Variant report

Variant	nsv1011210
Chromosome Location	chr1:179117101-179128676
allele	n/a
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	ARID3A	chr1:179120877-179121723	HepG2	liver:	n/a	n/a
2	BHLHE40	chr1:179121057-179121117	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:179121492-179121772	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:179120993-179121398	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:179120941-179121587	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:179121056-179121372	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:179120901-179121555	A549	lung:	n/a	n/a
8	CTCF	chr1:179121277-179121334	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr1:179123260-179123410	HMF	breast:	n/a	n/a
10	CUX1	chr1:179121507-179121703	GM12878	blood:	n/a	n/a
11	CUX1	chr1:179125538-179125644	GM12878	blood:	n/a	n/a
12	EBF1	chr1:179121185-179121819	GM12878	blood:	n/a	n/a
13	EP300	chr1:179121604-179121739	GM12878	blood:	n/a	n/a
14	EP300	chr1:179121010-179121411	HepG2	liver:	n/a	n/a
15	EP300	chr1:179120867-179121531	HepG2	liver:	n/a	n/a
16	EP300	chr1:179120923-179121559	HepG2	liver:	n/a	n/a
17	EP300	chr1:179120906-179121631	A549	lung:	n/a	n/a
18	FOXA1	chr1:179120875-179121621	HepG2	liver:	n/a	n/a
19	FOXA1	chr1:179125085-179125535	T-47D	breast:	n/a	n/a
20	FOXA1	chr1:179120943-179121564	HepG2	liver:	n/a	n/a
21	FOXA1	chr1:179120904-179121723	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:179125255-179125477	T-47D	breast:	n/a	n/a
23	FOXA1	chr1:179120958-179121648	HepG2	liver:	n/a	n/a
24	FOXA2	chr1:179120962-179121493	HepG2	liver:	n/a	n/a
25	FOXA2	chr1:179120600-179122003	HepG2	liver:	n/a	n/a
26	FOXA2	chr1:179121163-179121608	A549	lung:	n/a	n/a
27	FOXA2	chr1:179121157-179121563	A549	lung:	n/a	n/a
28	GATA3	chr1:179127641-179127665	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr1:179120755-179120790	SH-SY5Y	brain:	n/a	n/a
30	HDAC2	chr1:179120895-179121535	HepG2	liver:	n/a	n/a
31	HDAC2	chr1:179120945-179121529	HepG2	liver:	n/a	n/a
32	HNF4A	chr1:179120896-179121528	HepG2	liver:	n/a	chr1:179121358-179121370 chr1:179121357-179121371 chr1:179121358-179121370
33	HNF4A	chr1:179120925-179121472	HepG2	liver:	n/a	chr1:179121358-179121370 chr1:179121357-179121371 chr1:179121358-179121370
34	HNF4G	chr1:179120943-179121579	HepG2	liver:	n/a	chr1:179121358-179121370 chr1:179121357-179121371 chr1:179121358-179121370
35	HNF4G	chr1:179120878-179121548	HepG2	liver:	n/a	chr1:179121358-179121370 chr1:179121357-179121371 chr1:179121358-179121370
36	JUN	chr1:179121010-179121365	HepG2	liver:	n/a	n/a
37	JUND	chr1:179120998-179121333	HepG2	liver:	n/a	n/a
38	JUND	chr1:179121113-179121430	HepG2	liver:	n/a	n/a
39	MAFF	chr1:179120762-179121494	HepG2	liver:	n/a	n/a
40	MAFK	chr1:179120692-179121360	HepG2	liver:	n/a	chr1:179120763-179120783
41	MAFK	chr1:179120724-179121590	HepG2	liver:	n/a	chr1:179120763-179120783
42	MAX	chr1:179121626-179121739	GM12878	blood:	n/a	n/a
43	MAX	chr1:179120874-179121549	HepG2	liver:	n/a	n/a
44	MAX	chr1:179121017-179121466	HepG2	liver:	n/a	n/a
45	MBD4	chr1:179120882-179121543	HepG2	liver:	n/a	n/a
46	MXI1	chr1:179121653-179121853	GM12878	blood:	n/a	n/a
47	MYBL2	chr1:179120863-179121542	HepG2	liver:	n/a	n/a
48	MYBL2	chr1:179120746-179121624	HepG2	liver:	n/a	n/a
49	NFIC	chr1:179120931-179121570	HepG2	liver:	n/a	n/a
50	NFIC	chr1:179120866-179121603	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179108694..179110499-chr1:179120494..179123045,2	MCF-7	breast:
2	chr1:179122193..179124932-chr1:179127076..179128871,2	K562	blood:
3	chr1:179097406..179100383-chr1:179127242..179129431,2	MCF-7	breast:
4	chr1:179126205..179128954-chr1:179131853..179134675,3	K562	blood:
5	chr1:179121378..179123693-chr1:179125913..179128576,2	K562	blood:
6	chr1:179121378..179123693-chr1:179125913..179128576,2	K562	blood:
7	chr1:179122193..179124932-chr1:179127076..179128871,2	K562	blood:

