Variant report

Variant	nsv607313
Chromosome Location	chr7:64298329-64300612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:64300466-64300504	K562	blood:	n/a	n/a
2	CBX3	chr7:64299051-64299401	K562	blood:	n/a	n/a
3	CTCF	chr7:64298432-64298434	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr7:64298870-64298925	Kidney_OC	kidney:	n/a	n/a
5	HCFC1	chr7:64299261-64299298	K562	blood:	n/a	n/a
6	HEY1	chr7:64299336-64300444	K562	blood:	n/a	n/a
7	HEY1	chr7:64295999-64300505	K562	blood:	n/a	n/a
8	HEY1	chr7:64298614-64299168	K562	blood:	n/a	n/a
9	IRF1	chr7:64299265-64299290	K562	blood:	n/a	n/a
10	IRF1	chr7:64299254-64299293	K562	blood:	n/a	n/a
11	MAFF	chr7:64300304-64300658	K562	blood:	n/a	chr7:64300468-64300486
12	MAFF	chr7:64300303-64300663	HepG2	liver:	n/a	chr7:64300468-64300486
13	MAFK	chr7:64300296-64300665	HepG2	liver:	n/a	chr7:64300470-64300485
14	MAFK	chr7:64300303-64300667	IMR90	lung:	n/a	chr7:64300470-64300485
15	MAFK	chr7:64300306-64300651	HepG2	liver:	n/a	chr7:64300470-64300485
16	MAFK	chr7:64300306-64300654	K562	blood:	n/a	chr7:64300470-64300485
17	MAFK	chr7:64300312-64300619	Hela-S3	cervix:	n/a	chr7:64300470-64300485
18	MAFK	chr7:64300311-64300630	H1-hESC	embryonic stem cell:	n/a	chr7:64300470-64300485
19	MAZ	chr7:64299258-64299300	K562	blood:	n/a	n/a
20	MYC	chr7:64299131-64299301	K562	blood:	n/a	n/a
21	POLR2A	chr7:64298677-64298681	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:64299162-64299357	K562	blood:	n/a	n/a
23	POLR2A	chr7:64299257-64299448	K562	blood:	n/a	n/a
24	POLR2A	chr7:64299187-64299396	K562	blood:	n/a	n/a
25	POLR2A	chr7:64298806-64298827	Gliobla	brain:	n/a	n/a
26	POLR2A	chr7:64298714-64298715	A549	lung:	n/a	n/a
27	POLR2A	chr7:64299716-64299727	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:64299181-64299336	K562	blood:	n/a	n/a
29	POLR2A	chr7:64298742-64298785	A549	lung:	n/a	n/a
30	POLR2A	chr7:64299184-64299330	K562	blood:	n/a	n/a
31	POLR2A	chr7:64298468-64300423	K562	blood:	n/a	n/a
32	TAF1	chr7:64299120-64299358	K562	blood:	n/a	n/a
33	TAF1	chr7:64299105-64299348	K562	blood:	n/a	n/a
34	TBP	chr7:64299095-64299461	K562	blood:	n/a	n/a
35	TEAD4	chr7:64299017-64299355	K562	blood:	n/a	n/a
36	TEAD4	chr7:64299101-64299345	K562	blood:	n/a	n/a
37	YY1	chr7:64299030-64299415	H1-hESC	embryonic stem cell:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
38	YY1	chr7:64299188-64299304	K562	blood:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
39	YY1	chr7:64299081-64299463	K562	blood:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
40	YY1	chr7:64299109-64299385	K562	blood:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
41	YY1	chr7:64299173-64299443	K562	blood:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
42	YY1	chr7:64299196-64299396	GM12878	blood:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
43	YY1	chr7:64299134-64299319	HepG2	liver:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
44	YY1	chr7:64299084-64299345	H1-hESC	embryonic stem cell:	n/a	chr7:64299238-64299250 chr7:64299207-64299219
45	ZC3H11A	chr7:64299087-64299458	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64299791-64299841	HMEC	breast:	n/a
2	chr7:64299791-64299841	SK-N-SH_RA	brain:	n/a
3	chr7:64300061-64300111	HepG2	liver:	n/a
4	chr7:64299791-64299841	AG04449	skin:	fetal
5	chr7:64300061-64300111	SAEC	small airway:	n/a
6	chr7:64298676-64298726	SAEC	small airway:	n/a
7	chr7:64300431-64300481	HCPEpiC	choroid plexus:	n/a
8	chr7:64300431-64300481	HNPCEpiC	eye:	n/a
9	chr7:64299791-64299841	HEK293	kidney:	embryo
10	chr7:64298676-64298726	HL-60	blood:	n/a
11	chr7:64300431-64300481	SK-N-SH_RA	brain:	n/a
12	chr7:64300431-64300481	GM12891	blood:	n/a
13	chr7:64298676-64298726	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:64300061-64300111	SK-N-MC	brain:	n/a
15	chr7:64300431-64300481	SAEC	small airway:	n/a
16	chr7:64300431-64300481	HL-60	blood:	n/a
17	chr7:64298676-64298726	NT2-D1	testis:	n/a
18	chr7:64300431-64300481	HRPEpiC	eye:	n/a
19	chr7:64298676-64298726	GM12891	blood:	n/a
20	chr7:64298676-64298726	K562	blood:	n/a
21	chr7:64298676-64298726	HepG2	liver:	n/a
22	chr7:64300061-64300111	HMEC	breast:	n/a
23	chr7:64299791-64299841	HAEpiC	amniotic membrane:	n/a
24	chr7:64299791-64299841	Jurkat	blood:	n/a
25	chr7:64298676-64298726	ovcar-3	ovarian:	n/a
26	chr7:64298676-64298726	U87	brain:	n/a
27	chr7:64299791-64299841	GM19239	blood:	n/a
28	chr7:64300061-64300111	GM12878	blood:	n/a
29	chr7:64300431-64300481	SKMC	muscle:	n/a
30	chr7:64299791-64299841	HNPCEpiC	eye:	n/a
31	chr7:64298676-64298726	CMK	blood:	n/a
32	chr7:64298676-64298726	AoSMC	blood vessel:	n/a
33	chr7:64300061-64300111	RPTEC	kidney:	n/a
34	chr7:64300431-64300481	HRE	kidney:	n/a
35	chr7:64300061-64300111	AoSMC	blood vessel:	n/a
36	chr7:64300061-64300111	MCF-7	breast:	n/a
37	chr7:64298676-64298726	HCPEpiC	choroid plexus:	n/a
38	chr7:64300431-64300481	HCT-116	colon:	n/a
39	chr7:64300431-64300481	AG04450	lung:	fetal
40	chr7:64299791-64299841	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:64298676-64298726	PANC-1	pancreas:	n/a
42	chr7:64300061-64300111	BJ	skin:	n/a
43	chr7:64300061-64300111	Caco-2	colon:	n/a
44	chr7:64300431-64300481	H1-hESC	embryonic stem cell:	embryo
45	chr7:64299791-64299841	Hepatocyte	liver:	n/a
46	chr7:64300431-64300481	HRCEpiC	kidney:	n/a
47	chr7:64300431-64300481	NB4	blood:	n/a
48	chr7:64299791-64299841	GM06990	blood:	n/a
