Variant report

Variant	rs546217205
Chromosome Location	chr15:73344024-73344025
allele	A/C
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	chr15:73343803-73345022	A549	lung:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
2	REST	chr15:73343338-73346187	H1-neurons	neurons:	n/a	chr15:73344978-73344996 chr15:73343999-73344012 chr15:73343713-73343723 chr15:73345747-73345760
3	NRF1	chr15:73343440-73345937	SK-N-SH	brain:	n/a	chr15:73343975-73343984 chr15:73344378-73344387 chr15:73344016-73344025 chr15:73344809-73344818
4	HA-E2F1	chr15:73343803-73345284	Hela-S3	cervix:	n/a	chr15:73344806-73344818 chr15:73344722-73344732 chr15:73344368-73344377 chr15:73344809-73344818 chr15:73345202-73345212 chr15:73344374-73344383 chr15:73343975-73343984 chr15:73344405-73344417
5	POLR2A	chr15:73343899-73345494	Raji	blood:	n/a	n/a
6	SIN3A	chr15:73343608-73345927	H1-hESC	embryonic stem cell:	n/a	chr15:73345747-73345760 chr15:73343999-73344012 chr15:73345342-73345355 chr15:73344977-73344990 chr15:73344056-73344067
7	POLR2A	chr15:73343627-73345984	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr15:73343714-73344061	HepG2	liver:	n/a	n/a
9	MAZ	chr15:73343818-73345211	HepG2	liver:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
10	TAF1	chr15:73343934-73344751	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr15:73343846-73345097	HepG2	liver:	n/a	n/a
12	CTBP2	chr15:73343836-73344538	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr15:73343958-73344610	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr15:73343635-73344636	MCF-7	breast:	n/a	chr15:73344368-73344377 chr15:73344374-73344383 chr15:73343975-73343984 chr15:73344405-73344417
15	POLR2A	chr15:73343527-73344578	MCF10A-Er-Src	breast:	n/a	n/a
16	HDAC2	chr15:73343752-73344131	HepG2	liver:	n/a	n/a
17	MXI1	chr15:73342653-73346307	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr15:73343870-73344612	MCF10A-Er-Src	breast:	n/a	n/a
19	CHD2	chr15:73343807-73345636	Hela-S3	cervix:	n/a	chr15:73344408-73344418 chr15:73344807-73344817
20	EGR1	chr15:73344017-73344808	HCT-116	colon:	n/a	chr15:73344250-73344263 chr15:73344363-73344376 chr15:73344558-73344572 chr15:73344675-73344688 chr15:73344368-73344378 chr15:73344369-73344382 chr15:73344365-73344387
21	REST	chr15:73343641-73344468	A549	lung:	n/a	chr15:73343999-73344012 chr15:73343713-73343723
22	RUNX3	chr15:73344006-73344464	GM12878	blood:	n/a	n/a
23	MAX	chr15:73343776-73345609	Hela-S3	cervix:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
24	POLR2A	chr15:73343832-73344586	HCT-116	colon:	n/a	n/a
25	POLR2A	chr15:73343733-73345193	A549	lung:	n/a	n/a
26	POLR2A	chr15:73343785-73345286	MCF-7	breast:	n/a	n/a
27	ELF1	chr15:73343756-73344596	GM12878	blood:	n/a	n/a
28	JUND	chr15:73343804-73344794	A549	lung:	n/a	chr15:73344430-73344444 chr15:73344514-73344523
29	POLR2A	chr15:73343838-73345124	MCF-7	breast:	n/a	n/a
30	POLR2A	chr15:73343982-73344550	Hela-S3	cervix:	n/a	n/a
31	NR2F2	chr15:73343799-73344606	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr15:73343543-73346163	MCF-7	breast:	n/a	n/a
33	TCF7L2	chr15:73343744-73344484	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:73344006-73345110	HEK293	kidney:	n/a	n/a
35	TAF1	chr15:73344012-73344580	A549	lung:	n/a	n/a
36	MYC	chr15:73344014-73344630	MCF10A-Er-Src	breast:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
37	NFIC	chr15:73343748-73344401	ECC-1	luminal epithelium:	n/a	n/a
38	RAD21	chr15:73343855-73344639	H1-hESC	embryonic stem cell:	n/a	chr15:73344091-73344104
39	SP1	chr15:73343614-73344739	A549	lung:	n/a	chr15:73344673-73344687 chr15:73344364-73344378 chr15:73344674-73344683 chr15:73344368-73344377 chr15:73344672-73344684 chr15:73344367-73344379 chr15:73344508-73344517 chr15:73344367-73344378 chr15:73344504-73344518 chr15:73344367-73344379 chr15:73344507-73344519 chr15:73344358-73344372
