Variant report

Variant	nsv822430
Chromosome Location	chr4:1209835-1210293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr4:1209884-1210032	GM12878	blood:	n/a	n/a
2	CTCF	chr4:1210187-1210189	GM19239	blood:	n/a	n/a
3	CTCF	chr4:1210196-1210250	GM19239	blood:	n/a	n/a
4	ELF1	chr4:1208687-1211263	GM12878	blood:	n/a	n/a
5	EP300	chr4:1208922-1209837	GM12878	blood:	n/a	chr4:1209068-1209084
6	MTA3	chr4:1208835-1211238	GM12878	blood:	n/a	n/a
7	NFATC1	chr4:1209169-1209897	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1209706-1209991	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:1209568-1210379	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:1209951-1209957	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:1209599-1210782	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:1208933-1209846	GM12892	blood:	n/a	n/a
13	POLR2A	chr4:1210119-1210227	MCF-7	breast:	n/a	n/a
14	POLR2A	chr4:1209810-1209908	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:1209574-1211350	HL-60	blood:	n/a	n/a
16	POLR2A	chr4:1209492-1209908	K562	blood:	n/a	n/a
17	POLR2A	chr4:1210066-1210085	K562	blood:	n/a	n/a
18	POLR2A	chr4:1210061-1210187	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:1210134-1210294	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:1210138-1210230	MCF-7	breast:	n/a	n/a
21	POLR2A	chr4:1209548-1211003	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:1208946-1209930	GM18505	blood:	n/a	n/a
23	POLR2A	chr4:1208835-1211179	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:1209772-1210000	MCF-7	breast:	n/a	n/a
25	POLR2A	chr4:1209869-1209889	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:1210237-1210241	MCF-7	breast:	n/a	n/a
27	POLR2A	chr4:1209933-1210945	GM12892	blood:	n/a	n/a
28	POLR2A	chr4:1209534-1210709	K562	blood:	n/a	n/a
29	POLR2A	chr4:1210096-1210372	K562	blood:	n/a	n/a
30	POLR2A	chr4:1208736-1211035	GM12892	blood:	n/a	n/a
31	RUNX3	chr4:1208870-1209923	GM12878	blood:	n/a	n/a
32	RUNX3	chr4:1208852-1210386	GM12878	blood:	n/a	n/a
33	STAT5A	chr4:1208133-1210564	GM12878	blood:	n/a	chr4:1208594-1208606 chr4:1208965-1208977 chr4:1208374-1208386 chr4:1210396-1210420
34	TCF12	chr4:1209060-1209872	GM12878	blood:	n/a	n/a
35	TCF12	chr4:1209109-1209870	GM12878	blood:	n/a	n/a
36	TCF3	chr4:1208859-1210344	GM12878	blood:	n/a	n/a
37	ZEB1	chr4:1209107-1209882	GM12878	blood:	n/a	chr4:1209683-1209694

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1209844-1209894	HCT-116	colon:	n/a
2	chr4:1209971-1210021	HIPEpiC	eye:	n/a
3	chr4:1209844-1209894	PANC-1	pancreas:	n/a
4	chr4:1209971-1210021	T-47D	breast:	n/a
5	chr4:1210066-1210116	AG10803	skin:	n/a
6	chr4:1210066-1210116	MCF10A-Er-Src	breast:	n/a
7	chr4:1210066-1210116	K562	blood:	n/a
8	chr4:1209844-1209894	AG04449	skin:	fetal
9	chr4:1210066-1210116	GM12892	blood:	n/a
10	chr4:1209971-1210021	SK-N-MC	brain:	n/a
11	chr4:1209971-1210021	ovcar-3	ovarian:	n/a
12	chr4:1209971-1210021	ECC-1	luminal epithelium:	n/a
13	chr4:1209971-1210021	PrEC	prostate:	n/a
14	chr4:1209971-1210021	HCF	heart:	n/a
15	chr4:1210066-1210116	HMEC	breast:	n/a
16	chr4:1209971-1210021	AG04450	lung:	fetal
17	chr4:1209971-1210021	CMK	blood:	n/a
18	chr4:1209844-1209894	HEK293	kidney:	embryo
19	chr4:1209971-1210021	PFSK-1	brain:	n/a
20	chr4:1210066-1210116	SAEC	small airway:	n/a
21	chr4:1209844-1209894	Jurkat	blood:	n/a
22	chr4:1209844-1209894	AG04450	lung:	fetal
23	chr4:1210066-1210116	NHBE	bronchial:	n/a
24	chr4:1209971-1210021	SAEC	small airway:	n/a
25	chr4:1209971-1210021	HNPCEpiC	eye:	n/a
26	chr4:1209844-1209894	MCF10A-Er-Src	breast:	n/a
27	chr4:1209971-1210021	NH-A	brain:	n/a
28	chr4:1210066-1210116	SK-N-MC	brain:	n/a
29	chr4:1210066-1210116	HRPEpiC	eye:	n/a
30	chr4:1209844-1209894	GM06990	blood:	n/a
31	chr4:1209971-1210021	Hepatocyte	liver:	n/a
32	chr4:1209844-1209894	HNPCEpiC	eye:	n/a
33	chr4:1210066-1210116	Caco-2	colon:	n/a
34	chr4:1210066-1210116	HCM	heart:	n/a
35	chr4:1209844-1209894	HL-60	blood:	n/a
36	chr4:1209844-1209894	GM12878	blood:	n/a
37	chr4:1209844-1209894	HRE	kidney:	n/a
38	chr4:1210066-1210116	T-47D	breast:	n/a
39	chr4:1210066-1210116	GM19239	blood:	n/a
40	chr4:1209971-1210021	PANC-1	pancreas:	n/a
41	chr4:1209844-1209894	AoSMC	blood vessel:	n/a
42	chr4:1209844-1209894	Hepatocyte	liver:	n/a
43	chr4:1210066-1210116	AG09319	gingival:	n/a
44	chr4:1209844-1209894	ProgFib	skin:	n/a
45	chr4:1209844-1209894	HIPEpiC	eye:	n/a
46	chr4:1210066-1210116	Jurkat	blood:	n/a
47	chr4:1209971-1210021	Caco-2	colon:	n/a
48	chr4:1209844-1209894	BE2_C	brain:	n/a
49	chr4:1209971-1210021	NT2-D1	testis:	n/a
50	chr4:1209971-1210021	HEEpiC	esophagus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
2	chr4:1209494..1211546-chr4:1218177..1220594,3	MCF-7	breast:
3	chr2:86422281..86424225-chr4:1209194..1210696,2	K562	blood:
4	chr4:1203383..1207466-chr4:1208474..1210757,3	K562	blood:

