Variant report

Variant	rs80338694
Chromosome Location	chr15:43028913-43028914
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	PAX5	chr15:43028531-43029595	GM12892	blood:	n/a	chr15:43029333-43029342
2	MAX	chr15:43028866-43029708	HepG2	liver:	n/a	n/a
3	MAZ	chr15:43028439-43029644	GM12878	blood:	n/a	n/a
4	YY1	chr15:43028894-43029681	HepG2	liver:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
5	MAX	chr15:43028910-43029510	Hela-S3	cervix:	n/a	n/a
6	CHD1	chr15:43028787-43029166	GM12878	blood:	n/a	n/a
7	TAF1	chr15:43028809-43029767	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:43028734-43029771	MCF-7	breast:	n/a	n/a
9	ZBTB7A	chr15:43028605-43028927	K562	blood:	n/a	n/a
10	POLR2A	chr15:43027826-43029760	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:43028801-43029707	H1-neurons	neurons:	n/a	n/a
12	ELF1	chr15:43028752-43029727	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:43028886-43029706	GM18526	blood:	n/a	n/a
14	YY1	chr15:43028849-43029524	GM12878	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
15	YY1	chr15:43028845-43029684	GM12892	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
16	POLR2A	chr15:43028648-43029643	GM12878	blood:	n/a	n/a
17	ZBTB7A	chr15:43028698-43029056	K562	blood:	n/a	n/a
18	YY1	chr15:43028878-43029481	GM12878	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
19	POLR2A	chr15:43028769-43029908	MCF10A-Er-Src	breast:	n/a	n/a
20	MAZ	chr15:43028138-43029884	IMR90	lung:	n/a	n/a
21	POLR2A	chr15:43028832-43029646	K562	blood:	n/a	n/a
22	ZBTB7A	chr15:43028586-43029316	ECC-1	luminal epithelium:	n/a	n/a
23	ETS1	chr15:43028856-43029165	K562	blood:	n/a	n/a
24	POLR2A	chr15:43028732-43030022	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:43028695-43029746	Hela-S3	cervix:	n/a	n/a
26	EBF1	chr15:43028897-43029292	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:43028647-43029720	K562	blood:	n/a	n/a
28	TCF12	chr15:43028854-43029775	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr15:43028889-43029873	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr15:43028511-43030037	K562	blood:	n/a	n/a
31	POLR2A	chr15:43028901-43029676	Hela-S3	cervix:	n/a	n/a
32	SIN3A	chr15:43028346-43029681	H1-hESC	embryonic stem cell:	n/a	chr15:43029073-43029086
33	MAZ	chr15:43028873-43029631	HepG2	liver:	n/a	n/a
34	POLR2A	chr15:43028908-43030078	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr15:43028761-43029809	MCF10A-Er-Src	breast:	n/a	n/a
36	YY1	chr15:43028392-43029668	K562	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
37	POLR2A	chr15:43028551-43029785	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr15:43028582-43029719	Raji	blood:	n/a	n/a
39	SIN3AK20	chr15:43028770-43029702	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr15:43028524-43029818	GM12892	blood:	n/a	n/a
41	POLR2A	chr15:43028069-43029712	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:43028373-43029710	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr15:43028085-43029764	K562	blood:	n/a	n/a
44	POLR2A	chr15:43028558-43029730	NB4	blood:	n/a	n/a
45	MXI1	chr15:43028833-43029751	GM12878	blood:	n/a	n/a
46	HCFC1	chr15:43028462-43030484	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:43028879-43029879	U87	brain:	n/a	n/a
48	POLR2A	chr15:43027862-43029754	PANC-1	pancreas:	n/a	n/a
49	TAF1	chr15:43028876-43029666	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr15:43028871-43029646	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43028764..43029357-chr7:100183650..100184158,2	Hela-S3	cervix:
2	chr15:43014319..43018768-chr15:43027782..43030873,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246283	TF binding region
ENSG00000140326	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers 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	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases
6	esv3410012	chr15:43027685-43030233	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3344912	chr15:43028085-43030633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr15:43028000-43029800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:43028000-43030000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:43028000-43030000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:43028000-43030000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr15:43028200-43029400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr15:43028200-43029400	Active TSS	Fetal Intestine Small	intestine
7	chr15:43028200-43029600	Active TSS	NHLF	lung
8	chr15:43028200-43029800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:43028200-43029800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:43028200-43029800	Active TSS	Left Ventricle	heart
11	chr15:43028200-43029800	Active TSS	Ovary	ovary
12	chr15:43028200-43029800	Active TSS	A549	lung
13	chr15:43028200-43030000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:43028200-43030000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:43028200-43030000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:43028200-43030200	Active TSS	Fetal Kidney	kidney
17	chr15:43028400-43029400	Active TSS	Osteobl	bone
18	chr15:43028400-43029600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:43028400-43029600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:43028400-43029600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:43028400-43029600	Active TSS	Fetal Lung	lung
22	chr15:43028400-43029600	Active TSS	Small Intestine	intestine
23	chr15:43028400-43029600	Active TSS	HSMM	muscle
24	chr15:43028400-43029600	Active TSS	NH-A	brain
25	chr15:43028400-43029600	Active TSS	NHDF-Ad	bronchial
26	chr15:43028400-43029800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:43028400-43029800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:43028400-43029800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:43028400-43029800	Active TSS	Brain Anterior Caudate	brain
30	chr15:43028400-43029800	Active TSS	Fetal Brain Female	brain
31	chr15:43028400-43029800	Active TSS	Gastric	stomach
32	chr15:43028400-43029800	Active TSS	Lung	lung
33	chr15:43028400-43029800	Active TSS	HSMMtube	muscle
34	chr15:43028400-43030000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr15:43028400-43030000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:43028400-43030000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr15:43028400-43030000	Active TSS	Aorta	Aorta
38	chr15:43028400-43030000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr15:43028600-43029000	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr15:43028600-43029400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:43028600-43029400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:43028600-43029400	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:43028600-43029400	Active TSS	Primary B cells from peripheral blood	blood
44	chr15:43028600-43029400	Active TSS	Primary T cells fromperipheralblood	blood
45	chr15:43028600-43029400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:43028600-43029400	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr15:43028600-43029400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:43028600-43029400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:43028600-43029400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:43028600-43029400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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