49	chr7:64299791-64299841	HEEpiC	esophagus:	n/a
50	chr7:64298676-64298726	NH-A	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:
2	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
3	chr7:64299266..64299795-chr7:153109659..153110240,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234338	CpG island
ENSG00000234722	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10251093	chr7:64298329-64298330	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10251096	chr7:64298346-64298347	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10266341	chr7:64298377-64298378	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189859433	chr7:64298378-64298379	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10949948	chr7:64298404-64298405	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534047778	chr7:64298433-64298434	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147636550	chr7:64298478-64298479	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558642924	chr7:64298490-64298491	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181178390	chr7:64298500-64298501	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184542071	chr7:64298504-64298505	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539049101	chr7:64298519-64298520	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556152909	chr7:64298525-64298526	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs4718133	chr7:64298527-64298528	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs60823206	chr7:64298533-64298534	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541533868	chr7:64298547-64298548	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10251501	chr7:64298579-64298580	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386713947	chr7:64298586-64298587	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4718134	chr7:64298588-64298589	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs61734886	chr7:64298622-64298623	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61731272	chr7:64298653-64298654	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564607156	chr7:64298663-64298664	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188291605	chr7:64298676-64298677	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543447764	chr7:64298677-64298678	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180769357	chr7:64298680-64298681	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529368932	chr7:64298681-64298682	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4718135	chr7:64298755-64298756	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
27	rs568235192	chr7:64298763-64298764	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527512266	chr7:64298780-64298781	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60410485	chr7:64298793-64298794	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147377954	chr7:64298794-64298795	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547605384	chr7:64298808-64298809	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186450701	chr7:64298830-64298831	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10251806	chr7:64298845-64298846	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs549324632	chr7:64298846-64298847	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112327513	chr7:64298850-64298851	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535148854	chr7:64298870-64298871	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576439157	chr7:64298884-64298885	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4718136	chr7:64298885-64298886	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572137697	chr7:64298969-64298970	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181580723	chr7:64298972-64298973	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544140708	chr7:64298973-64298974	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563780350	chr7:64298996-64298997	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530127538	chr7:64299004-64299005	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544108047	chr7:64299034-64299035	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375876667	chr7:64299035-64299036	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376499692	chr7:64299053-64299054	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369109335	chr7:64299056-64299057	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574107743	chr7:64299075-64299076	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373352042	chr7:64299078-64299079	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186537891	chr7:64299091-64299092	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:64284800-64299800	Weak transcription	Pancreas	Pancrea
3	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:64299600-64300200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:64299800-64300000	ZNF genes & repeats	Pancreas	Pancrea
6	chr7:64299800-64300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:64300000-64300200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:64300000-64301200	Weak transcription	Pancreas	Pancrea
9	chr7:64300200-64301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:64300200-64310000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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