No data

Variant related genes	Relation type
CTBP1	TF binding region
CTBP1	CpG island
ENSG00000159692	chromatin interactions
ENSG00000273080	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000132305	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529740572	chr4:1209883-1209884	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs377714722	chr4:1209899-1209900	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs371355192	chr4:1209900-1209901	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs567980949	chr4:1209918-1209919	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs372599555	chr4:1209938-1209939	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs142670248	chr4:1209952-1209953	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs370377200	chr4:1209953-1209954	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370649780	chr4:1209958-1209959	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs186090455	chr4:1209971-1209972	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs376681305	chr4:1209989-1209990	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374755819	chr4:1209996-1209997	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs571881989	chr4:1209999-1210000	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs375283311	chr4:1210002-1210003	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs201816175	chr4:1210009-1210010	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs372153693	chr4:1210040-1210041	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs557479089	chr4:1210047-1210048	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs371816731	chr4:1210058-1210059	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs551371217	chr4:1210111-1210112	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs112053976	chr4:1210123-1210124	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs536685291	chr4:1210143-1210144	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs554545454	chr4:1210152-1210153	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs139852734	chr4:1210164-1210165	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs540153874	chr4:1210175-1210176	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs3755950	chr4:1210178-1210179	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189239346	chr4:1210281-1210282	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20393555	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1195200-1214600	Weak transcription	A549	lung
2	chr4:1198000-1211200	Genic enhancers	Fetal Stomach	stomach
3	chr4:1201600-1211600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:1201800-1210000	Strong transcription	Thymus	Thymus
5	chr4:1202400-1210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:1202600-1210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:1202800-1210200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
9	chr4:1203000-1210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:1203400-1210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:1203400-1213000	Weak transcription	Fetal Kidney	kidney
13	chr4:1203800-1223000	Strong transcription	Osteobl	bone
14	chr4:1204000-1211600	Genic enhancers	Esophagus	oesophagus
15	chr4:1204000-1218000	Weak transcription	K562	blood
16	chr4:1204200-1212600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr4:1204400-1210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:1204400-1210400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:1204400-1210800	Strong transcription	Fetal Intestine Large	intestine
20	chr4:1204400-1211600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:1204400-1211600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:1204400-1211600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr4:1204400-1212000	Strong transcription	NHEK	skin
24	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
25	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:1204600-1210000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:1204600-1210200	Weak transcription	Fetal Heart	heart
28	chr4:1204600-1220400	Strong transcription	Liver	Liver
29	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:1204800-1211000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:1204800-1212000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:1204800-1213800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
35	chr4:1205000-1210000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:1205000-1210200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:1205000-1210600	Weak transcription	Small Intestine	intestine
38	chr4:1205000-1211000	Weak transcription	Right Atrium	heart
39	chr4:1205000-1213400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:1205000-1226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:1205200-1210000	Strong transcription	Right Ventricle	heart
42	chr4:1205200-1210400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:1205200-1211800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:1205200-1218000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:1205400-1226800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:1205600-1210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:1205800-1210400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr4:1205800-1211400	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr4:1205800-1211600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:1205800-1228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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