Variant report

Variant	nsv966831
Chromosome Location	chr7:65415065-65428348
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65419242..65420839-chr7:65426993..65428588,2	MCF-7	breast:
2	chr7:65417227..65419058-chr7:65445876..65447532,2	MCF-7	breast:
3	chr7:65418223..65420511-chr7:65422513..65424298,2	K562	blood:
4	chr7:65425587..65427267-chr7:65432943..65434454,2	K562	blood:
5	chr7:65419242..65420839-chr7:65426993..65428588,2	MCF-7	breast:
6	chr7:65420692..65422750-chr7:65424011..65425945,2	MCF-7	breast:
7	chr10:62042161..62042892-chr7:65418290..65419212,2	MCF-7	breast:
8	chr7:65420692..65422750-chr7:65424011..65425945,2	MCF-7	breast:
9	chr7:65421351..65423087-chr7:65426463..65428555,2	K562	blood:
10	chr18:9614542..9615101-chr7:65425383..65426101,2	Hela-S3	cervix:
11	chr7:65337107..65340268-chr7:65414236..65416219,3	K562	blood:
12	chr7:65419413..65421834-chr7:65450885..65452622,2	K562	blood:
13	chr7:65419004..65421368-chr7:65431133..65432952,3	K562	blood:
14	chr7:65426424..65431277-chr7:65442612..65445930,6	K562	blood:
15	chr7:65416600..65418884-chr7:65442877..65445897,3	K562	blood:
16	chr7:65418223..65420511-chr7:65422513..65424298,2	K562	blood:
17	chr7:65338343..65340268-chr7:65414719..65416455,2	K562	blood:
18	chr7:65421351..65423087-chr7:65426463..65428555,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169919	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000196715	chromatin interactions

Extended variants
information (count: 504 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373722658	chr7:65415094-65415095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572078032	chr7:65415190-65415191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576051346	chr7:65415209-65415210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142503580	chr7:65415289-65415290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545624454	chr7:65415311-65415312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187788849	chr7:65415316-65415317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565232658	chr7:65415365-65415366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35438895	chr7:65415366-65415367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531054825	chr7:65415370-65415371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12113646	chr7:65415382-65415383	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4535605	chr7:65415425-65415426	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs192170031	chr7:65415479-65415480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184385632	chr7:65415488-65415489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565971823	chr7:65415541-65415542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562965128	chr7:65415583-65415584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371926327	chr7:65415588-65415589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145954567	chr7:65415600-65415601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546351132	chr7:65415616-65415617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536716992	chr7:65415632-65415633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115298912	chr7:65415633-65415634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1917563	chr7:65415647-65415648	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs535855539	chr7:65415683-65415684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201855106	chr7:65415687-65415688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189762461	chr7:65415690-65415691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192912128	chr7:65415731-65415732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573528390	chr7:65415790-65415791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545249839	chr7:65415829-65415830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59794892	chr7:65415873-65415874	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs140133262	chr7:65415956-65415957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544687875	chr7:65415999-65416000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73370701	chr7:65416039-65416040	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76870979	chr7:65416070-65416071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530074415	chr7:65416085-65416086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35833177	chr7:65416113-65416114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189383366	chr7:65416132-65416133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141502855	chr7:65416146-65416147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150910652	chr7:65416166-65416167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10807697	chr7:65416170-65416171	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs548291358	chr7:65416241-65416242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571084270	chr7:65416285-65416286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs57126451	chr7:65416306-65416307	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs532505178	chr7:65416429-65416430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567064045	chr7:65416509-65416510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36004293	chr7:65416512-65416513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs35268390	chr7:65416536-65416537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs139424808	chr7:65416548-65416549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369613366	chr7:65416551-65416552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567037405	chr7:65416559-65416560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201819889	chr7:65416562-65416563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200800726	chr7:65416570-65416571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Chronic myeloid leukemia	18641042	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
7	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
8	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
13	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
14	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
15	chr7:65390600-65423800	Weak transcription	Gastric	stomach
16	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
20	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung
21	chr7:65396600-65418600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:65396800-65416800	Weak transcription	Hela-S3	cervix
23	chr7:65396800-65420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:65397400-65419600	Weak transcription	Left Ventricle	heart
25	chr7:65399200-65425000	Weak transcription	Small Intestine	intestine
26	chr7:65399800-65419600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:65400200-65420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:65400800-65420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:65401000-65417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:65401200-65420000	Weak transcription	HUVEC	blood vessel
31	chr7:65401200-65423800	Weak transcription	Spleen	Spleen
32	chr7:65401400-65425000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:65401800-65425000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:65402000-65420200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:65402000-65424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:65402000-65425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:65402200-65419000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:65402400-65419400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:65402800-65417800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:65403800-65419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:65403800-65419600	Weak transcription	Osteobl	bone
42	chr7:65404000-65418800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:65404000-65420400	Weak transcription	HSMM	muscle
44	chr7:65404200-65417800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:65404200-65418400	Weak transcription	K562	blood
46	chr7:65404200-65418800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:65404400-65416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:65404400-65419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:65404400-65419000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:65404400-65419000	Weak transcription	Lung	lung

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