Variant report

Variant	nsv511747
Chromosome Location	chr1:242220233-242230245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:427)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:242229314-242229325	K562	blood:	n/a	n/a
2	BATF	chr1:242221934-242222160	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:242221096-242221361	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:242228014-242228271	HepG2	liver:	n/a	chr1:242228085-242228096
5	GATA2	chr1:242221018-242221371	SH-SY5Y	brain:	n/a	chr1:242221318-242221326
6	POLR2A	chr1:242227909-242228099	MCF10A-Er-Src	breast:	n/a	n/a
7	POU2F2	chr1:242221935-242222130	GM12878	blood:	n/a	n/a
8	POU2F2	chr1:242221932-242222219	GM12878	blood:	n/a	n/a
9	POU2F2	chr1:242221888-242222278	GM12878	blood:	n/a	n/a
10	RUNX3	chr1:242221886-242222215	GM12878	blood:	n/a	n/a
11	RUNX3	chr1:242221904-242222164	GM12878	blood:	n/a	n/a
12	TCF3	chr1:242220075-242220296	GM12878	blood:	n/a	n/a
13	USF1	chr1:242225845-242226127	A549	lung:	n/a	chr1:242226025-242226036
14	USF1	chr1:242225921-242226070	HepG2	liver:	n/a	chr1:242226025-242226036
15	YY1	chr1:242222980-242223264	GM12878	blood:	n/a	n/a
16	YY1	chr1:242223116-242223313	GM12892	blood:	n/a	n/a
17	YY1	chr1:242222992-242223262	GM12878	blood:	n/a	n/a
18	YY1	chr1:242223068-242223243	K562	blood:	n/a	n/a
19	ZBTB33	chr1:242219955-242220310	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242222868-242222918	ovcar-3	ovarian:	n/a
2	chr1:242220538-242220588	ProgFib	skin:	n/a
3	chr1:242224772-242224822	GM12892	blood:	n/a
4	chr1:242220475-242220525	BE2_C	brain:	n/a
5	chr1:242222868-242222918	NHBE	bronchial:	n/a
6	chr1:242220771-242220821	HRPEpiC	eye:	n/a
7	chr1:242220301-242220351	RPTEC	kidney:	n/a
8	chr1:242220771-242220821	GM12892	blood:	n/a
9	chr1:242220925-242220975	T-47D	breast:	n/a
10	chr1:242220301-242220351	LNCaP	prostate:	n/a
11	chr1:242220925-242220975	GM12878	blood:	n/a
12	chr1:242224772-242224822	AG04450	lung:	fetal
13	chr1:242220925-242220975	ProgFib	skin:	n/a
14	chr1:242224772-242224822	AoSMC	blood vessel:	n/a
15	chr1:242220538-242220588	ovcar-3	ovarian:	n/a
16	chr1:242222868-242222918	T-47D	breast:	n/a
17	chr1:242220475-242220525	MCF10A-Er-Src	breast:	n/a
18	chr1:242220925-242220975	Caco-2	colon:	n/a
19	chr1:242220771-242220821	AG04450	lung:	fetal
20	chr1:242220301-242220351	ECC-1	luminal epithelium:	n/a
21	chr1:242220538-242220588	NB4	blood:	n/a
22	chr1:242220925-242220975	Hela-S3	cervix:	n/a
23	chr1:242220538-242220588	HUVEC	blood vessel:	n/a
24	chr1:242220925-242220975	HAEpiC	amniotic membrane:	n/a
25	chr1:242220771-242220821	U87	brain:	n/a
26	chr1:242220475-242220525	T-47D	breast:	n/a
27	chr1:242224772-242224822	MCF10A-Er-Src	breast:	n/a
28	chr1:242220301-242220351	HRE	kidney:	n/a
29	chr1:242220538-242220588	GM12891	blood:	n/a
30	chr1:242220538-242220588	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:242220771-242220821	GM06990	blood:	n/a
32	chr1:242220475-242220525	AG09309	skin:	n/a
33	chr1:242220925-242220975	ECC-1	luminal epithelium:	n/a
34	chr1:242220301-242220351	HRCEpiC	kidney:	n/a
35	chr1:242222868-242222918	AG10803	skin:	n/a
36	chr1:242224772-242224822	SK-N-MC	brain:	n/a
37	chr1:242220925-242220975	HCM	heart:	n/a
38	chr1:242220475-242220525	RPTEC	kidney:	n/a
39	chr1:242220538-242220588	HIPEpiC	eye:	n/a
40	chr1:242220475-242220525	HMEC	breast:	n/a
41	chr1:242222868-242222918	NH-A	brain:	n/a
42	chr1:242222868-242222918	HCT-116	colon:	n/a
43	chr1:242220771-242220821	AG10803	skin:	n/a
44	chr1:242224772-242224822	HAEpiC	amniotic membrane:	n/a
45	chr1:242220475-242220525	AG04449	skin:	fetal
46	chr1:242224772-242224822	A549	lung:	n/a
47	chr1:242220301-242220351	HUVEC	blood vessel:	n/a
48	chr1:242222868-242222918	MCF-7	breast:	n/a
49	chr1:242220301-242220351	HRPEpiC	eye:	n/a
50	chr1:242220925-242220975	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242217500..242220203-chr1:242220898..242222680,2	K562	blood:
2	chr1:242219802..242221772-chr1:242224565..242228603,3	MCF-7	breast:

