Variant report

Variant	nsv608319
Chromosome Location	chr7:119113888-119161743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:119122299-119123000	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr7:119122424-119122604	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:119139694-119139733	K562	blood:	n/a	chr7:119139713-119139722
4	CEBPB	chr7:119158599-119158739	HepG2	liver:	n/a	chr7:119158656-119158667
5	CEBPB	chr7:119152429-119152660	HepG2	liver:	n/a	chr7:119152514-119152525
6	CTCF	chr7:119122380-119122530	HL-60	blood:	n/a	n/a
7	CTCF	chr7:119122400-119122550	HPF	lung:	n/a	n/a
8	CTCF	chr7:119122073-119122819	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr7:119122340-119122490	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr7:119122420-119122570	HVMF	connective:	n/a	n/a
11	CTCF	chr7:119122400-119122550	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:119122407-119122543	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:119122440-119122590	Caco-2	colon:	n/a	n/a
14	CTCF	chr7:119122323-119122553	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:119122358-119122512	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:119122420-119122570	A549	lung:	n/a	n/a
17	CTCF	chr7:119122380-119122530	GM12871	blood:	n/a	n/a
18	CTCF	chr7:119122415-119122526	GM19239	blood:	n/a	n/a
19	CTCF	chr7:119122350-119122535	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:119122320-119122470	GM12875	blood:	n/a	n/a
21	CTCF	chr7:119122340-119122490	GM12864	blood:	n/a	n/a
22	CTCF	chr7:119122380-119122530	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr7:119122368-119122533	GM19240	blood:	n/a	n/a
24	CTCF	chr7:119122340-119122490	A549	lung:	n/a	n/a
25	CTCF	chr7:119122298-119122617	K562	blood:	n/a	n/a
26	CTCF	chr7:119122400-119122550	GM12870	blood:	n/a	n/a
27	CTCF	chr7:119122360-119122510	GM12868	blood:	n/a	n/a
28	CTCF	chr7:119122440-119122590	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr7:119122100-119122250	GM12871	blood:	n/a	n/a
30	CTCF	chr7:119122420-119122570	GM12875	blood:	n/a	n/a
31	CTCF	chr7:119122478-119122561	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr7:119122346-119122588	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:119122400-119122550	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr7:119122239-119122670	K562	blood:	n/a	n/a
35	CTCF	chr7:119122360-119122510	K562	blood:	n/a	n/a
36	CTCF	chr7:119122350-119122525	GM19238	blood:	n/a	n/a
37	CTCF	chr7:119122197-119122650	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:119122180-119122330	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr7:119122380-119122530	HepG2	liver:	n/a	n/a
40	CTCF	chr7:119122350-119122558	Medullo	brain:	n/a	n/a
41	CTCF	chr7:119122380-119122530	K562	blood:	n/a	n/a
42	CTCF	chr7:119122265-119122665	GM12878	blood:	n/a	n/a
43	CTCF	chr7:119122440-119122590	HEK293	kidney:	n/a	n/a
44	CTCF	chr7:119122419-119122540	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:119122400-119122550	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr7:119122358-119122584	GM12878	blood:	n/a	n/a
47	CTCF	chr7:119122400-119122550	GM12872	blood:	n/a	n/a
48	CTCF	chr7:119122381-119122554	GM10248	blood:	n/a	n/a
49	CTCF	chr7:119122340-119122490	GM12865	blood:	n/a	n/a
50	CTCF	chr7:119122358-119122571	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:119121235-119121285	HCM	heart:	n/a
2	chr7:119121235-119121285	HNPCEpiC	eye:	n/a
3	chr7:119121235-119121285	AoSMC	blood vessel:	n/a
4	chr7:119121235-119121285	NHDF-neo	bronchial:	n/a
5	chr7:119121235-119121285	PANC-1	pancreas:	n/a
6	chr7:119121235-119121285	Jurkat	blood:	n/a
7	chr7:119121235-119121285	AG04449	skin:	fetal
8	chr7:119121235-119121285	HEK293	kidney:	embryo
9	chr7:119121235-119121285	HEEpiC	esophagus:	n/a
10	chr7:119121235-119121285	HAEpiC	amniotic membrane:	n/a
11	chr7:119121235-119121285	GM12892	blood:	n/a
12	chr7:119121235-119121285	GM12891	blood:	n/a
13	chr7:119121235-119121285	CMK	blood:	n/a
14	chr7:119121235-119121285	AG04450	lung:	fetal
15	chr7:119121235-119121285	GM19239	blood:	n/a
16	chr7:119121235-119121285	Hepatocyte	liver:	n/a
17	chr7:119121235-119121285	SAEC	small airway:	n/a
18	chr7:119121235-119121285	U87	brain:	n/a
19	chr7:119121235-119121285	H1-hESC	embryonic stem cell:	embryo
20	chr7:119121235-119121285	AG09309	skin:	n/a
21	chr7:119121235-119121285	ProgFib	skin:	n/a
22	chr7:119121235-119121285	PrEC	prostate:	n/a
23	chr7:119121235-119121285	SK-N-SH	brain:	n/a
24	chr7:119121235-119121285	HCT-116	colon:	n/a
25	chr7:119121235-119121285	HCPEpiC	choroid plexus:	n/a
26	chr7:119121235-119121285	HRPEpiC	eye:	n/a
27	chr7:119121235-119121285	NHBE	bronchial:	n/a
28	chr7:119121235-119121285	NB4	blood:	n/a
29	chr7:119121235-119121285	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:119121235-119121285	GM12878	blood:	n/a
31	chr7:119121235-119121285	Caco-2	colon:	n/a
32	chr7:119121235-119121285	MCF-7	breast:	n/a
33	chr7:119121235-119121285	HCF	heart:	n/a
34	chr7:119121235-119121285	HRCEpiC	kidney:	n/a
35	chr7:119121235-119121285	T-47D	breast:	n/a
36	chr7:119121235-119121285	PFSK-1	brain:	n/a
37	chr7:119121235-119121285	HRE	kidney:	n/a
38	chr7:119121235-119121285	NH-A	brain:	n/a
39	chr7:119121235-119121285	K562	blood:	n/a
40	chr7:119121235-119121285	SK-N-SH_RA	brain:	n/a
41	chr7:119121235-119121285	LNCaP	prostate:	n/a
42	chr7:119121235-119121285	NT2-D1	testis:	n/a
43	chr7:119121235-119121285	SKMC	muscle:	n/a
44	chr7:119121235-119121285	GM06990	blood:	n/a
45	chr7:119121235-119121285	SK-N-MC	brain:	n/a
46	chr7:119121235-119121285	IMR90	lung:	fetal
47	chr7:119121235-119121285	MCF10A-Er-Src	breast:	n/a
48	chr7:119121235-119121285	HepG2	liver:	n/a
49	chr7:119121235-119121285	HMEC	breast:	n/a
50	chr7:119121235-119121285	AG10803	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119114137..119115777-chr7:119118248..119120055,2	K562	blood:
2	chr7:119119681..119121337-chr7:119126080..119128108,2	K562	blood:
3	chr7:119119277..119121222-chr7:119136610..119138824,2	K562	blood:
4	chr7:119119277..119121222-chr7:119136610..119138824,2	K562	blood:
5	chr7:119119681..119121337-chr7:119126080..119128108,2	K562	blood:
6	chr6:81998528..81999232-chr7:119153061..119154054,2	MCF-7	breast:
7	chr7:119114137..119115777-chr7:119118248..119120055,2	K562	blood:
8	chr7:119090133..119091662-chr7:119125393..119128092,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263692	TF binding region
ENSG00000263692	CpG island