Variant related genes	Relation type
ABL2	TF binding region

Extended variants
information (count: 406 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:406 , 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	rs2793790	chr1:179117101-179117102	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535988621	chr1:179117144-179117145	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555260385	chr1:179117179-179117180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569066432	chr1:179117316-179117317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537726307	chr1:179117333-179117334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186134859	chr1:179117361-179117362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189288617	chr1:179117414-179117415	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539802753	chr1:179117452-179117453	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72709463	chr1:179117453-179117454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573646338	chr1:179117477-179117478	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182333970	chr1:179117478-179117479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547673549	chr1:179117492-179117493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186055682	chr1:179117586-179117587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143252579	chr1:179117627-179117628	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190926154	chr1:179117631-179117632	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183193479	chr1:179117640-179117641	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76516994	chr1:179117666-179117667	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2816185	chr1:179117740-179117741	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs539586901	chr1:179117754-179117755	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533120214	chr1:179117789-179117790	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549625061	chr1:179117803-179117804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113680642	chr1:179117830-179117831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377329652	chr1:179117850-179117851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185344904	chr1:179117864-179117865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529351088	chr1:179117893-179117894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549482779	chr1:179117933-179117934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs151161177	chr1:179117980-179117981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538009467	chr1:179117981-179117982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140323335	chr1:179117983-179117984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150338169	chr1:179117984-179117985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377293200	chr1:179118048-179118049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200981761	chr1:179118049-179118050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201817750	chr1:179118050-179118051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200171643	chr1:179118051-179118052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75826719	chr1:179118062-179118063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138093736	chr1:179118158-179118159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11589547	chr1:179118182-179118183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553337617	chr1:179118184-179118185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190156838	chr1:179118207-179118208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs142263002	chr1:179118223-179118224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182736524	chr1:179118348-179118349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576067707	chr1:179118453-179118454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116190779	chr1:179118462-179118463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535131794	chr1:179118494-179118495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554938058	chr1:179118540-179118541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187369383	chr1:179118561-179118562	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533655987	chr1:179118567-179118568	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540959511	chr1:179118584-179118585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193249375	chr1:179118730-179118731	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529257602	chr1:179118731-179118732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179093400-179117200	Weak transcription	Fetal Stomach	stomach
2	chr1:179099600-179119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:179099600-179122600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:179100000-179121000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:179100600-179117200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:179107600-179119800	Weak transcription	Liver	Liver
7	chr1:179110000-179118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:179110200-179121400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:179111000-179118200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:179111400-179117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:179111400-179118400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:179111400-179121400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:179111400-179121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:179112200-179118800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:179112200-179121800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:179112200-179121800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:179112200-179124600	Weak transcription	Left Ventricle	heart
18	chr1:179112400-179117200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:179112400-179117400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:179112400-179117400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:179112400-179117600	Weak transcription	Right Ventricle	heart
22	chr1:179112400-179118400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:179112400-179119600	Weak transcription	HepG2	liver
24	chr1:179112400-179121000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:179112400-179121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:179112400-179121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:179112400-179121400	Weak transcription	Small Intestine	intestine
28	chr1:179112400-179121600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:179112400-179133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:179112400-179139000	Weak transcription	K562	blood
31	chr1:179112800-179117200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:179112800-179119000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:179113200-179133000	Weak transcription	Hela-S3	cervix
34	chr1:179113600-179117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:179113600-179121600	Weak transcription	Ovary	ovary
36	chr1:179113800-179121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:179114200-179119800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:179115000-179119600	Weak transcription	A549	lung
39	chr1:179115600-179121000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:179116000-179121200	Weak transcription	Psoas Muscle	Psoas
41	chr1:179116000-179121600	Weak transcription	Fetal Heart	heart
42	chr1:179116200-179117600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:179116200-179118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:179116200-179118600	Weak transcription	NH-A	brain
45	chr1:179116200-179120200	Weak transcription	NHEK	skin
46	chr1:179116200-179121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:179116200-179121400	Weak transcription	HSMM	muscle
48	chr1:179116200-179122600	Weak transcription	NHLF	lung
49	chr1:179116200-179124000	Weak transcription	Osteobl	bone
50	chr1:179116200-179124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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