Variant report

Variant	nsv462916
Chromosome Location	chr6:38747770-38782401
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38680060..38681577-chr6:38747521..38749973,2	K562	blood:
2	chr6:38761644..38764833-chr6:38770187..38773339,3	K562	blood:
3	chr6:38781296..38783678-chr6:38797945..38799574,2	MCF-7	breast:
4	chr6:38767591..38769178-chr6:38771551..38774399,2	K562	blood:
5	chr6:38758290..38761178-chr6:38769985..38772516,2	K562	blood:
6	chr6:38722850..38724981-chr6:38761101..38763461,2	MCF-7	breast:
7	chr6:38781140..38782847-chr6:38810587..38812148,2	K562	blood:
8	chr6:38756316..38758833-chr6:38761826..38764671,2	MCF-7	breast:
9	chr6:38745585..38748402-chr6:38749939..38752656,4	K562	blood:
10	chr6:38762200..38765807-chr6:38769309..38772341,3	K562	blood:
11	chr6:38758085..38759601-chr6:38760717..38763383,2	K562	blood:
12	chr6:38767591..38769178-chr6:38771551..38774399,2	K562	blood:
13	chr6:38761644..38764833-chr6:38770187..38773339,3	K562	blood:
14	chr6:38762200..38765807-chr6:38769309..38772341,3	K562	blood:
15	chr6:38758290..38761178-chr6:38769985..38772516,2	K562	blood:
16	chr6:38758085..38759601-chr6:38760717..38763383,2	K562	blood:
17	chr6:38745585..38748255-chr6:38749939..38751759,3	K562	blood:
18	chr6:38773740..38774704-chr6:38901124..38901864,4	MCF-7	breast:
19	chr6:38771295..38773391-chr6:38780024..38781597,2	K562	blood:
20	chr6:38756316..38758833-chr6:38761826..38764671,2	MCF-7	breast:
21	chr6:38760562..38763283-chr6:38847483..38849183,2	K562	blood:
22	chr6:38745585..38748255-chr6:38749939..38751759,3	K562	blood:
23	chr6:38742135..38744348-chr6:38746866..38748899,2	MCF-7	breast:
24	chr6:38756306..38758851-chr7:124960777..124963063,2	MCF-7	breast:
25	chr6:38763255..38763863-chr6:38901115..38901700,2	MCF-7	breast:
26	chr6:38753809..38755972-chr6:38756786..38759773,2	MCF-7	breast:
27	chr6:38771295..38773391-chr6:38780024..38781597,2	K562	blood:
28	chr6:38749592..38751313-chr6:38753149..38755340,2	MCF-7	breast:
29	chr6:38773772..38774427-chr6:38839336..38840211,3	MCF-7	breast:
30	chr6:38781958..38783786-chr6:38788204..38790134,2	MCF-7	breast:
31	chr6:38749592..38751313-chr6:38753149..38755340,2	MCF-7	breast:
32	chr6:38745585..38748402-chr6:38749939..38752656,4	K562	blood:
33	chr6:38753809..38755972-chr6:38756786..38759773,2	MCF-7	breast:
34	chr6:38763015..38763945-chr6:38839605..38840402,3	MCF-7	breast:

No data

Extended variants
information (count: 1437 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1437 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1738254	chr6:38747770-38747771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200737379	chr6:38747785-38747786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201894505	chr6:38747787-38747788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141983502	chr6:38747798-38747799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376576474	chr6:38747842-38747843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138627249	chr6:38747866-38747867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201155773	chr6:38747867-38747868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538246335	chr6:38747886-38747887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368692182	chr6:38747895-38747896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79337231	chr6:38747969-38747970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557782066	chr6:38748070-38748071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79644015	chr6:38748115-38748116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1678662	chr6:38748134-38748135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192800678	chr6:38748163-38748164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559123706	chr6:38748169-38748170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528345365	chr6:38748178-38748179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142927540	chr6:38748195-38748196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568022025	chr6:38748196-38748197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530405381	chr6:38748212-38748213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11965500	chr6:38748262-38748263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550632295	chr6:38748279-38748280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540800435	chr6:38748282-38748283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35611838	chr6:38748292-38748293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570555210	chr6:38748324-38748325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539589714	chr6:38748364-38748365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553558879	chr6:38748393-38748394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567081096	chr6:38748394-38748395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147346319	chr6:38748456-38748457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555761870	chr6:38748471-38748472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139504942	chr6:38748515-38748516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537840894	chr6:38748538-38748539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557776090	chr6:38748543-38748544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577610902	chr6:38748578-38748579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368370882	chr6:38748579-38748580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577665499	chr6:38748581-38748582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76368309	chr6:38748593-38748594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145121464	chr6:38748599-38748600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573794176	chr6:38748625-38748626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149534301	chr6:38748626-38748627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397960718	chr6:38748634-38748635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572973105	chr6:38748646-38748647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370845827	chr6:38748651-38748652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1738253	chr6:38748667-38748668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561821841	chr6:38748697-38748698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148638087	chr6:38748728-38748729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550594907	chr6:38748737-38748738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1738252	chr6:38748746-38748747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6940955	chr6:38748760-38748761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533326344	chr6:38748779-38748780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541573886	chr6:38748786-38748787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38747200-38749200	Weak transcription	K562	blood
2	chr6:38749200-38750400	Enhancers	K562	blood
3	chr6:38750400-38751000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:38750400-38751000	Flanking Active TSS	K562	blood
5	chr6:38750400-38751800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:38750800-38752600	Enhancers	Fetal Kidney	kidney
7	chr6:38751000-38751600	Enhancers	K562	blood
8	chr6:38751200-38751400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:38751200-38751400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:38751200-38751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:38751200-38751400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:38751200-38751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:38751200-38751600	Enhancers	Brain Germinal Matrix	brain
14	chr6:38751200-38751600	Enhancers	HUVEC	blood vessel
15	chr6:38751200-38751800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:38751200-38752400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:38751200-38752600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:38751200-38753000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:38751200-38753200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:38751200-38755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:38751400-38751600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:38751400-38751800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:38751400-38751800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:38751400-38751800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:38751400-38751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:38751400-38752000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:38751400-38752000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:38751600-38751800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:38751600-38751800	Flanking Active TSS	K562	blood
30	chr6:38751600-38752000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:38751600-38752000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:38751600-38752000	Weak transcription	Brain Germinal Matrix	brain
33	chr6:38751600-38752000	Enhancers	Pancreas	Pancrea
34	chr6:38751600-38752800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:38751600-38752800	Weak transcription	HUVEC	blood vessel
36	chr6:38751600-38753000	Enhancers	Osteobl	bone
37	chr6:38751800-38752000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:38751800-38752000	Enhancers	K562	blood
39	chr6:38751800-38752200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:38751800-38752400	Enhancers	NH-A	brain
41	chr6:38751800-38752600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:38751800-38753000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:38751800-38763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:38752000-38752200	Flanking Active TSS	K562	blood
45	chr6:38752000-38752400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:38752000-38752600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:38752000-38752600	Enhancers	Brain Germinal Matrix	brain
48	chr6:38752000-38752800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:38752000-38754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:38752200-38752600	Enhancers	K562	blood

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