Variant report

Variant	nsv1034792
Chromosome Location	chr6:398148-477288
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:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:291167..293410-chr6:407998..409657,2	MCF-7	breast:
2	chr6:402926..405329-chr6:407204..410322,3	K562	blood:
3	chr6:423338..426540-chr6:426983..429484,4	K562	blood:
4	chr6:394972..397659-chr6:402039..404280,2	MCF-7	breast:
5	chr6:188538..189926-chr6:408487..409481,6	MCF-7	breast:
6	chr6:189816..192061-chr6:402339..404478,2	K562	blood:
7	chr6:414625..416916-chr6:423887..426653,2	K562	blood:
8	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
9	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
10	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
11	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
12	chr6:437166..439679-chr6:441319..444168,2	MCF-7	breast:
13	chr6:446435..449221-chr6:451898..454724,3	K562	blood:
14	chr6:474698..477221-chr6:477805..479723,2	K562	blood:
15	chr6:439020..441406-chr6:445866..448274,2	K562	blood:
16	chr6:414625..416916-chr6:423887..426653,2	K562	blood:
17	chr6:423338..426540-chr6:426983..429484,4	K562	blood:
18	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
19	chr6:355994..357580-chr6:409667..411227,2	K562	blood:
20	chr6:412558..415332-chr6:420167..422817,2	K562	blood:
21	chr6:439020..441406-chr6:445866..448274,2	K562	blood:
22	chr6:328240..330031-chr6:473438..476214,2	MCF-7	breast:
23	chr6:452619..455304-chr6:464046..466915,2	K562	blood:
24	chr6:391251..393259-chr6:408472..411329,2	K562	blood:
25	chr6:285371..287917-chr6:411939..414727,2	MCF-7	breast:
26	chr6:408762..409286-chr6:489445..489959,2	MCF-7	breast:
27	chr6:437166..439679-chr6:441319..444168,2	MCF-7	breast:
28	chr6:351167..352344-chr6:408672..409414,4	MCF-7	breast:
29	chr6:465774..468570-chr6:469900..472566,3	K562	blood:
30	chr6:402138..404117-chr6:404405..405938,2	K562	blood:
31	chr6:290942..293204-chr6:406060..408033,2	MCF-7	breast:
32	chr6:423651..426964-chr6:426983..431390,3	K562	blood:
33	chr6:408215..411894-chr6:412351..416042,4	K562	blood:
34	chr6:440337..442812-chr6:446858..449559,2	MCF-7	breast:
35	chr6:466967..469426-chr6:471037..473019,2	K562	blood:
36	chr6:217204..217743-chr6:408573..409085,2	K562	blood:
37	chr6:412558..415332-chr6:420167..422817,2	K562	blood:
38	chr6:439906..443284-chr6:445258..447366,3	K562	blood:
39	chr6:188540..189516-chr6:407870..409552,18	MCF-7	breast:
40	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
41	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
42	chr6:188512..189290-chr6:408309..409342,5	K562	blood:
43	chr6:328412..329240-chr6:408584..409212,2	MCF-7	breast:
44	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
45	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
46	chr6:408215..411894-chr6:412351..416042,4	K562	blood:
47	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
48	chr6:402926..405329-chr6:407204..410322,3	K562	blood:
49	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
50	chr6:452619..455304-chr6:464046..466915,2	K562	blood:

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

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

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	IRF4	hsa-miR-125b-5p	chr6:408176-408197
2	IRF4	hsa-miR-125b-5p	chr6:408190-408197
3	IRF4	hsa-miR-125b-5p	chr6:410038-410062

Variant related genes	Relation type
ENSG00000112679	chromatin interactions
ENSG00000137265	chromatin interactions

Extended variants
information (count: 4425 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4425 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114847769	chr6:398184-398185	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs73717073	chr6:398185-398186	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2666970	chr6:398242-398243	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530520997	chr6:398287-398288	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs550931360	chr6:398297-398298	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs567547636	chr6:398302-398303	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs540371755	chr6:398378-398379	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs536524723	chr6:398398-398399	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs35441300	chr6:398442-398443	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs147043327	chr6:398449-398450	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs138379213	chr6:398505-398506	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs142450138	chr6:398530-398531	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs559007155	chr6:398539-398540	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs376376910	chr6:398580-398581	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs146971355	chr6:398581-398582	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs554513366	chr6:398675-398676	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76533660	chr6:398684-398685	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs6918132	chr6:398701-398702	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560520981	chr6:398705-398706	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62389394	chr6:398715-398716	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532733760	chr6:398725-398726	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544820372	chr6:398737-398738	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564979546	chr6:398773-398774	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2671422	chr6:398775-398776	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200179171	chr6:398779-398780	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11755347	chr6:398783-398784	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374104208	chr6:398788-398789	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182699737	chr6:398790-398791	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367997652	chr6:398792-398793	Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546870529	chr6:398807-398808	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566596464	chr6:398825-398826	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538810711	chr6:398831-398832	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147454166	chr6:398878-398879	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62389395	chr6:398879-398880	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372005119	chr6:398883-398884	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375133421	chr6:398884-398885	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139276702	chr6:398886-398887	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111845442	chr6:398901-398902	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149628278	chr6:398905-398906	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144395675	chr6:398928-398929	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368235140	chr6:398940-398941	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377756382	chr6:398956-398957	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs41301853	chr6:398965-398966	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76757590	chr6:399002-399003	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574443548	chr6:399014-399015	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116821462	chr6:399050-399051	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1473037	chr6:399079-399080	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577402328	chr6:399100-399101	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370443703	chr6:399110-399111	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568154956	chr6:399149-399150	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	15273396	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:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:391200-400600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:392000-406400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr6:394200-401400	Weak transcription	Spleen	Spleen
4	chr6:394200-403400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:394400-399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:394400-405800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr6:394600-399400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:394600-399800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr6:395000-399000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:395000-399600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:395000-399800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:395000-411200	Weak transcription	Right Atrium	heart
13	chr6:395400-398600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:396000-399000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:396000-401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:396200-398600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:396200-403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:396400-401400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:396600-398600	Weak transcription	Lung	lung
20	chr6:397000-398600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:397000-400400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:397000-400400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:397000-406000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr6:397400-398600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:397800-398400	Strong transcription	Adipose Nuclei	Adipose
26	chr6:397800-398800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:397800-399200	Genic enhancers	Primary T cells from cord blood	blood
28	chr6:397800-400800	Genic enhancers	Primary B cells from cord blood	blood
29	chr6:398000-400400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:398400-408400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:398600-398800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:398600-399000	ZNF genes & repeats	Lung	lung
33	chr6:398600-399400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr6:398600-400400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:398600-401200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:398600-405000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:398600-407400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:398800-399200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr6:398800-408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:399000-399400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr6:399000-400600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:399000-400600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:399000-401200	Weak transcription	Thymus	Thymus
44	chr6:399200-400400	Enhancers	Primary T cells from cord blood	blood
45	chr6:399200-400600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:399400-400400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:399400-401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:399400-403200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:399600-400400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:399800-400200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood

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