Variant report

Variant	nsv933765
Chromosome Location	chr7:6029095-6039048
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6033194..6036666-chr7:6097186..6100537,4	MCF-7	breast:
2	chr7:6034265..6036958-chr7:6048881..6052567,3	K562	blood:
3	chr7:6036905..6037494-chr7:6475471..6476167,2	MCF-7	breast:
4	chr7:6029549..6032323-chr7:6033802..6035635,3	MCF-7	breast:
5	chr7:6036949..6037476-chr7:6144238..6144854,3	MCF-7	breast:
6	chr7:6036139..6038857-chr7:6041101..6043298,3	K562	blood:
7	chr7:6034265..6036958-chr7:6048918..6052567,3	K562	blood:
8	chr7:6028083..6031843-chr7:6035070..6038579,3	K562	blood:
9	chr7:6038036..6040606-chr7:6387111..6388814,2	MCF-7	breast:
10	chr7:6035573..6039204-chr7:6386804..6390151,4	MCF-7	breast:
11	chr7:6035426..6037082-chr7:6372151..6373884,2	MCF-7	breast:
12	chr7:5895754..5896691-chr7:6036473..6037181,2	MCF-7	breast:
13	chr7:6036973..6037538-chr7:6362378..6363229,3	K562	blood:
14	chr7:6035718..6038633-chr7:6038935..6040771,2	K562	blood:
15	chr7:6035383..6037045-chr7:6343734..6346245,2	MCF-7	breast:
16	chr7:6035718..6038633-chr7:6038935..6040771,2	K562	blood:
17	chr7:6034085..6036991-chr7:6144638..6147451,2	MCF-7	breast:
18	chr7:6036554..6037500-chr7:6641616..6642526,2	K562	blood:
19	chr7:6036549..6037511-chr7:6144029..6144911,7	K562	blood:
20	chr7:6028083..6031843-chr7:6035070..6038579,3	K562	blood:
21	chr7:6036923..6037480-chr7:6474991..6475586,3	K562	blood:
22	chr7:6029549..6032323-chr7:6033802..6035635,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106305	chromatin interactions
ENSG00000178397	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000086232	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537111969	chr7:6029139-6029140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112688886	chr7:6029145-6029146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574283062	chr7:6029178-6029179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535016613	chr7:6029203-6029204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553134175	chr7:6029240-6029241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578014084	chr7:6029270-6029271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148031121	chr7:6029289-6029290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573683227	chr7:6029334-6029335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564243402	chr7:6029401-6029402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576317272	chr7:6029415-6029416	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs267608158	chr7:6029429-6029430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373885654	chr7:6029430-6029431	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536031711	chr7:6029439-6029440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367774545	chr7:6029447-6029448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141769057	chr7:6029479-6029480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370066853	chr7:6029483-6029484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567102013	chr7:6029495-6029496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs267608156	chr7:6029498-6029499	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528499793	chr7:6029507-6029508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543676323	chr7:6029517-6029518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150515238	chr7:6029534-6029535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561993366	chr7:6029549-6029550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs63750049	chr7:6029554-6029555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200513014	chr7:6029571-6029572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186577215	chr7:6029582-6029583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368694601	chr7:6029607-6029608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547358998	chr7:6029623-6029624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368044966	chr7:6029664-6029665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149249785	chr7:6029690-6029691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112796669	chr7:6029700-6029701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533018483	chr7:6029702-6029703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192638134	chr7:6029724-6029725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142295080	chr7:6029731-6029732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28699470	chr7:6029748-6029749	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs367832785	chr7:6029841-6029842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79815075	chr7:6029842-6029843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375486008	chr7:6029851-6029852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564098317	chr7:6029863-6029864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184662838	chr7:6029885-6029886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567942040	chr7:6029971-6029972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368239451	chr7:6029982-6029983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201649628	chr7:6030002-6030003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553283986	chr7:6030018-6030019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571571295	chr7:6030020-6030021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572338343	chr7:6030104-6030105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189113771	chr7:6030112-6030113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35518580	chr7:6030123-6030124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34021756	chr7:6030131-6030132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181882135	chr7:6030144-6030145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573970295	chr7:6030162-6030163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6010400-6048000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6015800-6033600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:6016200-6029400	Weak transcription	A549	lung
4	chr7:6016200-6029400	Weak transcription	Hela-S3	cervix
5	chr7:6016200-6047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:6016600-6033800	Weak transcription	GM12878-XiMat	blood
7	chr7:6017000-6035000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:6017400-6038600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:6017800-6030200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:6018000-6033600	Weak transcription	HUVEC	blood vessel
11	chr7:6018200-6034400	Weak transcription	K562	blood
12	chr7:6018200-6035000	Weak transcription	NH-A	brain
13	chr7:6018400-6035400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:6019400-6035400	Weak transcription	HepG2	liver
15	chr7:6019600-6030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:6019600-6035200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:6019600-6035200	Weak transcription	Fetal Brain Male	brain
18	chr7:6022600-6048000	Weak transcription	NHLF	lung
19	chr7:6023600-6035000	Weak transcription	HSMMtube	muscle
20	chr7:6024800-6029200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:6024800-6033200	Weak transcription	Small Intestine	intestine
22	chr7:6025000-6035400	Weak transcription	Psoas Muscle	Psoas
23	chr7:6025000-6039600	Weak transcription	Esophagus	oesophagus
24	chr7:6025000-6048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:6025200-6035000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:6025200-6046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:6025400-6035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6025400-6035200	Weak transcription	HSMM	muscle
29	chr7:6025800-6038600	Weak transcription	Aorta	Aorta
30	chr7:6025800-6045200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:6026200-6029400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:6026200-6030600	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:6026200-6042800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:6026200-6045400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:6026200-6046200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:6026400-6029200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:6026400-6029400	Strong transcription	Fetal Intestine Large	intestine
38	chr7:6026400-6029600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:6026400-6029600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:6026400-6029800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:6026400-6030000	Strong transcription	Primary T cells from cord blood	blood
42	chr7:6026400-6030400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:6026400-6032000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:6026400-6032000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:6026400-6032000	Strong transcription	Placenta	Placenta
46	chr7:6026400-6032200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr7:6026400-6032200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:6026400-6032200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:6026400-6032200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:6026400-6032200	Strong transcription	Fetal Thymus	thymus

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