Variant report

Variant	nsv883360
Chromosome Location	chr6:415406-457748
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:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:439020..441406-chr6:445866..448274,2	K562	blood:
2	chr6:414625..416916-chr6:423887..426653,2	K562	blood:
3	chr6:423651..426964-chr6:426983..431390,3	K562	blood:
4	chr6:408215..411894-chr6:412351..416042,4	K562	blood:
5	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
6	chr6:439906..443284-chr6:445258..447366,3	K562	blood:
7	chr6:423338..426540-chr6:426983..429484,4	K562	blood:
8	chr6:440337..442812-chr6:446858..449559,2	MCF-7	breast:
9	chr6:412558..415332-chr6:420167..422817,2	K562	blood:
10	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
11	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
12	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
13	chr6:423338..426540-chr6:426983..429484,4	K562	blood:
14	chr6:439906..443284-chr6:445258..447366,3	K562	blood:
15	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
16	chr6:439020..441406-chr6:445866..448274,2	K562	blood:
17	chr6:437166..439679-chr6:441319..444168,2	MCF-7	breast:
18	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
19	chr6:440337..442812-chr6:446858..449559,2	MCF-7	breast:
20	chr6:452619..455304-chr6:464046..466915,2	K562	blood:
21	chr6:437166..439679-chr6:441319..444168,2	MCF-7	breast:
22	chr6:414625..416916-chr6:423887..426653,2	K562	blood:
23	chr6:423651..426964-chr6:426983..431390,3	K562	blood:

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

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

No data

Extended variants
information (count: 2289 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2289 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9503644	chr6:415406-415407	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552916626	chr6:415416-415417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368335339	chr6:415480-415481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538120620	chr6:415493-415494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538902363	chr6:415505-415506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187396896	chr6:415631-415632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145285853	chr6:415633-415634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191930639	chr6:415652-415653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184059725	chr6:415684-415685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556798515	chr6:415764-415765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573741467	chr6:415766-415767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34832776	chr6:415786-415787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140340384	chr6:415837-415838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369841287	chr6:415851-415852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189473458	chr6:415881-415882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181023115	chr6:415937-415938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540004278	chr6:415942-415943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545312128	chr6:415951-415952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144113184	chr6:416063-416064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530597837	chr6:416073-416074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536077705	chr6:416165-416166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146513132	chr6:416247-416248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200866922	chr6:416254-416255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567671060	chr6:416289-416290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371339062	chr6:416290-416291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73371384	chr6:416311-416312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566527093	chr6:416320-416321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12176562	chr6:416359-416360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371759457	chr6:416360-416361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141130717	chr6:416430-416431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143012251	chr6:416487-416488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12173947	chr6:416489-416490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573781736	chr6:416509-416510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112479775	chr6:416511-416512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575302963	chr6:416518-416519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553044290	chr6:416589-416590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184304000	chr6:416607-416608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572860635	chr6:416631-416632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190817871	chr6:416672-416673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558983833	chr6:416673-416674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141758095	chr6:416695-416696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12174418	chr6:416710-416711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551333946	chr6:416820-416821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560944716	chr6:416827-416828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117813436	chr6:416914-416915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182134449	chr6:416955-416956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112220990	chr6:416973-416974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560703877	chr6:416991-416992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72838767	chr6:417014-417015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377669416	chr6:417021-417022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	18451855	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:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:412000-420800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:412200-422400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:415000-415600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:415600-418200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:417200-417400	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:417200-417800	Bivalent Enhancer	Esophagus	oesophagus
7	chr6:417400-418600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:418600-419000	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:419800-420200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:420200-423400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:421400-421600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:421600-422400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:421600-423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:422000-424200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:422200-422400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:422200-423400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:422200-423600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:422200-423800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:422200-423800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:422400-422600	Active TSS	A549	lung
21	chr6:422400-422800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:422400-422800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:422400-423200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:422400-423400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:422400-423600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:422400-423600	Enhancers	NH-A	brain
27	chr6:422400-423600	Enhancers	Osteobl	bone
28	chr6:422400-423800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:422400-423800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:422400-423800	Enhancers	HepG2	liver
31	chr6:422600-422800	Flanking Active TSS	A549	lung
32	chr6:422600-423000	Enhancers	Thymus	Thymus
33	chr6:422600-423400	Enhancers	NHEK	skin
34	chr6:422600-423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:422600-423600	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:422600-423600	Enhancers	HMEC	breast
37	chr6:422600-423800	Enhancers	GM12878-XiMat	blood
38	chr6:422800-423000	Active TSS	A549	lung
39	chr6:422800-423200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:422800-423600	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:422800-423600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:422800-428000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:423000-423400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:423000-423400	Flanking Active TSS	A549	lung
45	chr6:423000-424200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:423200-423600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:423200-423600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:423200-423600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:423200-423600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:423200-423600	Enhancers	Gastric	stomach

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