40	POLR2A	chr15:73343799-73344635	A549	lung:	n/a	n/a
41	POLR2A	chr15:73343841-73345265	MCF-7	breast:	n/a	n/a
42	YY1	chr15:73344001-73345238	SK-N-SH	brain:	n/a	chr15:73344508-73344519 chr15:73344020-73344034 chr15:73344056-73344067 chr15:73344058-73344072 chr15:73344904-73344918 chr15:73345205-73345216 chr15:73344392-73344403 chr15:73345012-73345024 chr15:73345198-73345212 chr15:73344988-73344999 chr15:73344715-73344729 chr15:73344371-73344380 chr15:73344542-73344553 chr15:73344809-73344818 chr15:73344910-73344921
43	POLR2A	chr15:73343834-73344634	A549	lung:	n/a	n/a
44	POLR2A	chr15:73343773-73345035	Hela-S3	cervix:	n/a	n/a
45	HDAC2	chr15:73343993-73344591	MCF-7	breast:	n/a	n/a
46	MAX	chr15:73343705-73345139	HepG2	liver:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
47	POLR2A	chr15:73343823-73344151	A549	lung:	n/a	n/a
48	TCF12	chr15:73343490-73344721	A549	lung:	n/a	chr15:73344193-73344200 chr15:73343527-73343534
49	POLR2A	chr15:73343668-73346021	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:73343690-73345894	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73343980-73344030	HRPEpiC	eye:	n/a
2	chr15:73343980-73344030	GM12891	blood:	n/a
3	chr15:73343980-73344030	HIPEpiC	eye:	n/a
4	chr15:73343980-73344030	GM06990	blood:	n/a
5	chr15:73343980-73344030	CMK	blood:	n/a
6	chr15:73343980-73344030	U87	brain:	n/a
7	chr15:73343980-73344030	PANC-1	pancreas:	n/a
8	chr15:73343980-73344030	HCPEpiC	choroid plexus:	n/a
9	chr15:73343980-73344030	MCF10A-Er-Src	breast:	n/a
10	chr15:73343980-73344030	PrEC	prostate:	n/a
11	chr15:73343980-73344030	Jurkat	blood:	n/a
12	chr15:73343980-73344030	HRE	kidney:	n/a
13	chr15:73343980-73344030	AoSMC	blood vessel:	n/a
14	chr15:73343980-73344030	Caco-2	colon:	n/a
15	chr15:73343980-73344030	NHDF-neo	bronchial:	n/a
16	chr15:73343980-73344030	GM19239	blood:	n/a
17	chr15:73343980-73344030	HMEC	breast:	n/a
18	chr15:73343980-73344030	K562	blood:	n/a
19	chr15:73343980-73344030	ProgFib	skin:	n/a
20	chr15:73343980-73344030	HCT-116	colon:	n/a
21	chr15:73343980-73344030	SK-N-MC	brain:	n/a
22	chr15:73343980-73344030	HAEpiC	amniotic membrane:	n/a
23	chr15:73343980-73344030	HCM	heart:	n/a
24	chr15:73343980-73344030	RPTEC	kidney:	n/a
25	chr15:73343980-73344030	T-47D	breast:	n/a
26	chr15:73343980-73344030	GM12878	blood:	n/a
27	chr15:73343980-73344030	ECC-1	luminal epithelium:	n/a
28	chr15:73343980-73344030	BE2_C	brain:	n/a
29	chr15:73343980-73344030	SAEC	small airway:	n/a
30	chr15:73343980-73344030	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:73343980-73344030	SK-N-SH_RA	brain:	n/a
32	chr15:73343980-73344030	HEEpiC	esophagus:	n/a
33	chr15:73343980-73344030	SKMC	muscle:	n/a
34	chr15:73343980-73344030	NHBE	bronchial:	n/a
35	chr15:73343980-73344030	AG04449	skin:	fetal
36	chr15:73343980-73344030	H1-hESC	embryonic stem cell:	embryo
37	chr15:73343980-73344030	NB4	blood:	n/a
38	chr15:73343980-73344030	MCF-7	breast:	n/a
39	chr15:73343980-73344030	HCF	heart:	n/a
40	chr15:73343980-73344030	HNPCEpiC	eye:	n/a
41	chr15:73343980-73344030	HUVEC	blood vessel:	n/a
42	chr15:73343980-73344030	Hela-S3	cervix:	n/a
43	chr15:73343980-73344030	NT2-D1	testis:	n/a
44	chr15:73343980-73344030	AG09319	gingival:	n/a
45	chr15:73343980-73344030	HRCEpiC	kidney:	n/a
46	chr15:73343980-73344030	HL-60	blood:	n/a
47	chr15:73343980-73344030	AG09309	skin:	n/a
48	chr15:73343980-73344030	LNCaP	prostate:	n/a
49	chr15:73343980-73344030	IMR90	lung:	fetal
50	chr15:73343980-73344030	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73075212..73078087-chr15:73342810..73345457,4	MCF-7	breast:
2	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
3	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:

Variant related genes	Relation type
