Variant report

Variant	nsv594689
Chromosome Location	chr4:76309415-76323522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:76321013-76321304	HepG2	liver:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
2	CEBPB	chr4:76319825-76319934	IMR90	lung:	n/a	n/a
3	CEBPB	chr4:76321097-76321297	IMR90	lung:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
4	CEBPB	chr4:76321118-76321291	K562	blood:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
5	CEBPB	chr4:76321079-76321193	A549	lung:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
6	CEBPB	chr4:76319796-76319943	K562	blood:	n/a	n/a
7	CTCF	chr4:76321800-76321950	GM12866	blood:	n/a	n/a
8	EP300	chr4:76318525-76318629	K562	blood:	n/a	chr4:76318611-76318625
9	FOXA2	chr4:76316724-76316928	HepG2	liver:	n/a	n/a
10	MYC	chr4:76316716-76316882	HepG2	liver:	n/a	n/a
11	MYC	chr4:76316887-76316891	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:76319650-76319751	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr4:76316713-76316779	PANC-1	pancreas:	n/a	n/a
14	SPI1	chr4:76317028-76317547	HL-60	blood:	n/a	n/a
15	STAT3	chr4:76316834-76316835	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF7L2	chr4:76316806-76317190	HepG2	liver:	n/a	chr4:76316900-76316907

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76317967-76318017	HL-60	blood:	n/a
2	chr4:76317967-76318017	NH-A	brain:	n/a
3	chr4:76317967-76318017	HCF	heart:	n/a
4	chr4:76317967-76318017	AG04449	skin:	fetal
5	chr4:76317967-76318017	ECC-1	luminal epithelium:	n/a
6	chr4:76317967-76318017	BJ	skin:	n/a
7	chr4:76317967-76318017	GM19239	blood:	n/a
8	chr4:76317967-76318017	GM12878	blood:	n/a
9	chr4:76317967-76318017	LNCaP	prostate:	n/a
10	chr4:76317967-76318017	HAEpiC	amniotic membrane:	n/a
11	chr4:76317967-76318017	Jurkat	blood:	n/a
12	chr4:76317967-76318017	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:76317967-76318017	NHDF-neo	bronchial:	n/a
14	chr4:76317967-76318017	BE2_C	brain:	n/a
15	chr4:76317967-76318017	MCF10A-Er-Src	breast:	n/a
16	chr4:76317967-76318017	Hepatocyte	liver:	n/a
17	chr4:76317967-76318017	H1-hESC	embryonic stem cell:	embryo
18	chr4:76317967-76318017	ovcar-3	ovarian:	n/a
19	chr4:76317967-76318017	AG09319	gingival:	n/a
20	chr4:76317967-76318017	HMEC	breast:	n/a
21	chr4:76317967-76318017	HEK293	kidney:	embryo
22	chr4:76317967-76318017	IMR90	lung:	fetal
23	chr4:76317967-76318017	HRE	kidney:	n/a
24	chr4:76317967-76318017	HUVEC	blood vessel:	n/a
25	chr4:76317967-76318017	HepG2	liver:	n/a
26	chr4:76317967-76318017	A549	lung:	n/a
27	chr4:76317967-76318017	HCT-116	colon:	n/a
28	chr4:76317967-76318017	PFSK-1	brain:	n/a
29	chr4:76317967-76318017	AG04450	lung:	fetal
30	chr4:76317967-76318017	HEEpiC	esophagus:	n/a
31	chr4:76317967-76318017	SKMC	muscle:	n/a
32	chr4:76317967-76318017	SK-N-MC	brain:	n/a
33	chr4:76317967-76318017	GM12891	blood:	n/a
34	chr4:76317967-76318017	SK-N-SH	brain:	n/a
35	chr4:76317967-76318017	MCF-7	breast:	n/a
36	chr4:76317967-76318017	HNPCEpiC	eye:	n/a
37	chr4:76317967-76318017	HRCEpiC	kidney:	n/a
38	chr4:76317967-76318017	T-47D	breast:	n/a
39	chr4:76317967-76318017	K562	blood:	n/a
40	chr4:76317967-76318017	SAEC	small airway:	n/a
41	chr4:76317967-76318017	NT2-D1	testis:	n/a
42	chr4:76317967-76318017	GM06990	blood:	n/a
43	chr4:76317967-76318017	HIPEpiC	eye:	n/a
44	chr4:76317967-76318017	HCM	heart:	n/a
45	chr4:76317967-76318017	RPTEC	kidney:	n/a
46	chr4:76317967-76318017	NB4	blood:	n/a
47	chr4:76317967-76318017	PrEC	prostate:	n/a
48	chr4:76317967-76318017	AG10803	skin:	n/a
49	chr4:76317967-76318017	Caco-2	colon:	n/a
50	chr4:76317967-76318017	AoSMC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCHY1-6	chr4:76322898-76323124	l_2668_chr4:76322897-76324689_adipose

