Variant report

Variant	nsv1016375
Chromosome Location	chr6:37816863-37865655
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:37850219..37851991-chr6:37857089..37858894,2	MCF-7	breast:
2	chr6:37827459..37830301-chr6:37832209..37835878,4	MCF-7	breast:
3	chr6:37785357..37787655-chr6:37832956..37835943,2	K562	blood:
4	chr6:37827459..37830301-chr6:37832209..37835878,4	MCF-7	breast:
5	chr6:37786256..37787854-chr6:37839934..37842922,2	MCF-7	breast:
6	chr6:37862675..37865303-chr6:37870950..37872525,2	K562	blood:
7	chr6:37758959..37759891-chr6:37827609..37828644,7	MCF-7	breast:
8	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
9	chr6:37815430..37816940-chr6:37822196..37824871,2	K562	blood:
10	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:
11	chr6:37841197..37843157-chr6:37847837..37849901,2	K562	blood:
12	chr6:37759642..37762006-chr6:37820086..37822847,3	MCF-7	breast:
13	chr6:37831095..37834657-chr6:37839870..37842931,3	MCF-7	breast:
14	chr6:37811967..37814483-chr6:37816541..37818397,2	MCF-7	breast:
15	chr6:37827303..37828901-chr6:37845340..37847699,2	K562	blood:
16	chr6:37835497..37837699-chr6:37850167..37852091,2	MCF-7	breast:
17	chr6:37850219..37851991-chr6:37857089..37858894,2	MCF-7	breast:
18	chr6:37788608..37792008-chr6:37826692..37829268,3	K562	blood:
19	chr6:37834905..37837847-chr6:37840827..37844123,3	MCF-7	breast:
20	chr6:37821005..37822553-chr6:37825660..37828094,2	MCF-7	breast:
21	chr6:37846424..37848764-chr6:37858195..37859926,2	K562	blood:
22	chr6:37827303..37828901-chr6:37845340..37847699,2	K562	blood:
23	chr6:37834905..37837847-chr6:37840827..37844123,3	MCF-7	breast:
24	chr6:37854831..37859248-chr6:37860232..37864769,4	K562	blood:
25	chr6:37839590..37841526-chr6:37846793..37848524,2	MCF-7	breast:
26	chr6:37841525..37843246-chr6:37846742..37850050,4	MCF-7	breast:
27	chr6:37759261..37759896-chr6:37827736..37828259,2	K562	blood:
28	chr6:37821005..37822553-chr6:37825660..37828094,2	MCF-7	breast:
29	chr6:37855752..37857873-chr6:37866014..37868220,2	K562	blood:
30	chr6:37839590..37841526-chr6:37846793..37848524,2	MCF-7	breast:
31	chr6:37829312..37832098-chr6:37865008..37867935,3	MCF-7	breast:
32	chr6:37863569..37866168-chr6:37867163..37869619,2	K562	blood:
33	chr6:37788588..37790791-chr6:37827723..37829422,2	MCF-7	breast:
34	chr6:37841525..37843246-chr6:37846742..37850050,4	MCF-7	breast:
35	chr6:37854831..37859248-chr6:37860232..37864769,4	K562	blood:
36	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:
37	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
38	chr6:37829312..37832098-chr6:37865008..37867935,3	MCF-7	breast:
39	chr6:37814297..37817190-chr6:37817323..37820786,4	K562	blood:
40	chr6:37858734..37860389-chr6:37862492..37865486,2	MCF-7	breast:
41	chr6:37858734..37860389-chr6:37862492..37865486,2	MCF-7	breast:
42	chr6:37818045..37820305-chr6:37826347..37828622,2	MCF-7	breast:
43	chr6:37818045..37820305-chr6:37826347..37828622,2	MCF-7	breast:
44	chr6:37831139..37833570-chr6:37835178..37837982,3	K562	blood:
45	chr6:37814399..37816837-chr6:37819235..37822052,4	K562	blood:
46	chr6:37835497..37837699-chr6:37850167..37852091,2	MCF-7	breast:
47	chr6:37785784..37788447-chr6:37823902..37825513,2	MCF-7	breast:
48	chr6:37814297..37817190-chr6:37817323..37820786,4	K562	blood:
49	chr6:37786481..37788955-chr6:37817601..37820838,4	MCF-7	breast:
50	chr6:37846424..37848764-chr6:37858195..37859926,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225945	chromatin interactions
ENSG00000156639	chromatin interactions

Extended variants
information (count: 1850 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74469042	chr6:37816891-37816892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186397875	chr6:37816902-37816903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190497687	chr6:37816903-37816904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149783054	chr6:37816908-37816909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538826965	chr6:37816937-37816938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551996472	chr6:37816970-37816971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544547925	chr6:37816979-37816980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183827898	chr6:37817012-37817013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377374325	chr6:37817015-37817016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7767466	chr6:37817084-37817085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10947704	chr6:37817109-37817110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs557609432	chr6:37817178-37817179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577513697	chr6:37817193-37817194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6909673	chr6:37817206-37817207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553612009	chr6:37817207-37817208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572120845	chr6:37817213-37817214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369026625	chr6:37817221-37817222	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373346510	chr6:37817285-37817286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75723288	chr6:37817292-37817293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74360842	chr6:37817299-37817300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186202636	chr6:37817322-37817323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77087107	chr6:37817325-37817326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1187422	chr6:37817330-37817331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs79699954	chr6:37817331-37817332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75861970	