Variant report

Variant	nsv970759
Chromosome Location	chr7:64201092-64222761
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	ATF1	chr7:64205159-64205452	K562	blood:	n/a	n/a
2	ATF3	chr7:64205153-64205456	K562	blood:	n/a	n/a
3	BACH1	chr7:64205275-64205435	K562	blood:	n/a	n/a
4	CBX3	chr7:64208182-64208485	K562	blood:	n/a	n/a
5	CEBPB	chr7:64205178-64205419	K562	blood:	n/a	n/a
6	CEBPB	chr7:64205198-64205473	MCF-7	breast:	n/a	n/a
7	CEBPB	chr7:64205157-64205438	K562	blood:	n/a	n/a
8	CEBPB	chr7:64205127-64205438	K562	blood:	n/a	n/a
9	CEBPD	chr7:64205177-64205487	K562	blood:	n/a	n/a
10	CEBPD	chr7:64205154-64205469	K562	blood:	n/a	n/a
11	CTCF	chr7:64206675-64206710	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr7:64201045-64201120	GM20000	blood:	n/a	n/a
13	ELF1	chr7:64216169-64216384	K562	blood:	n/a	n/a
14	EP300	chr7:64205136-64205439	K562	blood:	n/a	n/a
15	FOS	chr7:64222688-64222745	MCF10A-Er-Src	breast:	n/a	chr7:64222694-64222706 chr7:64222693-64222701 chr7:64222695-64222705 chr7:64222696-64222705 chr7:64222695-64222704
16	FOS	chr7:64205201-64205401	MCF10A-Er-Src	breast:	n/a	chr7:64205269-64205281 chr7:64205271-64205279
17	FOXA1	chr7:64205215-64205372	T-47D	breast:	n/a	n/a
18	FOXA1	chr7:64218529-64218865	T-47D	breast:	n/a	n/a
19	GATA1	chr7:64204993-64205602	K562	blood:	n/a	chr7:64205284-64205293 chr7:64205284-64205294
20	GATA3	chr7:64205149-64205594	MCF-7	breast:	n/a	chr7:64205284-64205293 chr7:64205284-64205294
21	GATA3	chr7:64205056-64205575	MCF-7	breast:	n/a	chr7:64205284-64205293 chr7:64205284-64205294
22	GATA3	chr7:64218508-64219190	MCF-7	breast:	n/a	n/a
23	GATA3	chr7:64218486-64219093	MCF-7	breast:	n/a	n/a
24	GATA3	chr7:64218602-64218909	MCF-7	breast:	n/a	n/a
25	GATA3	chr7:64218511-64219037	T-47D	breast:	n/a	n/a
26	GATA3	chr7:64218576-64218936	MCF-7	breast:	n/a	n/a
27	GATA3	chr7:64218532-64219016	T-47D	breast:	n/a	n/a
28	HDAC2	chr7:64218635-64218961	MCF-7	breast:	n/a	n/a
29	JUN	chr7:64204982-64205576	K562	blood:	n/a	chr7:64205269-64205281 chr7:64205271-64205279
30	JUN	chr7:64205123-64205424	K562	blood:	n/a	chr7:64205269-64205281 chr7:64205271-64205279
31	JUN	chr7:64205098-64205466	K562	blood:	n/a	chr7:64205269-64205281 chr7:64205271-64205279
32	JUN	chr7:64208197-64208394	K562	blood:	n/a	n/a
33	JUND	chr7:64205115-64205478	K562	blood:	n/a	chr7:64205269-64205281 chr7:64205271-64205279
34	JUND	chr7:64222597-64222749	HepG2	liver:	n/a	chr7:64222694-64222706 chr7:64222693-64222701 chr7:64222694-64222705 chr7:64222695-64222705 chr7:64222696-64222705 chr7:64222695-64222704
35	KAP1	chr7:64208098-64208767	K562	blood:	n/a	n/a
36	KAP1	chr7:64205199-64205498	U2OS	brain:	n/a	n/a
37	MAFF	chr7:64205140-64205426	K562	blood:	n/a	n/a
38	MAFK	chr7:64217835-64217951	HepG2	liver:	n/a	n/a
39	MAFK	chr7:64205136-64205448	K562	blood:	n/a	chr7:64205269-64205278 chr7:64205269-64205279
40	MEF2A	chr7:64205143-64205351	K562	blood:	n/a	chr7:64205243-64205254 chr7:64205242-64205257 chr7:64205244-64205255 chr7:64205242-64205256 chr7:64205241-64205256 chr7:64205241-64205257 chr7:64205242-64205258 chr7:64205245-64205254 chr7:64205240-64205261
41	MEF2A	chr7:64205051-64205401	K562	blood:	n/a	chr7:64205243-64205254 chr7:64205242-64205257 chr7:64205244-64205255 chr7:64205242-64205256 chr7:64205241-64205256 chr7:64205241-64205257 chr7:64205242-64205258 chr7:64205245-64205254 chr7:64205240-64205261
42	NFYB	chr7:64217722-64217962	K562	blood:	n/a	n/a
43	POLR2A	chr7:64201326-64201392	ProgFib	skin:	n/a	n/a
44	POLR2A	chr7:64201248-64201438	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:64211130-64211205	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:64204060-64204209	ProgFib	skin:	n/a	n/a
47	RCOR1	chr7:64205145-64205486	K562	blood:	n/a	n/a
48	RXRA	chr7:64212359-64212532	HepG2	liver:	n/a	n/a
49	SETDB1	chr7:64208130-64208796	U2OS	brain:	n/a	n/a
50	SETDB1	chr7:64209871-64210316	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64211181..64214783-chr7:64252018..64254908,3	MCF-7	breast:
2	chr7:64190346..64193320-chr7:64214273..64216888,2	K562	blood:
3	chr20:52811971..52812486-chr7:64216984..64217725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224172	TF binding region
