105235-100106458	A549	lung:	n/a	n/a
29	STAT5A	chr15:100105649-100106423	GM12878	blood:	n/a	n/a
30	MEF2A	chr15:100105574-100106500	GM12878	blood:	n/a	chr15:100106164-100106178 chr15:100106159-100106180 chr15:100106166-100106175 chr15:100106159-100106180 chr15:100106165-100106176 chr15:100106164-100106179 chr15:100106166-100106177
31	E2F6	chr15:100105285-100107202	K562	blood:	n/a	chr15:100107161-100107178 chr15:100106118-100106127 chr15:100105667-100105677
32	MAX	chr15:100105030-100106557	A549	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
33	PBX3	chr15:100105612-100106487	A549	lung:	n/a	n/a
34	POLR2A	chr15:100105280-100105923	A549	lung:	n/a	n/a
35	MAX	chr15:100105238-100106531	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
36	BACH1	chr15:100105686-100106353	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:100104580-100106514	GM12878	blood:	n/a	n/a
38	STAT1	chr15:100105644-100106313	GM12878	blood:	n/a	n/a
39	NR2F2	chr15:100104909-100106432	MCF-7	breast:	n/a	n/a
40	REST	chr15:100105520-100105765	SK-N-SH	brain:	n/a	chr15:100105666-100105676 chr15:100105676-100105689 chr15:100105648-100105658
41	SMC3	chr15:100104965-100106386	Hela-S3	cervix:	n/a	chr15:100106253-100106260
42	POLR2A	chr15:100104543-100107408	GM18505	blood:	n/a	n/a
43	JUND	chr15:100105037-100106342	K562	blood:	n/a	n/a
44	TAF1	chr15:100105656-100106321	H1-neurons	neurons:	n/a	n/a
45	MYC	chr15:100105065-100106452	K562	blood:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
46	POLR2A	chr15:100105220-100106482	K562	blood:	n/a	n/a
47	USF1	chr15:100105444-100106334	ECC-1	luminal epithelium:	n/a	chr15:100106231-100106247 chr15:100106283-100106299
48	CREB1	chr15:100105091-100106524	HepG2	liver:	n/a	n/a
49	NFIC	chr15:100105575-100106399	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr15:100105261-100106591	MCF-7	breast:	n/a	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	chr15:100105492..100106141-chr6:88299353..88300156,2	NB4	blood:
6	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:
7	chr15:100105670..100107207-chr15:100272767..100275061,2	MCF-7	breast:
8	chr15:100104819..100107629-chr15:100257615..100260464,2	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000201724	Chromatin interaction
ENSG00000214397	Chromatin interaction
ENSG00000269810	Chromatin interaction
ENSG00000146282	Chromatin interaction
ENSG00000183060	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000135336	Chromatin interaction
ENSG00000168904	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv3438354	chr15:100105454-100108002	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr15:100105000-100106200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr15:100105000-100107000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:100105000-100107200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr15:100105000-100107400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:100105000-100107600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:100105000-100107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:100105000-100107800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:100105000-100108200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:100105000-100108400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:100105000-100108800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:100105200-100105800	Weak transcription	Fetal Lung	lung
12	chr15:100105200-100107200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:100105200-100107200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:100105200-100107200	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr15:100105200-100107200	Bivalent/Poised TSS	HepG2	liver
16	chr15:100105200-100107200	Active TSS	Osteobl	bone
17	chr15:100105200-100107400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:100105200-100107400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:100105200-100107400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr15:100105200-100107400	Active TSS	Fetal Brain Female	brain
21	chr15:100105200-100107400	Active TSS	Gastric	stomach
22	chr15:100105200-100107600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:100105200-100107600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:100105200-100107600	Active TSS	Brain Angular Gyrus	brain
27	chr15:100105200-100107600	Active TSS	Fetal Kidney	kidney
28	chr15:100105200-100107800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr15:100105200-100107800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:100105200-100107800	Active TSS	Fetal Intestine Large	intestine
31	chr15:100105200-100107800	Active TSS	Ovary	ovary
32	chr15:100105200-100108000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr15:100105200-100108000	Active TSS	HSMM	muscle
34	chr15:100105200-100108200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr15:100105200-100108200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:100105200-100108200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:100105200-100108200	Active TSS	HSMMtube	muscle
38	chr15:100105200-100108400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:100105200-100109400	Active TSS	Right Atrium	heart
40	chr15:100105400-100105800	Active TSS	Primary B cells from cord blood	blood
41	chr15:100105400-100105800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:100105400-100105800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr15:100105400-100105800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:100105400-100105800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:100105400-100105800	Active TSS	Brain Germinal Matrix	brain
46	chr15:100105400-100105800	Weak transcription	Fetal Brain Male	brain
47	chr15:100105400-100106800	Active TSS	Primary T cells fromperipheralblood	blood
48	chr15:100105400-100106800	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:100105400-100106800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:100105400-100107000	Active TSS	Primary neutrophils fromperipheralblood	blood

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