No data

Variant related genes	Relation type
TUBB8P6	TF binding region
TUBB8P6	CpG island
ENSG00000224625	chromatin interactions

Extended variants
information (count: 412 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551012813	chr1:242220250-242220251	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113758844	chr1:242220255-242220256	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145332147	chr1:242220261-242220262	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577043700	chr1:242220263-242220264	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568056260	chr1:242220267-242220268	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535069120	chr1:242220271-242220272	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs72759199	chr1:242220274-242220275	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141035526	chr1:242220276-242220277	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs74951761	chr1:242220288-242220289	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201179072	chr1:242220302-242220303	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs72759200	chr1:242220312-242220313	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs553735217	chr1:242220314-242220315	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs567536606	chr1:242220315-242220316	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs148874510	chr1:242220329-242220330	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs192260305	chr1:242220330-242220331	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs566624838	chr1:242220345-242220346	Enhancers Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs141343415	chr1:242220367-242220368	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72759201	chr1:242220369-242220370	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs72759202	chr1:242220373-242220374	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2185814	chr1:242220378-242220379	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143609360	chr1:242220379-242220380	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374346662	chr1:242220384-242220385	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368558667	chr1:242220385-242220386	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114918880	chr1:242220395-242220396	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs116621593	chr1:242220398-242220399	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575674101	chr1:242220407-242220408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114274872	chr1:242220411-242220412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115072361	chr1:242220413-242220414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554697995	chr1:242220437-242220438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145688244	chr1:242220452-242220453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575065820	chr1:242220462-242220463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540569189	chr1:242220470-242220471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560414659	chr1:242220485-242220486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555930285	chr1:242220486-242220487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557514771	chr1:242220487-242220488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371890314	chr1:242220537-242220538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546002184	chr1:242220548-242220549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564965075	chr1:242220610-242220611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530547339	chr1:242220673-242220674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544187208	chr1:242220700-242220701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560769584	chr1:242220772-242220773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183682585	chr1:242220796-242220797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546876684	chr1:242220805-242220806	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566789634	chr1:242220900-242220901	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532319504	chr1:242220908-242220909	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200214653	chr1:242220920-242220921	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569321027	chr1:242220953-242220954	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537991712	chr1:242220969-242220970	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58447934	chr1:242220987-242220988	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568315599	chr1:242220999-242221000	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242218600-242220400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:242219400-242220600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:242220000-242220400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr1:242220200-242220400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:242220200-242220800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:242220200-242221200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:242220400-242221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:242220400-242226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:242220800-242221000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:242220800-242221000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:242220800-242221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:242220800-242221200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:242221000-242221200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:242221000-242221200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:242221000-242221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:242221200-242221400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:242221200-242223800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:242222400-242222800	Enhancers	GM12878-XiMat	blood
19	chr1:242223800-242224600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:242225000-242228600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:242226200-242226400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:242228800-242229000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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