Variant report

Variant	nsv523408
Chromosome Location	chr7:16413481-16438357
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
2	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
3	chr7:16430248..16433925-chr7:16458867..16461706,3	MCF-7	breast:
4	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
5	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
6	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:
7	chr7:16424852..16427430-chr7:16453245..16455678,2	K562	blood:
8	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
9	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
10	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
11	chr7:16425641..16427376-chr7:16459978..16461776,2	MCF-7	breast:
12	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
13	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
14	chr7:16413371..16417158-chr7:16459644..16462038,3	MCF-7	breast:
15	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
16	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
17	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
18	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
19	chr7:16430102..16432686-chr7:16459442..16462077,2	MCF-7	breast:
20	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
21	chr7:16423814..16426314-chr7:16443888..16446431,2	K562	blood:
22	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
23	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
24	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
25	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
26	chr7:16435726..16438390-chr7:16620305..16622722,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 1255 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1255 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10257504	chr7:16413481-16413482	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79394434	chr7:16413512-16413513	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183120087	chr7:16413528-16413529	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573502215	chr7:16413535-16413536	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115817244	chr7:16413555-16413556	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539795724	chr7:16413560-16413561	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551791381	chr7:16413572-16413573	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567129680	chr7:16413620-16413621	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186689341	chr7:16413645-16413646	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73306454	chr7:16413650-16413651	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574268324	chr7:16413665-16413666	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs386710739	chr7:16413760-16413761	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10258090	chr7:16413761-16413762	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565009264	chr7:16413769-16413770	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556990006	chr7:16413785-16413786	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74573550	chr7:16413811-16413812	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141342552	chr7:16413813-16413814	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111317677	chr7:16413828-16413829	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563913611	chr7:16413833-16413834	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145178251	chr7:16413834-16413835	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191098976	chr7:16413857-16413858	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561583014	chr7:16413881-16413882	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529022751	chr7:16413920-16413921	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117326829	chr7:16413925-16413926	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562956811	chr7:16413927-16413928	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139028059	chr7:16413951-16413952	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73306457	chr7:16413954-16413955	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566870954	chr7:16413970-16413971	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143029045	chr7:16413971-16413972	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148192529	chr7:16414010-16414011	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530133551	chr7:16414036-16414037	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549833189	chr7:16414044-16414045	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567879796	chr7:16414074-16414075	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538389008	chr7:16414092-16414093	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556788366	chr7:16414143-16414144	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560480120	chr7:16414173-16414174	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569728201	chr7:16414188-16414189	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539154840	chr7:16414195-16414196	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28581556	chr7:16414207-16414208	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572488377	chr7:16414236-16414237	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540154036	chr7:16414256-16414257	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376530490	chr7:16414271-16414272	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183611740	chr7:16414294-16414295	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573760460	chr7:16414349-16414350	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10268932	chr7:16414352-16414353	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544354162	chr7:16414357-16414358	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376684140	chr7:16414404-16414405	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377668176	chr7:16414587-16414588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552668966	chr7:16414619-16414620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141225101	chr7:16414634-16414635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16396000-16416000	Weak transcription	HSMMtube	muscle
2	chr7:16398000-16415400	Weak transcription	Left Ventricle	heart
3	chr7:16398000-16417400	Weak transcription	Gastric	stomach
4	chr7:16402200-16416000	Weak transcription	Liver	Liver
5	chr7:16403600-16415200	Weak transcription	Psoas Muscle	Psoas
6	chr7:16405000-16417400	Weak transcription	Right Ventricle	heart
7	chr7:16406000-16413600	Weak transcription	K562	blood
8	chr7:16407000-16414600	Weak transcription	Fetal Lung	lung
9	chr7:16410000-16414200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:16410000-16414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:16410400-16414200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:16410600-16415000	Weak transcription	Pancreas	Pancrea
13	chr7:16410600-16415400	Weak transcription	Esophagus	oesophagus
14	chr7:16410800-16413800	Weak transcription	Aorta	Aorta
15	chr7:16410800-16415000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:16410800-16415600	Weak transcription	Lung	lung
17	chr7:16410800-16418200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:16412600-16414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:16412600-16415600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:16412600-16427000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:16413000-16413800	Strong transcription	Ovary	ovary
22	chr7:16413400-16413800	Enhancers	Fetal Heart	heart
23	chr7:16413600-16415600	Strong transcription	K562	blood
24	chr7:16413800-16414400	ZNF genes & repeats	Aorta	Aorta
25	chr7:16413800-16414400	ZNF genes & repeats	Ovary	ovary
26	chr7:16414400-16415200	Weak transcription	Ovary	ovary
27	chr7:16414400-16425400	Weak transcription	Aorta	Aorta
28	chr7:16414600-16416400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:16415200-16415600	ZNF genes & repeats	Ovary	ovary
30	chr7:16415400-16415600	Enhancers	Esophagus	oesophagus
31	chr7:16415400-16416000	Strong transcription	Left Ventricle	heart
32	chr7:16415600-16415800	Enhancers	Fetal Heart	heart
33	chr7:16415600-16416800	Weak transcription	K562	blood
34	chr7:16415600-16423400	Weak transcription	Ovary	ovary
35	chr7:16416000-16417400	Weak transcription	Left Ventricle	heart
36	chr7:16416600-16417600	Enhancers	Stomach Mucosa	stomach
37	chr7:16416800-16417400	Enhancers	K562	blood
38	chr7:16417400-16417600	Enhancers	Gastric	stomach
39	chr7:16417400-16417600	Enhancers	Left Ventricle	heart
40	chr7:16417400-16417600	ZNF genes & repeats	Right Ventricle	heart
41	chr7:16417600-16436800	Weak transcription	Right Ventricle	heart
42	chr7:16423000-16423600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:16423000-16423800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:16423400-16424200	ZNF genes & repeats	Ovary	ovary
45	chr7:16423600-16423800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr7:16423600-16424000	ZNF genes & repeats	Fetal Lung	lung
47	chr7:16423800-16424400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr7:16423800-16425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:16424000-16425600	Weak transcription	Fetal Lung	lung
50	chr7:16425000-16425200	Enhancers	Stomach Mucosa	stomach

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