Variant report

Variant	nsv463989
Chromosome Location	chr6:101039215-101078718
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
2	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
3	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
4	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
5	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
6	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
7	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
8	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
9	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
10	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
11	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
12	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
13	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
14	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124225	chromatin interactions

Extended variants
information (count: 1394 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17245314	chr6:101039215-101039216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559660676	chr6:101039216-101039217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143014698	chr6:101039238-101039239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs108422	chr6:101039279-101039280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371462540	chr6:101039296-101039297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564643859	chr6:101039297-101039298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187325093	chr6:101039412-101039413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1006399	chr6:101039470-101039471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546246164	chr6:101039521-101039522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570162987	chr6:101039554-101039555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568034100	chr6:101039571-101039572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535446658	chr6:101039579-101039580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553311323	chr6:101039593-101039594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566035248	chr6:101039594-101039595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191779685	chr6:101039684-101039685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7741503	chr6:101039685-101039686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115322703	chr6:101039794-101039795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543628669	chr6:101039858-101039859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76077368	chr6:101039879-101039880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574012836	chr6:101039904-101039905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541442691	chr6:101039968-101039969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183591972	chr6:101039979-101039980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76465637	chr6:101040032-101040033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549287728	chr6:101040033-101040034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147475349	chr6:101040070-101040071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546105235	chr6:101040112-101040113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564155216	chr6:101040168-101040169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142607515	chr6:101040182-101040183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117237037	chr6:101040232-101040233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185687126	chr6:101040248-101040249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528909255	chr6:101040257-101040258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547034145	chr6:101040272-101040273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190253831	chr6:101040285-101040286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6932282	chr6:101040296-101040297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182122929	chr6:101040299-101040300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186834864	chr6:101040318-101040319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193041699	chr6:101040355-101040356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575424630	chr6:101040357-101040358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555637684	chr6:101040398-101040399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150573835	chr6:101040423-101040424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541528607	chr6:101040501-101040502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375343313	chr6:101040523-101040524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116761267	chr6:101040551-101040552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375644532	chr6:101040575-101040576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578055819	chr6:101040651-101040652	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545394265	chr6:101040672-101040673	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564420329	chr6:101040718-101040719	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555050072	chr6:101040775-101040776	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183961999	chr6:101040820-101040821	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536748239	chr6:101040877-101040878	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101009000-101065600	Weak transcription	NHEK	skin
2	chr6:101011000-101080800	Weak transcription	HepG2	liver
3	chr6:101015800-101049200	Weak transcription	Esophagus	oesophagus
4	chr6:101016400-101065800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:101017200-101069400	Weak transcription	Fetal Lung	lung
6	chr6:101017800-101069800	Weak transcription	Lung	lung
7	chr6:101018400-101051200	Weak transcription	Right Ventricle	heart
8	chr6:101018600-101040800	Weak transcription	HSMMtube	muscle
9	chr6:101019000-101047800	Weak transcription	Small Intestine	intestine
10	chr6:101020400-101066200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:101025800-101099800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:101027800-101049600	Weak transcription	Fetal Kidney	kidney
13	chr6:101027800-101070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:101028000-101068800	Weak transcription	Psoas Muscle	Psoas
15	chr6:101030200-101070000	Weak transcription	Aorta	Aorta
16	chr6:101031200-101048600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:101032400-101102000	Weak transcription	Thymus	Thymus
18	chr6:101032400-101104400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:101032600-101046600	Weak transcription	Gastric	stomach
20	chr6:101032600-101047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:101032600-101102000	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:101032600-101110400	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:101032800-101065600	Weak transcription	Colonic Mucosa	Colon
24	chr6:101033000-101048600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:101033400-101048400	Weak transcription	HUVEC	blood vessel
26	chr6:101033600-101057600	Weak transcription	Brain Angular Gyrus	brain
27	chr6:101033800-101065400	Weak transcription	Hela-S3	cervix
28	chr6:101034000-101085000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:101034400-101043000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:101034400-101048000	Weak transcription	Fetal Stomach	stomach
31	chr6:101034400-101066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:101034400-101084200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:101034400-101092400	Weak transcription	Pancreas	Pancrea
34	chr6:101034600-101045200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:101034600-101048000	Weak transcription	Ovary	ovary
36	chr6:101034600-101048800	Weak transcription	Left Ventricle	heart
37	chr6:101034600-101048800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:101034600-101055000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:101035400-101048200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:101035400-101065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:101035800-101070000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:101036000-101064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:101036000-101075200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:101036000-101084800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:101036200-101047600	Weak transcription	Primary T cells from cord blood	blood
46	chr6:101036200-101053400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:101036200-101073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:101036200-101084000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:101036400-101040800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:101036400-101044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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