Variant report

Variant	rs112680211
Chromosome Location	chr15:73344761-73344762
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	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	chr15:73344754-73345014	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:73344042-73344971	ProgFib	skin:	n/a	n/a
10	MAZ	chr15:73343818-73345211	HepG2	liver:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
11	POLR2A	chr15:73344754-73344926	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:73343846-73345097	HepG2	liver:	n/a	n/a
13	MXI1	chr15:73342653-73346307	SK-N-SH	brain:	n/a	n/a
14	CHD2	chr15:73343807-73345636	Hela-S3	cervix:	n/a	chr15:73344408-73344418 chr15:73344807-73344817
15	POLR2A	chr15:73344756-73345094	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr15:73344657-73345000	HCT-116	colon:	n/a	n/a
17	POLR2A	chr15:73344644-73344989	HCT-116	colon:	n/a	n/a
18	TEAD4	chr15:73344670-73345035	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	MAX	chr15:73343776-73345609	Hela-S3	cervix:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
21	POLR2A	chr15:73343733-73345193	A549	lung:	n/a	n/a
22	POLR2A	chr15:73343785-73345286	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:73344680-73344830	AG04449	skin:	n/a	chr15:73344712-73344725
24	JUND	chr15:73343804-73344794	A549	lung:	n/a	chr15:73344430-73344444 chr15:73344514-73344523
25	POLR2A	chr15:73343838-73345124	MCF-7	breast:	n/a	n/a
26	ZBTB7A	chr15:73344648-73345047	ECC-1	luminal epithelium:	n/a	n/a
27	SIN3AK20	chr15:73343543-73346163	MCF-7	breast:	n/a	n/a
28	MAZ	chr15:73344067-73345112	K562	blood:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
29	EGR1	chr15:73344061-73344914	MCF-7	breast:	n/a	chr15:73344250-73344263 chr15:73344363-73344376 chr15:73344558-73344572 chr15:73344675-73344688 chr15:73344368-73344378 chr15:73344369-73344382 chr15:73344365-73344387
30	MAX	chr15:73344043-73345057	MCF-7	breast:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
31	POLR2A	chr15:73344006-73345110	HEK293	kidney:	n/a	n/a
32	UBTF	chr15:73344210-73345692	K562	blood:	n/a	n/a
33	PML	chr15:73344734-73345159	MCF-7	breast:	n/a	n/a
34	HDAC2	chr15:73344043-73344919	MCF-7	breast:	n/a	n/a
35	EGR1	chr15:73344419-73344762	ECC-1	luminal epithelium:	n/a	chr15:73344558-73344572 chr15:73344675-73344688
36	POLR2A	chr15:73343841-73345265	MCF-7	breast:	n/a	n/a
37	TCF12	chr15:73344165-73344761	ECC-1	luminal epithelium:	n/a	chr15:73344193-73344200
38	CREB1	chr15:73344081-73344942	HepG2	liver:	n/a	n/a
39	CREB1	chr15:73344743-73345058	A549	lung:	n/a	n/a
40	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
41	POLR2A	chr15:73343773-73345035	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:73344759-73345088	Gliobla	brain:	n/a	n/a
43	MAX	chr15:73343705-73345139	HepG2	liver:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
44	POLR2A	chr15:73343668-73346021	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:73343690-73345894	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:73344756-73345097	A549	lung:	n/a	n/a
47	POLR2A	chr15:73343633-73345959	H1-neurons	neurons:	n/a	n/a
48	MAZ	chr15:73343616-73346019	IMR90	lung:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
49	MAZ	chr15:73343883-73345652	Hela-S3	cervix:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
50	POLR2A	chr15:73343805-73345133	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73344178..73344781-chr9:7799223..7800164,2	HCT-116	colon:
2	chr15:73075212..73078087-chr15:73342810..73345457,4	MCF-7	breast:
3	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
4	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:

Variant related genes	Relation type
NEO1	TF binding region
ENSG00000260898	Chromatin interaction
ENSG00000137038	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000166233	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:125 , 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	chr15:73343400-73345000	Active TSS	Brain Germinal Matrix	brain
12	chr15:73343400-73345400	Active TSS	Duodenum Mucosa	Duodenum
13	chr15:73343400-73345400	Active TSS	Hela-S3	cervix
14	chr15:73343400-73345800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr15:73343400-73346200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:73343400-73346200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:73343400-73346200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:73343400-73346200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:73343400-73346200	Active TSS	Brain Angular Gyrus	brain
20	chr15:73343400-73346200	Active TSS	Psoas Muscle	Psoas
21	chr15:73343400-73346200	Active TSS	Right Ventricle	heart
22	chr15:73343400-73346400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:73343400-73346400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:73343400-73346600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:73343400-73346800	Active TSS	Aorta	Aorta
26	chr15:73343600-73345000	Bivalent/Poised TSS	Thymus	Thymus
27	chr15:73343600-73345400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:73343600-73345400	Active TSS	Placenta	Placenta
29	chr15:73343600-73345400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:73343600-73345600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:73343600-73345600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:73343600-73345600	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr15:73343600-73345600	Active TSS	Esophagus	oesophagus
34	chr15:73343600-73345600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr15:73343600-73345800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:73343600-73345800	Active TSS	Colon Smooth Muscle	Colon
37	chr15:73343600-73345800	Active TSS	Small Intestine	intestine
38	chr15:73343600-73346000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:73343600-73346000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr15:73343600-73346000	Active TSS	Fetal Brain Female	brain
41	chr15:73343600-73346000	Active TSS	Gastric	stomach
42	chr15:73343600-73346000	Active TSS	Left Ventricle	heart
43	chr15:73343600-73346000	Active TSS	Pancreas	Pancrea
44	chr15:73343600-73346000	Active TSS	HSMMtube	muscle
45	chr15:73343600-73346200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:73343600-73346200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr15:73343600-73346200	Active TSS	Rectal Smooth Muscle	rectum
48	chr15:73343600-73346400	Active TSS	Brain Hippocampus Middle	brain
49	chr15:73343600-73346400	Active TSS	Ovary	ovary
50	chr15:73343600-73346400	Active TSS	Stomach Smooth Muscle	stomach

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