Variant report

Variant	nsv971191
Chromosome Location	chr7:5148856-5172231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:489)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:5172210-5172484	K562	blood:	n/a	chr7:5172378-5172389
2	CEBPB	chr7:5153351-5153478	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:5151428-5151551	A549	lung:	n/a	n/a
4	CTCF	chr7:5166370-5166527	H1-hESC	embryonic stem cell:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
5	CTCF	chr7:5169353-5169429	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr7:5166300-5166450	HEK293	kidney:	n/a	chr7:5166435-5166448
7	CTCF	chr7:5166560-5166710	GM12870	blood:	n/a	n/a
8	CTCF	chr7:5166432-5166505	HepG2	liver:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
9	CTCF	chr7:5171957-5172031	GM10248	blood:	n/a	n/a
10	CTCF	chr7:5166320-5166470	HepG2	liver:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
11	CTCF	chr7:5166340-5166490	MCF-7	breast:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
12	CTCF	chr7:5166440-5166590	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr7:5166540-5166690	HEK293	kidney:	n/a	n/a
14	CTCF	chr7:5166402-5166515	MCF-7	breast:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
15	CTCF	chr7:5166405-5166487	MCF-7	breast:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
16	CTCF	chr7:5166400-5166550	GM12873	blood:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
17	CTCF	chr7:5159294-5159382	GM10248	blood:	n/a	n/a
18	CTCF	chr7:5166420-5166570	Caco-2	colon:	n/a	chr7:5166433-5166451 chr7:5166435-5166448
19	HMGN3	chr7:5157086-5157286	K562	blood:	n/a	n/a
20	MAFK	chr7:5166495-5166577	HepG2	liver:	n/a	chr7:5166537-5166553
21	MYC	chr7:5170842-5170942	GM12878	blood:	n/a	n/a
22	PAX5	chr7:5160929-5161342	GM12878	blood:	n/a	n/a
23	PAX5	chr7:5160876-5161391	GM12878	blood:	n/a	n/a
24	PAX5	chr7:5160993-5161247	GM12878	blood:	n/a	n/a
25	PAX5	chr7:5161057-5161214	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:5160763-5160902	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:5167192-5167272	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:5167256-5167328	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:5160772-5160789	MCF-7	breast:	n/a	n/a
30	POLR2A	chr7:5161220-5161275	K562	blood:	n/a	n/a
31	POLR2A	chr7:5167296-5167311	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:5160841-5160875	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:5161290-5161372	K562	blood:	n/a	n/a
34	POLR2A	chr7:5160889-5160895	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:5160923-5160928	MCF-7	breast:	n/a	n/a
36	POLR2A	chr7:5160836-5160945	K562	blood:	n/a	n/a
37	POLR2A	chr7:5161383-5161567	K562	blood:	n/a	n/a
38	POLR2A	chr7:5161634-5161677	K562	blood:	n/a	n/a
39	TBP	chr7:5171889-5172063	K562	blood:	n/a	n/a
40	USF1	chr7:5161554-5161774	HepG2	liver:	n/a	chr7:5161665-5161676
41	USF1	chr7:5161598-5161729	HepG2	liver:	n/a	chr7:5161665-5161676
42	ZNF384	chr7:5159055-5159411	K562	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5161246-5161296	NB4	blood:	n/a
2	chr7:5161246-5161296	NB4	blood:	n/a
3	chr7:5157367-5157417	GM12891	blood:	n/a
4	chr7:5161531-5161581	HUVEC	blood vessel:	n/a
5	chr7:5157850-5157900	LNCaP	prostate:	n/a
6	chr7:5161531-5161581	MCF10A-Er-Src	breast:	n/a
7	chr7:5156928-5156978	HRCEpiC	kidney:	n/a
8	chr7:5161165-5161215	HRPEpiC	eye:	n/a
9	chr7:5156928-5156978	SK-N-SH	brain:	n/a
10	chr7:5156928-5156978	AG09319	gingival:	n/a
11	chr7:5164610-5164660	HIPEpiC	eye:	n/a
12	chr7:5161246-5161296	A549	lung:	n/a
13	chr7:5157367-5157417	NHDF-neo	bronchial:	n/a
14	chr7:5160378-5160428	Hepatocyte	liver:	n/a
15	chr7:5156928-5156978	NB4	blood:	n/a
16	chr7:5160378-5160428	HCM	heart:	n/a
17	chr7:5161246-5161296	GM12878	blood:	n/a
18	chr7:5157850-5157900	CMK	blood:	n/a
19	chr7:5156928-5156978	ProgFib	skin:	n/a
20	chr7:5157850-5157900	GM12891	blood:	n/a
21	chr7:5161165-5161215	HCT-116	colon:	n/a
22	chr7:5156928-5156978	SK-N-MC	brain:	n/a
23	chr7:5156928-5156978	HCF	heart:	n/a
24	chr7:5156928-5156978	NHDF-neo	bronchial:	n/a
25	chr7:5161531-5161581	HEEpiC	esophagus:	n/a
26	chr7:5157850-5157900	IMR90	lung:	fetal
27	chr7:5156928-5156978	GM12878	blood:	n/a
28	chr7:5157850-5157900	AG04449	skin:	fetal
29	chr7:5161246-5161296	NT2-D1	testis:	n/a
30	chr7:5160378-5160428	H1-hESC	embryonic stem cell:	embryo
31	chr7:5161246-5161296	BJ	skin:	n/a
32	chr7:5161531-5161581	A549	lung:	n/a
33	chr7:5157850-5157900	HepG2	liver:	n/a
34	chr7:5156928-5156978	HL-60	blood:	n/a
35	chr7:5161531-5161581	Hela-S3	cervix:	n/a
36	chr7:5161531-5161581	RPTEC	kidney:	n/a
37	chr7:5157367-5157417	MCF10A-Er-Src	breast:	n/a
38	chr7:5157367-5157417	IMR90	lung:	fetal
39	chr7:5160378-5160428	AG09309	skin:	n/a
40	chr7:5161165-5161215	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:5164610-5164660	NHDF-neo	bronchial:	n/a
42	chr7:5157850-5157900	PFSK-1	brain:	n/a
43	chr7:5164610-5164660	PANC-1	pancreas:	n/a
44	chr7:5157367-5157417	RPTEC	kidney:	n/a
45	chr7:5157367-5157417	HCM	heart:	n/a
46	chr7:5160378-5160428	GM06990	blood:	n/a
47	chr7:5156928-5156978	GM12891	blood:	n/a
48	chr7:5157850-5157900	Hepatocyte	liver:	n/a
49	chr7:5157367-5157417	MCF-7	breast:	n/a
50	chr7:5160378-5160428	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5155461..5157996-chr7:5164496..5167158,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBAK-3	chr7:5153179-5153564	NONHSAT118902
2	lnc-RBAK-3	chr7:5153767-5154802	NONHSAT118902
3	lnc-MMD2-3	chr7:5172079-5172120	NR_034163
4	lnc-MMD2-3	chr7:5167248-5167374	NR_034163
5	lnc-MMD2-3	chr7:5166461-5166556	NR_034163
6	lnc-MMD2-3	chr7:5160941-5161854	NR_034163

