Variant report

Variant	nsv887465
Chromosome Location	chr7:7036939-7097895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7081880..7084410-chr7:7088797..7091542,2	K562	blood:
2	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:
3	chr7:7074008..7077103-chr7:7078870..7082330,3	K562	blood:
4	chr7:7084346..7086372-chr7:7102099..7103966,2	K562	blood:
5	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:
6	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
7	chr7:7082115..7084689-chr7:7085988..7087819,2	K562	blood:
8	chr7:7074211..7076243-chr7:7083711..7086454,2	K562	blood:
9	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
10	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
11	chr7:7081880..7084410-chr7:7088797..7091542,2	K562	blood:
12	chr7:7071081..7073048-chr7:7074220..7077008,2	K562	blood:
13	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
14	chr7:7075155..7077103-chr7:7078870..7080838,2	K562	blood:
15	chr7:7074211..7076243-chr7:7083711..7086454,2	K562	blood:
16	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
17	chr7:7082115..7084689-chr7:7085988..7087819,2	K562	blood:

No data

Extended variants
information (count: 2554 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2554 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10269399	chr7:7036939-7036940	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148775107	chr7:7036977-7036978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10223971	chr7:7036985-7036986	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530034904	chr7:7036986-7036987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189627970	chr7:7037084-7037085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370150444	chr7:7037085-7037086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560596085	chr7:7037089-7037090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10224105	chr7:7037090-7037091	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180672216	chr7:7037091-7037092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552320177	chr7:7037110-7037111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139784340	chr7:7037112-7037113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570061318	chr7:7037114-7037115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144497282	chr7:7037120-7037121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79037849	chr7:7037187-7037188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549564615	chr7:7037206-7037207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377576159	chr7:7037226-7037227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369905041	chr7:7037238-7037239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535143047	chr7:7037284-7037285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553534751	chr7:7037298-7037299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571757131	chr7:7037308-7037309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370736219	chr7:7037327-7037328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185985322	chr7:7037329-7037330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10276023	chr7:7037349-7037350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576411700	chr7:7037350-7037351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552980103	chr7:7037460-7037461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34344191	chr7:7037461-7037462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10257668	chr7:7037478-7037479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543315195	chr7:7037494-7037495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555558577	chr7:7037516-7037517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573780979	chr7:7037557-7037558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10273106	chr7:7037563-7037564	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559062062	chr7:7037649-7037650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75768353	chr7:7037662-7037663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76443144	chr7:7037665-7037666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79907185	chr7:7037673-7037674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145779038	chr7:7037677-7037678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544608318	chr7:7037705-7037706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77920410	chr7:7037706-7037707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562904923	chr7:7037753-7037754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200747977	chr7:7037755-7037756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531252431	chr7:7037783-7037784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549386087	chr7:7037795-7037796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567929893	chr7:7037798-7037799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528716711	chr7:7037811-7037812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78012907	chr7:7037812-7037813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61675106	chr7:7037813-7037814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142640200	chr7:7037830-7037831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367579999	chr7:7037833-7037834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62452557	chr7:7037855-7037856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147611680	chr7:7037857-7037858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7033600-7038600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:7035600-7041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:7038200-7039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:7038600-7040200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr7:7039000-7039200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr7:7039200-7042200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:7040200-7040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:7040200-7050800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:7040400-7040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:7040600-7040800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:7040600-7041000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:7040600-7042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:7040800-7041000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:7040800-7041000	Enhancers	K562	blood
17	chr7:7040800-7042200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:7040800-7042800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:7040800-7043200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:7040800-7043600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:7040800-7043600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:7041000-7041800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:7041000-7043600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:7041000-7045000	Weak transcription	K562	blood
25	chr7:7041200-7042800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:7041200-7043000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:7041600-7043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:7041800-7043400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:7042200-7042600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:7042200-7042600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:7042200-7043200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:7042600-7043200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:7043200-7051200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:7043600-7044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:7044800-7045000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:7045000-7045400	Enhancers	K562	blood
37	chr7:7050000-7051600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:7050000-7053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:7050800-7051800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr7:7050800-7052200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:7050800-7052600	Strong transcription	Fetal Intestine Small	intestine
42	chr7:7051200-7052400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:7051600-7051800	Bivalent/Poised TSS	A549	lung
44	chr7:7051600-7052200	Strong transcription	Fetal Intestine Large	intestine
45	chr7:7051600-7053800	Enhancers	K562	blood
46	chr7:7051800-7052600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:7052200-7052600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:7052200-7053800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:7052400-7060600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:7052600-7052800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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