Variant report

Variant	rs543549332
Chromosome Location	chr2:112895881-112895882
allele	A/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	POLR2A	chr2:112895812-112895946	HUVEC	blood vessel:	n/a	n/a
2	RCOR1	chr2:112895325-112895974	HepG2	liver:	n/a	n/a
3	MAX	chr2:112895066-112896120	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:112895785-112896084	Gliobla	brain:	n/a	n/a
5	TEAD4	chr2:112895494-112896093	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr2:112895629-112896477	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr2:112895711-112896047	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF263	chr2:112895311-112896013	HEK293-T-REx	kidney:	n/a	chr2:112895681-112895690 chr2:112895948-112895957
9	POLR2A	chr2:112895719-112896388	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:112894979-112896527	HepG2	liver:	n/a	n/a
11	TEAD4	chr2:112895694-112896066	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr2:112895398-112896171	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr2:112895721-112896077	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr2:112895661-112896090	A549	lung:	n/a	n/a
15	POLR2A	chr2:112895543-112896771	ECC-1	luminal epithelium:	n/a	n/a
16	SIN3A	chr2:112895448-112896414	H1-hESC	embryonic stem cell:	n/a	n/a
17	HDAC2	chr2:112895313-112896148	HepG2	liver:	n/a	n/a
18	RFX5	chr2:112895298-112895952	HepG2	liver:	n/a	n/a
19	TAF1	chr2:112895837-112896042	SK-N-SH	brain:	n/a	n/a
20	HEY1	chr2:112895030-112896104	HepG2	liver:	n/a	chr2:112895843-112895858
21	ZBTB7A	chr2:112895649-112896097	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr2:112895624-112896486	HepG2	liver:	n/a	chr2:112895933-112895947 chr2:112895968-112895982 chr2:112896149-112896160
23	BRCA1	chr2:112895663-112895915	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:112895028-112896050	HepG2	liver:	n/a	n/a
25	MAX	chr2:112895816-112896095	SK-N-SH	brain:	n/a	n/a
26	MAX	chr2:112895775-112896458	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:112895173-112896052	HepG2	liver:	n/a	n/a
28	BACH1	chr2:112895514-112896107	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr2:112895839-112896039	HepG2	liver:	n/a	chr2:112895987-112895997
30	POLR2A	chr2:112894942-112895889	HepG2	liver:	n/a	n/a
31	MAX	chr2:112895702-112896238	A549	lung:	n/a	n/a
32	MAX	chr2:112895608-112896250	A549	lung:	n/a	n/a
33	MAZ	chr2:112895022-112896393	HepG2	liver:	n/a	n/a
34	USF2	chr2:112895347-112895891	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr2:112894967-112896526	HepG2	liver:	n/a	n/a
36	E2F6	chr2:112895759-112896103	A549	lung:	n/a	n/a
37	HA-E2F1	chr2:112895057-112897038	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:112895768-112896884	HepG2	liver:	n/a	n/a
39	MAX	chr2:112895800-112896222	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
FBLN7	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv14942	chr2:112895791-112898036	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112895000-112896000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:112895000-112896000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:112895000-112896000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr2:112895000-112896000	Flanking Bivalent TSS/Enh	NHEK	skin
5	chr2:112895200-112896000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
6	chr2:112895200-112896000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:112895200-112896000	Flanking Active TSS	Liver	Liver
8	chr2:112895200-112896000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
9	chr2:112895200-112896000	Flanking Active TSS	HUVEC	blood vessel
10	chr2:112895200-112896600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr2:112895200-112897000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:112895200-112898200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:112895400-112896000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr2:112895400-112896000	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
20	chr2:112895400-112896000	Flanking Active TSS	Right Ventricle	heart
21	chr2:112895400-112896000	Flanking Active TSS	Spleen	Spleen
22	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr2:112895400-112896000	Flanking Bivalent TSS/Enh	NH-A	brain
24	chr2:112895400-112896400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:112895400-112896400	Active TSS	Aorta	Aorta
26	chr2:112895400-112896400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:112895400-112896600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:112895400-112896600	Active TSS	Brain Anterior Caudate	brain
29	chr2:112895400-112896600	Active TSS	Right Atrium	heart
30	chr2:112895400-112896600	Active TSS	HSMM	muscle
31	chr2:112895400-112897000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:112895400-112898600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:112895400-112898600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:112895600-112896000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr2:112895600-112896000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:112895600-112896000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr2:112895600-112896000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
38	chr2:112895600-112896000	Flanking Active TSS	Lung	lung
39	chr2:112895600-112896000	Flanking Active TSS	HMEC	breast
40	chr2:112895600-112896400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr2:112895600-112896400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:112895600-112896400	Active TSS	Fetal Kidney	kidney
43	chr2:112895600-112896400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr2:112895600-112896400	Bivalent/Poised TSS	HSMMtube	muscle
45	chr2:112895600-112896600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:112895600-112896600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:112895600-112896600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:112895600-112896800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:112895600-112896800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:112895600-112896800	Active TSS	Psoas Muscle	Psoas

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