chr6:37817332-37817333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560831963	chr6:37817338-37817339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529672073	chr6:37817344-37817345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541623664	chr6:37817350-37817351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185797667	chr6:37817360-37817361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80219950	chr6:37817369-37817370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11752144	chr6:37817392-37817393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191442966	chr6:37817435-37817436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563592255	chr6:37817449-37817450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76733670	chr6:37817475-37817476	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78471742	chr6:37817477-37817478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532316772	chr6:37817478-37817479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144370093	chr6:37817480-37817481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370631719	chr6:37817481-37817482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565560123	chr6:37817483-37817484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs144456462	chr6:37817516-37817517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182460374	chr6:37817525-37817526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548261751	chr6:37817549-37817550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11967129	chr6:37817564-37817565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113588184	chr6:37817573-37817574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186859492	chr6:37817617-37817618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs147828954	chr6:37817623-37817624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528943753	chr6:37817642-37817643	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376850072	chr6:37817650-37817651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1187423	chr6:37817666-37817667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191565231	chr6:37817673-37817674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1669 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37791200-37820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:37794000-37819800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:37795000-37825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:37796000-37828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:37796000-37830600	Weak transcription	Hela-S3	cervix
6	chr6:37799400-37817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:37799600-37825800	Weak transcription	Esophagus	oesophagus
8	chr6:37799800-37825400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:37800200-37830200	Weak transcription	Ovary	ovary
10	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:37801000-37817600	Weak transcription	Spleen	Spleen
12	chr6:37801000-37818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:37801200-37833400	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:37802400-37818400	Weak transcription	Primary B cells from cord blood	blood
15	chr6:37802600-37818400	Weak transcription	Fetal Lung	lung
16	chr6:37802600-37834400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:37803000-37823800	Weak transcription	Fetal Intestine Large	intestine
18	chr6:37806800-37830800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:37808000-37839000	Weak transcription	Fetal Stomach	stomach
20	chr6:37808400-37817600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:37808400-37818000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:37808600-37817800	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:37808600-37818200	Weak transcription	Brain Anterior Caudate	brain
24	chr6:37808600-37832600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:37809400-37823400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:37809600-37825400	Weak transcription	Aorta	Aorta
27	chr6:37810200-37817600	Weak transcription	Lung	lung
28	chr6:37810200-37817600	Weak transcription	Right Atrium	heart
29	chr6:37810200-37817600	Weak transcription	Right Ventricle	heart
30	chr6:37811000-37823600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:37812000-37831400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:37812000-37832600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:37812200-37830200	Weak transcription	Thymus	Thymus
34	chr6:37812400-37830800	Weak transcription	Fetal Thymus	thymus
35	chr6:37812600-37836000	Weak transcription	Fetal Intestine Small	intestine
36	chr6:37813000-37818600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:37813600-37817600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:37813600-37817600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:37813600-37819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:37813600-37845200	Weak transcription	K562	blood
41	chr6:37814000-37817600	Weak transcription	Gastric	stomach
42	chr6:37814000-37817600	Weak transcription	Psoas Muscle	Psoas
43	chr6:37814000-37818000	Weak transcription	GM12878-XiMat	blood
44	chr6:37814000-37818200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:37814000-37818200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:37814000-37826600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:37814000-37828600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:37814000-37830800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:37814000-37835400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:37814200-37817600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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