Variant report

Variant	rs144262608
Chromosome Location	chr2:54683182-54683183
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	RAD21	chr2:54683017-54683368	HepG2	liver:	n/a	n/a
2	TAF1	chr2:54682875-54683351	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:54683049-54683310	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr2:54682987-54684835	ECC-1	luminal epithelium:	n/a	chr2:54683663-54683671 chr2:54684493-54684507 chr2:54684498-54684507
5	MYBL2	chr2:54681501-54683343	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:54682918-54684551	A549	lung:	n/a	n/a
7	POLR2A	chr2:54683015-54683615	A549	lung:	n/a	n/a
8	TAF1	chr2:54682934-54683755	A549	lung:	n/a	n/a
9	ZBTB7A	chr2:54682908-54684675	ECC-1	luminal epithelium:	n/a	chr2:54683663-54683671 chr2:54684493-54684507 chr2:54684498-54684507
10	MAX	chr2:54683073-54683517	A549	lung:	n/a	n/a
11	MAX	chr2:54682882-54683689	A549	lung:	n/a	chr2:54682934-54682942
12	CREB1	chr2:54682979-54684118	A549	lung:	n/a	n/a
13	POLR2A	chr2:54682588-54683692	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:54682189-54685375	H1-neurons	neurons:	n/a	n/a
15	FOSL2	chr2:54682753-54683271	A549	lung:	n/a	chr2:54682849-54682858
16	POLR2A	chr2:54682948-54684151	IMR90	lung:	n/a	n/a
17	POLR2A	chr2:54682763-54683744	U87	brain:	n/a	n/a
18	MYBL2	chr2:54681631-54683715	HepG2	liver:	n/a	n/a
19	E2F4	chr2:54683153-54683191	MCF10A-Er-Src	breast:	n/a	n/a
20	MXI1	chr2:54682730-54686241	IMR90	lung:	n/a	n/a
21	HEY1	chr2:54681566-54683738	HepG2	liver:	n/a	chr2:54683583-54683598 chr2:54683492-54683507
22	EP300	chr2:54682900-54683593	HepG2	liver:	n/a	chr2:54683504-54683520
23	EP300	chr2:54682806-54683685	SK-N-SH_RA	brain:	n/a	chr2:54683630-54683639 chr2:54683504-54683520
24	TEAD4	chr2:54683015-54683636	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr2:54682837-54683787	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:54682165-54683785	H1-hESC	embryonic stem cell:	n/a	n/a
27	HA-E2F1	chr2:54682786-54683304	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:54682986-54683347	A549	lung:	n/a	n/a
29	ARID3A	chr2:54682853-54683244	HepG2	liver:	n/a	n/a
30	TAF1	chr2:54683003-54683650	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr2:54683003-54683719	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:54682919-54683353	HepG2	liver:	n/a	n/a
33	CEBPD	chr2:54682962-54683723	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr2:54683013-54683310	HepG2	liver:	n/a	n/a
35	SP1	chr2:54682897-54683565	A549	lung:	n/a	chr2:54683072-54683081 chr2:54683543-54683557 chr2:54683072-54683082 chr2:54683073-54683082 chr2:54683071-54683083 chr2:54683071-54683083 chr2:54683072-54683081
36	TCF7L2	chr2:54682950-54684979	HCT-116	colon:	n/a	n/a
37	YY1	chr2:54682886-54684411	HepG2	liver:	n/a	chr2:54684224-54684238 chr2:54683188-54683199 chr2:54684135-54684144 chr2:54684136-54684147 chr2:54683992-54684006 chr2:54683718-54683727 chr2:54684122-54684133
38	TCF12	chr2:54682609-54683757	A549	lung:	n/a	n/a
39	POLR2A	chr2:54682862-54683729	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr2:54683000-54683364	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr2:54681650-54683349	HepG2	liver:	n/a	n/a
42	RAD21	chr2:54682823-54683310	SK-N-SH_RA	brain:	n/a	n/a
43	ZNF263	chr2:54682800-54685302	HEK293-T-REx	kidney:	n/a	chr2:54683982-54683991 chr2:54683734-54683743 chr2:54683611-54683620
44	RFX5	chr2:54682895-54683642	HepG2	liver:	n/a	chr2:54683433-54683448
45	TAF1	chr2:54682956-54683612	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:54682763-54683750	U87	brain:	n/a	n/a
47	CTBP2	chr2:54682379-54685140	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr2:54682873-54684758	Gliobla	brain:	n/a	n/a
49	MBD4	chr2:54682085-54683332	HepG2	liver:	n/a	n/a
50	SP1	chr2:54682882-54683686	A549	lung:	n/a	chr2:54683072-54683081 chr2:54683543-54683557 chr2:54683072-54683082 chr2:54683073-54683082 chr2:54683071-54683083 chr2:54683071-54683083 chr2:54683072-54683081

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:

Variant related genes	Relation type
SPTBN1	TF binding region
ENSG00000170634	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	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3403234	chr2:54681448-54686246	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3407657	chr2:54682273-54685021	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3392501	chr2:54682473-54685646	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54681800-54683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:54682000-54685000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:54682000-54685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:54682000-54685400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:54682000-54685600	Active TSS	Brain Substantia Nigra	brain
6	chr2:54682000-54686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:54682200-54683200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:54682200-54683200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr2:54682200-54683200	Flanking Active TSS	Liver	Liver
10	chr2:54682200-54683200	Bivalent/Poised TSS	HepG2	liver
11	chr2:54682200-54685000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:54682200-54685200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:54682200-54685400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:54682200-54685400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:54682200-54685600	Active TSS	Fetal Kidney	kidney
16	chr2:54682200-54685800	Active TSS	Brain Germinal Matrix	brain
17	chr2:54682200-54686000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:54682200-54686200	Active TSS	Left Ventricle	heart
19	chr2:54682200-54686200	Active TSS	NHDF-Ad	bronchial
20	chr2:54682200-54686400	Active TSS	Aorta	Aorta
21	chr2:54682200-54687000	Active TSS	Ovary	ovary
22	chr2:54682200-54687000	Active TSS	Psoas Muscle	Psoas
23	chr2:54682200-54687600	Active TSS	Right Atrium	heart
24	chr2:54682400-54683200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr2:54682400-54683200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr2:54682400-54683200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:54682400-54683200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr2:54682400-54683200	Active TSS	Fetal Heart	heart
29	chr2:54682400-54683200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr2:54682400-54683200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr2:54682400-54683200	Flanking Active TSS	HMEC	breast
32	chr2:54682400-54684800	Active TSS	Gastric	stomach
33	chr2:54682400-54685000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:54682400-54685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:54682400-54685600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:54682400-54685600	Active TSS	Brain Angular Gyrus	brain
37	chr2:54682400-54685800	Active TSS	Esophagus	oesophagus
38	chr2:54682600-54683200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr2:54682600-54683200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr2:54682600-54683200	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr2:54682600-54684400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:54682600-54685000	Active TSS	Fetal Brain Female	brain
43	chr2:54682600-54685200	Active TSS	Hela-S3	cervix
44	chr2:54682600-54685400	Active TSS	Brain Cingulate Gyrus	brain
45	chr2:54682600-54685400	Active TSS	Colon Smooth Muscle	Colon
46	chr2:54682600-54685600	Active TSS	Brain Anterior Caudate	brain
47	chr2:54682600-54685600	Active TSS	Fetal Lung	lung
48	chr2:54682600-54685800	Active TSS	Brain Hippocampus Middle	brain
49	chr2:54682600-54685800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:54682600-54686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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