Variant report

Variant	nsv608152
Chromosome Location	chr7:110488367-110520903
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110486220..110490301-chr7:110491105..110494112,5	K562	blood:
2	chr7:110488051..110490301-chr7:110491279..110492842,2	K562	blood:
3	chr7:110481885..110484031-chr7:110503607..110505454,2	K562	blood:
4	chr7:110494179..110496543-chr7:110498006..110500004,2	MCF-7	breast:
5	chr7:110494179..110496543-chr7:110498006..110500004,2	MCF-7	breast:
6	chr7:110491238..110492962-chr7:110493024..110495999,2	MCF-7	breast:
7	chr7:110506997..110509461-chr7:110511258..110513064,2	K562	blood:
8	chr7:110514426..110517089-chr7:110544753..110547740,2	K562	blood:
9	chr7:110506997..110509461-chr7:110511258..110513064,2	K562	blood:
10	chr7:110505153..110508497-chr7:110509523..110512758,4	K562	blood:
11	chr7:110505153..110508497-chr7:110509523..110512758,4	K562	blood:
12	chr7:110491238..110492962-chr7:110493024..110495999,2	MCF-7	breast:
13	chr7:110486220..110490301-chr7:110491105..110494112,5	K562	blood:
14	chr7:110488051..110490301-chr7:110491279..110492842,2	K562	blood:
15	chr7:110497630..110499420-chr7:110504943..110507709,2	K562	blood:
16	chr7:110497630..110499420-chr7:110504943..110507709,2	K562	blood:

No data

Extended variants
information (count: 1180 )
Associated
traits (count: 91 )

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	rs11505731	chr7:110488367-110488368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370572224	chr7:110488378-110488379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11505732	chr7:110488385-110488386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573505162	chr7:110488389-110488390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192809912	chr7:110488425-110488426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185269041	chr7:110488434-110488435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190544511	chr7:110488448-110488449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544285452	chr7:110488456-110488457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538060917	chr7:110488458-110488459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564554168	chr7:110488531-110488532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538005514	chr7:110488550-110488551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577952052	chr7:110488594-110488595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11505733	chr7:110488636-110488637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79293260	chr7:110488642-110488643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35702729	chr7:110488647-110488648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150440033	chr7:110488648-110488649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11505901	chr7:110488657-110488658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548724749	chr7:110488689-110488690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201325392	chr7:110488709-110488710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182317338	chr7:110488716-110488717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10245552	chr7:110488725-110488726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556037661	chr7:110488750-110488751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574483731	chr7:110488764-110488765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551178347	chr7:110488774-110488775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571254697	chr7:110488819-110488820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375381041	chr7:110488841-110488842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185190403	chr7:110488846-110488847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10245691	chr7:110488860-110488861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539148625	chr7:110488873-110488874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117039238	chr7:110488894-110488895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149558580	chr7:110488963-110488964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10261307	chr7:110488972-110488973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536066112	chr7:110489026-110489027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575763960	chr7:110489081-110489082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144249247	chr7:110489101-110489102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188044781	chr7:110489230-110489231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181251321	chr7:110489235-110489236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573699457	chr7:110489248-110489249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185308017	chr7:110489269-110489270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73423031	chr7:110489297-110489298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77039922	chr7:110489314-110489315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560023551	chr7:110489331-110489332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191894953	chr7:110489349-110489350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542508228	chr7:110489355-110489356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565585881	chr7:110489365-110489366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113403459	chr7:110489401-110489402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551481051	chr7:110489411-110489412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112261067	chr7:110489432-110489433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148474296	chr7:110489441-110489442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183636261	chr7:110489485-110489486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute myeloid leukemia	16864856	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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110486000-110490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:110486000-110490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:110488200-110488400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:110490200-110490600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:110490200-110491200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:110490800-110491200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:110491400-110491600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:110491600-110496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:110492000-110492400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:110492400-110493000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:110492600-110493600	Enhancers	Colon Smooth Muscle	Colon
12	chr7:110492800-110493200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:110492800-110493400	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:110493000-110496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:110493200-110496800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:110494200-110495800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:110494600-110495200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:110495200-110496600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:110495600-110495800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:110496400-110496800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:110496400-110497200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:110496400-110498000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:110496400-110498600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:110496600-110497200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:110496600-110497400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:110496600-110497600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:110496600-110498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:110496600-110498200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:110496800-110497000	Enhancers	Pancreas	Pancrea
30	chr7:110496800-110497200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:110496800-110497200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:110496800-110497200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:110496800-110497200	Enhancers	Ovary	ovary
34	chr7:110496800-110497400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:110496800-110498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:110497000-110497200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:110497200-110498000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:110497200-110498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:110497200-110498400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:110497400-110502600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:110498000-110498200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr7:110498400-110498600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:110502600-110503600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:110503600-110508400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:110504800-110505000	Enhancers	Primary T cells from cord blood	blood
46	chr7:110505400-110506600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:110505400-110506600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:110505600-110506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:110505600-110506000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:110505600-110506200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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