Variant report

Variant	nsv830786
Chromosome Location	chr6:118026955-118201660
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118145867..118148087-chr6:118150158..118152792,2	K562	blood:
2	chr6:117667475..117668077-chr6:118150803..118151650,3	MCF-7	breast:
3	chr6:118098552..118100607-chr6:118100907..118103455,2	K562	blood:
4	chr6:118108924..118111635-chr6:118111660..118114619,2	MCF-7	breast:
5	chr6:118145703..118148087-chr6:118150762..118152792,2	K562	blood:
6	chr6:118024968..118027166-chr6:118033467..118035256,2	K562	blood:
7	chr6:118164102..118166034-chr6:118168115..118169823,2	K562	blood:
8	chr6:118164102..118166034-chr6:118168115..118169823,2	K562	blood:
9	chr6:118145703..118148087-chr6:118150762..118152792,2	K562	blood:
10	chr6:117673350..117673896-chr6:118151167..118151719,2	MCF-7	breast:
11	chr6:118098552..118100607-chr6:118100907..118103455,2	K562	blood:
12	chr6:117667375..117667938-chr6:118150757..118151683,3	K562	blood:
13	chr6:117720955..117721772-chr6:118150708..118151251,2	MCF-7	breast:
14	chr6:118161401..118162100-chr6:118227994..118228639,2	MCF-7	breast:
15	chr6:117996482..117998059-chr6:118032701..118034452,2	MCF-7	breast:
16	chr6:117926214..117926984-chr6:118150760..118151474,2	MCF-7	breast:
17	chr6:118024968..118027166-chr6:118033467..118035256,2	K562	blood:
18	chr6:117770674..117771260-chr6:118150789..118151724,2	K562	blood:
19	chr6:118108924..118111635-chr6:118111660..118114619,2	MCF-7	breast:
20	chr6:118145867..118148087-chr6:118150158..118152792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153989	chromatin interactions

Extended variants
information (count: 2801 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2801 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562860284	chr6:118027007-118027008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558207374	chr6:118027009-118027010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566726235	chr6:118027179-118027180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373685496	chr6:118027249-118027250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112431206	chr6:118027348-118027349	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555264238	chr6:118027353-118027354	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72951525	chr6:118027496-118027497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544981747	chr6:118027566-118027567	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543955837	chr6:118027582-118027583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560319739	chr6:118027595-118027596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556187816	chr6:118027612-118027613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188505306	chr6:118027624-118027625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544557321	chr6:118027625-118027626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559724416	chr6:118027627-118027628	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527775825	chr6:118027643-118027644	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147449438	chr6:118027649-118027650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540966250	chr6:118027653-118027654	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139846554	chr6:118027660-118027661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142991889	chr6:118027691-118027692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192986158	chr6:118027765-118027766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184703979	chr6:118027821-118027822	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs2498588	chr6:118027830-118027831	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs151114800	chr6:118027831-118027832	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs566912273	chr6:118027849-118027850	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs557516788	chr6:118027860-118027861	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs189443048	chr6:118027861-118027862	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs568200239	chr6:118027866-118027867	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs549288605	chr6:118027898-118027899	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs116370565	chr6:118027948-118027949	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs114028127	chr6:118027949-118027950	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs371836612	chr6:118027955-118027956	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs556088376	chr6:118027964-118027965	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs180790493	chr6:118027995-118027996	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs575338863	chr6:118028020-118028021	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs183516175	chr6:118028059-118028060	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs374744834	chr6:118028069-118028070	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs571735150	chr6:118028070-118028071	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs146457283	chr6:118028071-118028072	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs199793068	chr6:118028073-118028074	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs574276945	chr6:118028130-118028131	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs150953098	chr6:118028140-118028141	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs140791750	chr6:118028141-118028142	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs550676	chr6:118028145-118028146	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529109392	chr6:118028166-118028167	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs374139762	chr6:118028168-118028169	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs550858100	chr6:118028186-118028187	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs2355152	chr6:118028193-118028194	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs115511966	chr6:118028196-118028197	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs551952235	chr6:118028198-118028199	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs201923773	chr6:118028211-118028212	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117999000-118039800	Weak transcription	Gastric	stomach
2	chr6:117999000-118042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:117999200-118028200	Weak transcription	Hela-S3	cervix
4	chr6:117999200-118029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:118000800-118029400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:118001200-118027400	Weak transcription	Thymus	Thymus
7	chr6:118002600-118027600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:118008800-118029600	Weak transcription	Colonic Mucosa	Colon
9	chr6:118009400-118039800	Weak transcription	Small Intestine	intestine
10	chr6:118012600-118039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:118014400-118029000	Weak transcription	A549	lung
12	chr6:118015600-118030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:118016600-118029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:118016600-118040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:118016800-118028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:118016800-118029400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:118016800-118032400	Weak transcription	Fetal Stomach	stomach
18	chr6:118017000-118029800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:118017000-118033200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:118017000-118040000	Weak transcription	Pancreas	Pancrea
21	chr6:118017600-118029400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:118017800-118029400	Weak transcription	Fetal Brain Male	brain
23	chr6:118018000-118027400	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:118018000-118029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:118018000-118029600	Weak transcription	Psoas Muscle	Psoas
26	chr6:118018600-118027400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:118021600-118028400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:118021600-118032600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:118021800-118027000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:118021800-118028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:118021800-118028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:118022600-118028200	Strong transcription	HepG2	liver
33	chr6:118022800-118028000	Strong transcription	HSMM	muscle
34	chr6:118022800-118028200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:118022800-118028200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:118022800-118028400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:118022800-118028400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:118022800-118028400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:118023000-118027200	Strong transcription	HSMMtube	muscle
40	chr6:118023000-118027800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:118023000-118027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:118023000-118028000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:118023000-118028000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:118023000-118028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:118023000-118028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:118023000-118028200	Strong transcription	Primary T cells from cord blood	blood
47	chr6:118023000-118028200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:118023000-118028200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:118023000-118028200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:118023000-118028200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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