NEO1	TF binding region
NEO1	CpG island
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3438792	chr15:73343424-73346772	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3410525	chr15:73343674-73346347	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3323077	chr15:73343899-73345997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr15:73343000-73346000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:73343200-73345800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:73343200-73346000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:73343200-73346000	Active TSS	Brain Anterior Caudate	brain
5	chr15:73343200-73346200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:73343200-73346400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:73343200-73346400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:73343200-73346400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:73343200-73346600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:73343200-73347600	Active TSS	Colonic Mucosa	Colon
11	chr15:73343400-73344200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:73343400-73345000	Active TSS	Brain Germinal Matrix	brain
13	chr15:73343400-73345400	Active TSS	Duodenum Mucosa	Duodenum
14	chr15:73343400-73345400	Active TSS	Hela-S3	cervix
15	chr15:73343400-73345800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr15:73343400-73346200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:73343400-73346200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:73343400-73346200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:73343400-73346200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:73343400-73346200	Active TSS	Brain Angular Gyrus	brain
21	chr15:73343400-73346200	Active TSS	Psoas Muscle	Psoas
22	chr15:73343400-73346200	Active TSS	Right Ventricle	heart
23	chr15:73343400-73346400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:73343400-73346400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:73343400-73346600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:73343400-73346800	Active TSS	Aorta	Aorta
27	chr15:73343600-73344200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:73343600-73344200	Bivalent/Poised TSS	Fetal Thymus	thymus
29	chr15:73343600-73344400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr15:73343600-73344400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:73343600-73344400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr15:73343600-73344600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:73343600-73345000	Bivalent/Poised TSS	Thymus	Thymus
34	chr15:73343600-73345400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:73343600-73345400	Active TSS	Placenta	Placenta
36	chr15:73343600-73345400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr15:73343600-73345600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:73343600-73345600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:73343600-73345600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr15:73343600-73345600	Active TSS	Esophagus	oesophagus
41	chr15:73343600-73345600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr15:73343600-73345800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:73343600-73345800	Active TSS	Colon Smooth Muscle	Colon
44	chr15:73343600-73345800	Active TSS	Small Intestine	intestine
45	chr15:73343600-73346000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:73343600-73346000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:73343600-73346000	Active TSS	Fetal Brain Female	brain
48	chr15:73343600-73346000	Active TSS	Gastric	stomach
49	chr15:73343600-73346000	Active TSS	Left Ventricle	heart
50	chr15:73343600-73346000	Active TSS	Pancreas	Pancrea

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