Variant report

Variant	nsv470188
Chromosome Location	chr7:26013958-26075094
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:25)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26012088..26013995-chr7:26018916..26021896,2	MCF-7	breast:
2	chr7:26035382..26036550-chr7:26101032..26101905,6	MCF-7	breast:
3	chr7:26034062..26036742-chr7:26049058..26051711,2	K562	blood:
4	chr7:25990709..25992651-chr7:26072086..26075062,2	MCF-7	breast:
5	chr7:26039507..26041159-chr7:26046905..26048859,2	MCF-7	breast:
6	chr7:26012088..26013995-chr7:26018916..26021896,2	MCF-7	breast:
7	chr7:26048553..26051389-chr7:26053656..26055381,2	K562	blood:
8	chr7:25989577..25991180-chr7:26014942..26017299,2	K562	blood:
9	chr7:26017997..26020642-chr7:26020861..26022607,2	K562	blood:
10	chr7:26044998..26045618-chr9:87815434..87816194,2	MCF-7	breast:
11	chr7:25933954..25935974-chr7:26016586..26018998,2	MCF-7	breast:
12	chr7:26048553..26051389-chr7:26053656..26055381,2	K562	blood:
13	chr7:26001248..26003021-chr7:26014968..26017941,2	K562	blood:
14	chr7:26049479..26051389-chr7:26053881..26055684,2	K562	blood:
15	chr7:26040752..26042589-chr7:26209168..26210697,2	K562	blood:
16	chr7:26049479..26051389-chr7:26053881..26055684,2	K562	blood:
17	chr7:26034062..26036742-chr7:26049058..26051711,2	K562	blood:
18	chr7:26035423..26036364-chr7:26100860..26101483,2	MCF-7	breast:
19	chr7:26052639..26055224-chr7:26239653..26241256,2	K562	blood:
20	chr7:26024108..26025764-chr7:26238840..26240758,2	MCF-7	breast:
21	chr7:26044346..26047065-chr7:26096452..26098804,2	MCF-7	breast:
22	chr7:26017997..26020642-chr7:26020861..26022607,2	K562	blood:
23	chr7:26039507..26041159-chr7:26046905..26048859,2	MCF-7	breast:
24	chr7:26014155..26016824-chr7:26226230..26228691,2	K562	blood:
25	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-9	chr7:26067688-26067844	l_3383_chr7:26064190-26136923_testes
2	lnc-HNRNPA2B1-9	chr7:26064191-26064959	l_3383_chr7:26064190-26136923_testes
3	lnc-HNRNPA2B1-3	chr7:26059124-26059168	NONHSAT119612
4	lnc-HNRNPA2B1-3	chr7:26059124-26059168	NONHSAT119611

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000199085	chromatin interactions

Extended variants
information (count: 1587 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548676113	chr7:26014943-26014944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567024550	chr7:26014948-26014949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529699888	chr7:26014957-26014958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549454730	chr7:26015072-26015073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113160351	chr7:26015088-26015089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569153314	chr7:26015118-26015119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538354200	chr7:26015119-26015120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73685527	chr7:26015141-26015142	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558199753	chr7:26015177-26015178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571872412	chr7:26015249-26015250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533947315	chr7:26015321-26015322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554170735	chr7:26015355-26015356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574075226	chr7:26015357-26015358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28537499	chr7:26015392-26015393	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139539980	chr7:26015404-26015405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576191976	chr7:26015442-26015443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144178027	chr7:26015486-26015487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570208743	chr7:26015510-26015511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61405107	chr7:26015516-26015517	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542977835	chr7:26015527-26015528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545770940	chr7:26015539-26015540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2391213	chr7:26015543-26015544	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145484428	chr7:26015583-26015584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193195660	chr7:26015584-26015585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369956094	chr7:26015597-26015598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549491422	chr7:26015599-26015600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58990043	chr7:26015616-26015617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397889712	chr7:26015617-26015618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201247010	chr7:26015625-26015626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563378122	chr7:26015626-26015627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531824710	chr7:26015627-26015628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183258607	chr7:26015750-26015751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571858628	chr7:26015771-26015772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531247035	chr7:26015802-26015803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6958870	chr7:26015963-26015964	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs150979610	chr7:26015966-26015967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189074142	chr7:26016125-26016126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193047912	chr7:26016137-26016138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28360688	chr7:26016138-26016139	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576454466	chr7:26016139-26016140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538458563	chr7:26016152-26016153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369322011	chr7:26016153-26016154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140810536	chr7:26016195-26016196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561654609	chr7:26016216-26016217	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527347092	chr7:26016304-26016305	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560825229	chr7:26016308-26016309	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574127466	chr7:26016342-26016343	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530313024	chr7:26016377-26016378	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184642536	chr7:26016421-26016422	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532195627	chr7:26016492-26016493	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26016200-26016600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:26017600-26017800	Enhancers	Fetal Muscle Leg	muscle
3	chr7:26018200-26018800	Enhancers	Fetal Brain Male	brain
4	chr7:26023000-26023200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:26023200-26024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:26024200-26026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:26024800-26025400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:26028000-26028800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:26028000-26029200	Enhancers	HepG2	liver
10	chr7:26028000-26029800	Enhancers	Fetal Intestine Large	intestine
11	chr7:26028000-26029800	Enhancers	Fetal Intestine Small	intestine
12	chr7:26028400-26029200	Enhancers	Fetal Kidney	kidney
13	chr7:26028400-26029800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:26028400-26030000	Enhancers	Fetal Lung	lung
15	chr7:26028600-26029200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:26028600-26029200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:26028600-26029200	Enhancers	Small Intestine	intestine
18	chr7:26028600-26029400	Enhancers	Liver	Liver
19	chr7:26028800-26029600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:26029000-26029200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:26029200-26034400	Weak transcription	HepG2	liver
22	chr7:26029600-26029800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:26029800-26034400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:26029800-26034600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:26034400-26035000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr7:26034400-26035000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:26034400-26035200	Enhancers	Pancreas	Pancrea
28	chr7:26034400-26036400	Enhancers	HepG2	liver
29	chr7:26034400-26036800	Enhancers	Fetal Intestine Small	intestine
30	chr7:26034400-26037000	Enhancers	Stomach Mucosa	stomach
31	chr7:26034600-26034800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:26034600-26035000	Enhancers	Gastric	stomach
33	chr7:26034600-26037200	Enhancers	Fetal Intestine Large	intestine
34	chr7:26034800-26035400	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:26035000-26035800	Weak transcription	Gastric	stomach
36	chr7:26035200-26035800	Weak transcription	Pancreas	Pancrea
37	chr7:26035200-26036400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:26035400-26035800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:26035800-26036800	Enhancers	Small Intestine	intestine
40	chr7:26035800-26037000	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:26035800-26037000	Enhancers	Gastric	stomach
42	chr7:26035800-26037600	Enhancers	Pancreas	Pancrea
43	chr7:26036400-26040800	Weak transcription	HepG2	liver
44	chr7:26036800-26041000	Weak transcription	Fetal Intestine Small	intestine
45	chr7:26036800-26043600	Weak transcription	Right Atrium	heart
46	chr7:26037000-26041000	Weak transcription	Gastric	stomach
47	chr7:26037000-26041000	Weak transcription	Stomach Mucosa	stomach
48	chr7:26037000-26041600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:26037200-26041000	Weak transcription	Fetal Intestine Large	intestine
50	chr7:26037600-26041000	Weak transcription	Pancreas	Pancrea

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