Variant report

Variant	nsv5167
Chromosome Location	chr6:442174-486632
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:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:439906..443284-chr6:445258..447366,3	K562	blood:
2	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
3	chr6:452619..455304-chr6:464046..466915,2	K562	blood:
4	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
5	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
6	chr6:439020..441406-chr6:445866..448274,2	K562	blood:
7	chr6:466967..469426-chr6:471037..473019,2	K562	blood:
8	chr6:440337..442812-chr6:446858..449559,2	MCF-7	breast:
9	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
10	chr6:465774..468570-chr6:469900..472566,3	K562	blood:
11	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
12	chr6:439906..443284-chr6:445258..447366,3	K562	blood:
13	chr6:465774..468570-chr6:469900..472566,3	K562	blood:
14	chr6:479740..482609-chr6:484854..487797,2	K562	blood:
15	chr6:328240..330031-chr6:473438..476214,2	MCF-7	breast:
16	chr6:466967..469426-chr6:471037..473019,2	K562	blood:
17	chr6:479740..482609-chr6:484854..487797,2	K562	blood:
18	chr6:452619..455304-chr6:464046..466915,2	K562	blood:
19	chr6:474698..477221-chr6:477805..479723,2	K562	blood:
20	chr6:440337..442812-chr6:446858..449559,2	MCF-7	breast:
21	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
22	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
23	chr6:482791..485178-chr6:487911..490396,2	K562	blood:
24	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
25	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
26	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
27	chr6:437166..439679-chr6:441319..444168,2	MCF-7	breast:
28	chr6:474698..477221-chr6:477805..479723,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRF4-4	chr6:444487-444818	NONHSAT106051
2	lnc-IRF4-5	chr6:481970-482301	NONHSAT106056
3	lnc-IRF4-4	chr6:444524-444855	NONHSAT106052

No data

Extended variants
information (count: 2788 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2788 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571047333	chr6:442182-442183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539689576	chr6:442199-442200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4959880	chr6:442206-442207	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs568642818	chr6:442212-442213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189789787	chr6:442237-442238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67068034	chr6:442276-442277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574381149	chr6:442307-442308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533515214	chr6:442333-442334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554078262	chr6:442334-442335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9392017	chr6:442357-442358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12213791	chr6:442361-442362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181390332	chr6:442402-442403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7749710	chr6:442410-442411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186859077	chr6:442411-442412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144876832	chr6:442412-442413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138772777	chr6:442421-442422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140225321	chr6:442450-442451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190053158	chr6:442451-442452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533428807	chr6:442455-442456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181749135	chr6:442459-442460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114394757	chr6:442471-442472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186266953	chr6:442488-442489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548278212	chr6:442499-442500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74742243	chr6:442503-442504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568054893	chr6:442526-442527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533831987	chr6:442569-442570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553467839	chr6:442575-442576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77904863	chr6:442592-442593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182171439	chr6:442594-442595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578202758	chr6:442625-442626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73381048	chr6:442629-442630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572051444	chr6:442631-442632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542034206	chr6:442718-442719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562254979	chr6:442741-442742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145262659	chr6:442745-442746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137968977	chr6:442750-442751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369075431	chr6:442763-442764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6921196	chr6:442791-442792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553416165	chr6:442800-442801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533125828	chr6:442803-442804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573124690	chr6:442804-442805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186085845	chr6:442805-442806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149485564	chr6:442809-442810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529487933	chr6:442816-442817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144318229	chr6:442817-442818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191330264	chr6:442824-442825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533637212	chr6:442876-442877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374147123	chr6:442888-442889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377671822	chr6:442907-442908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570485351	chr6:442915-442916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:440600-444800	Weak transcription	Fetal Heart	heart
2	chr6:443200-444600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr6:443200-448600	Enhancers	Fetal Thymus	thymus
4	chr6:443200-449000	Enhancers	Primary T cells from cord blood	blood
5	chr6:443200-453200	Weak transcription	Right Atrium	heart
6	chr6:443600-444600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:443600-446800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:443600-447000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:443800-444000	Enhancers	Spleen	Spleen
10	chr6:443800-446600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr6:443800-447000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:444000-446400	Weak transcription	Spleen	Spleen
13	chr6:444000-446600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:444200-447200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:444400-444800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:444400-446800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:444400-449400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:444600-444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:444600-445000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr6:444600-447000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:444600-448600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr6:444800-445000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:444800-445000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr6:444800-446000	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:444800-446800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:444800-447000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:444800-447000	Enhancers	Fetal Heart	heart
28	chr6:444800-447200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:444800-447800	Enhancers	Dnd41	blood
30	chr6:444800-448200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:444800-448200	Enhancers	Thymus	Thymus
32	chr6:445000-445200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:445000-445200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:445000-446800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:445200-445400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:445200-446600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:445400-445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:445600-446400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:445800-447000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:445800-447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:445800-447800	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:445800-448200	Enhancers	GM12878-XiMat	blood
43	chr6:446000-446600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:446200-446400	Bivalent Enhancer	Placenta	Placenta
45	chr6:446200-447400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:446400-446600	Enhancers	Spleen	Spleen
47	chr6:446600-446800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:446600-447000	Weak transcription	Spleen	Spleen
49	chr6:446600-448200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:446600-448200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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