Extended variants
information (count: 342 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192339449	chr7:119117698-119117699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532857600	chr7:119117725-119117726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546054025	chr7:119117736-119117737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563103858	chr7:119117743-119117744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71567402	chr7:119117751-119117752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555430602	chr7:119117764-119117765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115910320	chr7:119117775-119117776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550683372	chr7:119117791-119117792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79895965	chr7:119117792-119117793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567412451	chr7:119117838-119117839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529690754	chr7:119117929-119117930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368238017	chr7:119117931-119117932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546606637	chr7:119118000-119118001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184762291	chr7:119118017-119118018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372974104	chr7:119118075-119118076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538944493	chr7:119118219-119118220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558420283	chr7:119118223-119118224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201097048	chr7:119118310-119118311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568720776	chr7:119118311-119118312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75400429	chr7:119118339-119118340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554621680	chr7:119118360-119118361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541590915	chr7:119118370-119118371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367756629	chr7:119118453-119118454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10231302	chr7:119118468-119118469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554160268	chr7:119118482-119118483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188046623	chr7:119118614-119118615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546487920	chr7:119118627-119118628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79908076	chr7:119118692-119118693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574832657	chr7:119118703-119118704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10231611	chr7:119118713-119118714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377626279	chr7:119118737-119118738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142225724	chr7:119118747-119118748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191197604	chr7:119118757-119118758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529810697	chr7:119118782-119118783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369116877	chr7:119118792-119118793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184612618	chr7:119118810-119118811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74302536	chr7:119118815-119118816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544135281	chr7:119118865-119118866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151027484	chr7:119118959-119118960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563625557	chr7:119118967-119118968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189529476	chr7:119118992-119118993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10261730	chr7:119119034-119119035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552509841	chr7:119119064-119119065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537635741	chr7:119119092-119119093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181591537	chr7:119119142-119119143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568189233	chr7:119119154-119119155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564431374	chr7:119119163-119119164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79080065	chr7:119119198-119119199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553842797	chr7:119119205-119119206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528539102	chr7:119119209-119119210	Weak transcription	n/a	n/a	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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	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
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119117600-119118000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:119118000-119122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:119120800-119121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:119122000-119122400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:119122000-119122400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:119122000-119123000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:119122000-119123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:119122200-119122400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:119122200-119122800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:119122200-119123000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:119122200-119123000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:119122200-119123000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:119122200-119123000	Enhancers	Liver	Liver
14	chr7:119122200-119123200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:119123000-119123400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:119133400-119134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:119134400-119135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:119135400-119135800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:119154400-119155600	Enhancers	Liver	Liver

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