Variant report

Variant	nsv524688
Chromosome Location	chr7:120305149-120327349
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	BRCA1	chr7:120321256-120321284	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:120312042-120312225	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:120314216-120314533	MCF-7	breast:	n/a	n/a
4	CHD1	chr7:120306405-120306414	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F4	chr7:120305179-120305191	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr7:120314179-120314489	MCF-7	breast:	n/a	n/a
7	EP300	chr7:120314140-120314641	MCF-7	breast:	n/a	n/a
8	FAM48A	chr7:120317096-120317154	GM12878	blood:	n/a	n/a
9	FAM48A	chr7:120323967-120324078	GM12878	blood:	n/a	n/a
10	GATA3	chr7:120314128-120314756	MCF-7	breast:	n/a	n/a
11	GATA3	chr7:120314161-120314601	MCF-7	breast:	n/a	n/a
12	GATA3	chr7:120326878-120327023	SH-SY5Y	brain:	n/a	n/a
13	HDAC2	chr7:120314184-120314525	MCF-7	breast:	n/a	n/a
14	JUN	chr7:120319782-120319868	K562	blood:	n/a	n/a
15	MAFF	chr7:120305166-120305454	HepG2	liver:	n/a	n/a
16	MAFF	chr7:120319526-120319770	HepG2	liver:	n/a	chr7:120319627-120319641 chr7:120319628-120319646
17	MAFF	chr7:120319508-120319705	K562	blood:	n/a	chr7:120319627-120319641 chr7:120319628-120319646
18	MAFK	chr7:120321655-120321855	HepG2	liver:	n/a	n/a
19	MAFK	chr7:120319781-120319911	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr7:120305151-120305470	HepG2	liver:	n/a	chr7:120305319-120305334 chr7:120305281-120305296
21	MAFK	chr7:120319513-120319759	IMR90	lung:	n/a	chr7:120319624-120319644 chr7:120319632-120319646 chr7:120319626-120319642
22	MAFK	chr7:120319519-120319741	HepG2	liver:	n/a	chr7:120319624-120319644 chr7:120319632-120319646 chr7:120319626-120319642
23	MAFK	chr7:120305179-120305449	HepG2	liver:	n/a	chr7:120305319-120305334 chr7:120305281-120305296
24	MAFK	chr7:120319493-120319770	HepG2	liver:	n/a	chr7:120319624-120319644 chr7:120319632-120319646 chr7:120319626-120319642
25	MAFK	chr7:120321716-120321854	HepG2	liver:	n/a	n/a
26	MAX	chr7:120314086-120314491	MCF-7	breast:	n/a	n/a
27	MAZ	chr7:120311755-120311935	HepG2	liver:	n/a	n/a
28	MYC	chr7:120314179-120314314	MCF-7	breast:	n/a	n/a
29	NR2F2	chr7:120314085-120314517	MCF-7	breast:	n/a	n/a
30	POLR2A	chr7:120326904-120326935	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr7:120306194-120306385	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:120312661-120312718	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr7:120309712-120309873	ProgFib	skin:	n/a	n/a
34	POLR2A	chr7:120320657-120320671	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr7:120308811-120308995	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr7:120306610-120306905	H1-hESC	embryonic stem cell:	n/a	chr7:120306710-120306720
37	RAD21	chr7:120306738-120306856	H1-hESC	embryonic stem cell:	n/a	n/a
38	RFX5	chr7:120322325-120322334	K562	blood:	n/a	n/a
39	RUNX3	chr7:120321391-120321788	GM12878	blood:	n/a	chr7:120321622-120321631 chr7:120321646-120321655 chr7:120321646-120321655
40	SIN3AK20	chr7:120313970-120314692	MCF-7	breast:	n/a	n/a
41	STAT3	chr7:120316348-120316394	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr7:120307049-120307051	MCF10A-Er-Src	breast:	n/a	n/a
43	TCF12	chr7:120313936-120314628	MCF-7	breast:	n/a	n/a
44	ZKSCAN1	chr7:120323002-120323028	Hela-S3	cervix:	n/a	n/a
45	ZNF217	chr7:120314313-120314458	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120306644..120308434-chr7:120310032..120311976,2	K562	blood:
2	chr7:120313871..120314817-chr7:120343491..120344070,2	MCF-7	breast:
3	chr7:120306644..120308434-chr7:120310032..120311976,2	K562	blood:
4	chr7:120313882..120314499-chr7:120360830..120361669,2	MCF-7	breast:
5	chr7:120313917..120314645-chr7:120356906..120357867,3	MCF-7	breast:
6	chr7:120299066..120301946-chr7:120309100..120311473,2	K562	blood:
7	chr7:120297658..120300420-chr7:120317170..120319452,2	K562	blood:
8	chr7:120323919..120325444-chr7:120328425..120329948,2	K562	blood:
9	chr7:120312478..120314799-chr7:120323840..120326273,2	K562	blood:

Variant related genes	Relation type
RNU6-581P	TF binding region
ENSG00000252023	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367951697	chr7:120308844-120308845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139900076	chr7:120308877-120308878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532006595	chr7:120308905-120308906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548919241	chr7:120308909-120308910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149834436	chr7:120308958-120308959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539086949	chr7:120309248-120309249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534448567	chr7:120309264-120309265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559101345	chr7:120309305-120309306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570132796	chr7:120309325-120309326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537724323	chr7:120309336-120309337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554476387	chr7:120309339-120309340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574364774	chr7:120309358-120309359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117118687	chr7:120309370-120309371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113510656	chr7:120309435-120309436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147103647	chr7:120309443-120309444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545927836	chr7:120309515-120309516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556765101	chr7:120309516-120309517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181733519	chr7:120309542-120309543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147563005	chr7:120309551-120309552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141929544	chr7:120309561-120309562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543646531	chr7:120309590-120309591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143086118	chr7:120309632-120309633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563413309	chr7:120309635-120309636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375207794	chr7:120309723-120309724	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115213462	chr7:120309770-120309771	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185592022	chr7:120309779-120309780	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs549892578	chr7:120309934-120309935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531724662	chr7:120309959-120309960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542572882	chr7:120309960-120309961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531442404	chr7:120309993-120309994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565940080	chr7:120309997-120309998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548075213	chr7:120310021-120310022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568218055	chr7:120310023-120310024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558893526	chr7:120310068-120310069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534099923	chr7:120310071-120310072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553453205	chr7:120310072-120310073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570447960	chr7:120310080-120310081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539516876	chr7:120310106-120310107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549884829	chr7:120310107-120310108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60500498	chr7:120310131-120310132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148228731	chr7:120310175-120310176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542397513	chr7:120310188-120310189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147735804	chr7:120311789-120311790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554037586	chr7:120311809-120311810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573254583	chr7:120311827-120311828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545194295	chr7:120311830-120311831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557965394	chr7:120311847-120311848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577949081	chr7:120311855-120311856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs559087270	chr7:120311866-120311867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs543732805	chr7:120311867-120311868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120309200-120310200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:120314000-120315400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:120320600-120321600	Enhancers	Adipose Nuclei	Adipose
4	chr7:120321200-120321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:120321200-120321400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr7:120321200-120321600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:120321200-120321600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr7:120321200-120322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:120321200-120322000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
10	chr7:120321200-120322200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:120321400-120322000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:120321600-120322600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:120321800-120322600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:120322600-120323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:120324000-120324800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:120324200-120324600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:120324200-120324800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:120324600-120324800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:120324600-120325000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:120324800-120332200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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