No data

Variant related genes	Relation type
ZNF890P	TF binding region
OR10AH1P	TF binding region
ZNF890P	CpG island
OR10AH1P	CpG island
ENSG00000272595	chromatin interactions

Extended variants
information (count: 1180 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566565217	chr7:5152627-5152628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185674049	chr7:5152691-5152692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189997228	chr7:5152726-5152727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116432475	chr7:5152739-5152740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538944345	chr7:5152762-5152763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374273422	chr7:5152777-5152778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556802781	chr7:5152779-5152780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181630602	chr7:5152782-5152783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549782489	chr7:5152787-5152788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77372130	chr7:5152788-5152789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568719114	chr7:5152899-5152900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535441367	chr7:5152907-5152908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112263996	chr7:5152912-5152913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184036021	chr7:5152947-5152948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540027604	chr7:5152954-5152955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558034586	chr7:5152955-5152956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576697028	chr7:5152963-5152964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188428591	chr7:5153009-5153010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149232231	chr7:5153035-5153036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80034008	chr7:5153048-5153049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574527832	chr7:5153058-5153059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553238917	chr7:5153072-5153073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13247771	chr7:5153083-5153084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181103494	chr7:5153086-5153087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185197040	chr7:5153087-5153088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189666527	chr7:5153103-5153104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13247780	chr7:5153115-5153116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564095906	chr7:5153130-5153131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531510295	chr7:5153131-5153132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13233953	chr7:5153135-5153136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12672287	chr7:5153141-5153142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182342765	chr7:5153153-5153154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139522050	chr7:5153154-5153155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566174534	chr7:5153161-5153162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574070719	chr7:5153166-5153167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114582075	chr7:5153169-5153170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187208684	chr7:5153175-5153176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576595083	chr7:5153176-5153177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541101669	chr7:5153217-5153218	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs143504123	chr7:5153241-5153242	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs191628489	chr7:5153250-5153251	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574339936	chr7:5153276-5153277	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs111366183	chr7:5153278-5153279	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs6463266	chr7:5153283-5153284	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572125269	chr7:5153349-5153350	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs545606435	chr7:5153350-5153351	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs147179560	chr7:5153381-5153382	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs183542618	chr7:5153387-5153388	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs117920046	chr7:5153426-5153427	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs185791848	chr7:5153429-5153430	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5152600-5156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5155800-5156000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:5156200-5156400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:5156400-5157600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:5156600-5158000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:5157600-5170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:5164200-5167800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:5165200-5168000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:5165800-5166000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr7:5166400-5167600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:5167000-5168800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:5167600-5167800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:5167600-5172200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:5167800-5168800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:5167800-5171800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:5167800-5172400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:5168000-5171400	Enhancers	Primary T cells from cord blood	blood
18	chr7:5168000-5172400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:5168200-5170400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:5168800-5169800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:5168800-5170200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:5168800-5170800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:5168800-5171400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:5168800-5171400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:5168800-5172200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:5168800-5172400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:5169400-5172400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:5170400-5171200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:5171200-5171400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:5171400-5180400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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