No data

Variant related genes	Relation type
ENSG00000250735	TF binding region
ENSG00000250735	CpG island

Extended variants
information (count: 645 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566182045	chr4:76311414-76311415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139154771	chr4:76311455-76311456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533212813	chr4:76311465-76311466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552028127	chr4:76311478-76311479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570426035	chr4:76311479-76311480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200937733	chr4:76311481-76311482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386676164	chr4:76311482-76311483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372481343	chr4:76311483-76311484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202194823	chr4:76311484-76311485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113275843	chr4:76311539-76311540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78777336	chr4:76311552-76311553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536816663	chr4:76311597-76311598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9994830	chr4:76311657-76311658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10011057	chr4:76311708-76311709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540715867	chr4:76311711-76311712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114510096	chr4:76311737-76311738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9994939	chr4:76311743-76311744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544293615	chr4:76311744-76311745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192077482	chr4:76311752-76311753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66775537	chr4:76311797-76311798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201298693	chr4:76311802-76311803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201513802	chr4:76311804-76311805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574395398	chr4:76311805-76311806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59906647	chr4:76311806-76311807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201280877	chr4:76311808-76311809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36229917	chr4:76311811-76311812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201570034	chr4:76311812-76311813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199955705	chr4:76311823-76311824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200577365	chr4:76311827-76311828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377454715	chr4:76311830-76311831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555765207	chr4:76311850-76311851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377010403	chr4:76311911-76311912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541582338	chr4:76311912-76311913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559904864	chr4:76311915-76311916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527540598	chr4:76311928-76311929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552229405	chr4:76311942-76311943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113235088	chr4:76311952-76311953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370282410	chr4:76311980-76311981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35577900	chr4:76311989-76311990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs183387192	chr4:76311990-76311991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72860875	chr4:76312069-76312070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536956918	chr4:76312083-76312084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550916736	chr4:76312093-76312094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28440049	chr4:76312125-76312126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147772974	chr4:76312143-76312144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534160474	chr4:76312152-76312153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188400623	chr4:76312195-76312196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148817197	chr4:76312204-76312205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28510744	chr4:76312228-76312229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556146433	chr4:76312237-76312238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76311400-76312000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:76312000-76317000	Weak transcription	Spleen	Spleen
3	chr4:76316800-76317400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:76316800-76317400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:76316800-76317400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:76316800-76317400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:76316800-76317400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:76316800-76317400	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:76316800-76317600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:76316800-76317600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:76316800-76318000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:76316800-76318200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:76317000-76317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:76317000-76317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:76317000-76317400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:76317000-76317400	Enhancers	Pancreas	Pancrea
17	chr4:76317000-76317400	Enhancers	Spleen	Spleen
18	chr4:76317000-76317800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:76317200-76321800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:76317400-76319000	Weak transcription	Pancreas	Pancrea
21	chr4:76319000-76319200	ZNF genes & repeats	Pancreas	Pancrea
22	chr4:76320800-76321000	Enhancers	HSMMtube	muscle
23	chr4:76321800-76322200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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