ENSG00000197008	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546727288	chr7:64201257-64201258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71055277	chr7:64201269-64201270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs398004970	chr7:64201284-64201285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565518664	chr7:64201356-64201357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147894373	chr7:64201386-64201387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551353741	chr7:64201432-64201433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538860873	chr7:64201433-64201434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183701150	chr7:64205203-64205204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201944773	chr7:64205215-64205216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75303889	chr7:64205284-64205285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114701163	chr7:64205304-64205305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570036113	chr7:64205455-64205456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189628005	chr7:64205467-64205468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565911697	chr7:64205482-64205483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145493506	chr7:64205494-64205495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115664001	chr7:64205501-64205502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553678973	chr7:64205504-64205505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577002355	chr7:64205536-64205537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561451006	chr7:64205578-64205579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372868404	chr7:64205594-64205595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151195534	chr7:64205598-64205599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192481007	chr7:64205612-64205613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558483053	chr7:64205635-64205636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556443910	chr7:64205640-64205641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575599039	chr7:64205652-64205653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541426906	chr7:64205661-64205662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561392094	chr7:64205699-64205700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571798678	chr7:64205738-64205739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57654381	chr7:64205743-64205744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564498411	chr7:64205748-64205749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62455845	chr7:64205781-64205782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145052943	chr7:64205782-64205783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141134699	chr7:64205783-64205784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529260388	chr7:64205811-64205812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549398111	chr7:64205826-64205827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184561966	chr7:64205841-64205842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575012919	chr7:64205859-64205860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528563299	chr7:64205869-64205870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143139731	chr7:64205900-64205901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570527817	chr7:64205901-64205902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550128960	chr7:64205924-64205925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58551745	chr7:64205931-64205932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146675626	chr7:64205946-64205947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556137360	chr7:64205969-64205970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114026108	chr7:64206179-64206180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189796167	chr7:64206242-64206243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562641193	chr7:64206276-64206277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554927821	chr7:64206292-64206293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377018447	chr7:64206386-64206387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62455846	chr7:64206400-64206401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64205200-64205600	Enhancers	Aorta	Aorta
2	chr7:64205200-64205600	Enhancers	K562	blood
3	chr7:64205400-64205600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:64205600-64205800	Enhancers	Ovary	ovary
5	chr7:64205600-64213000	Weak transcription	Aorta	Aorta
6	chr7:64213000-64213400	Enhancers	Aorta	Aorta
7	chr7:64213000-64213800	Enhancers	K562	blood
8	chr7:64213400-64214400	Weak transcription	Aorta	Aorta
9	chr7:64214400-64214600	Enhancers	Aorta	Aorta
10	chr7:64216000-64216800	Enhancers	HSMMtube	muscle
11	chr7:64216200-64216600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:64216200-64217400	Enhancers	Dnd41	blood
13	chr7:64218000-64219200	Enhancers	Placenta	Placenta
14	chr7:64221000-64221400	Enhancers	K562	blood

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