Variant report

Variant	nsv1032444
Chromosome Location	chr6:142066183-142199093
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:1)
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	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
2	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
3	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:
4	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
5	chr6:141998460..141999421-chr6:142110108..142110780,4	MCF-7	breast:
6	chr6:142134176..142136640-chr6:142390128..142392173,2	K562	blood:
7	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
8	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
9	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:
10	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:
11	chr6:142124743..142126813-chr6:142127411..142130975,3	K562	blood:
12	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
13	chr6:142144546..142146713-chr6:142147636..142149190,2	K562	blood:
14	chr6:142128195..142130687-chr6:142132309..142133838,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-7	chr6:142198752-142199114	NONHSAT115300

No data

Extended variants
information (count: 2767 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2767 , 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	rs189494907	chr6:142066185-142066186	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565538912	chr6:142066193-142066194	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370697293	chr6:142066198-142066199	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182240437	chr6:142066245-142066246	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541590801	chr6:142066278-142066279	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559741418	chr6:142066279-142066280	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530123005	chr6:142066286-142066287	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548235329	chr6:142066294-142066295	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569815819	chr6:142066339-142066340	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530782917	chr6:142066341-142066342	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576421714	chr6:142066355-142066356	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112025230	chr6:142066365-142066366	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151321255	chr6:142066389-142066390	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564478818	chr6:142066405-142066406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533316018	chr6:142066416-142066417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140584573	chr6:142066431-142066432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538605060	chr6:142066464-142066465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77149682	chr6:142066465-142066466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565840415	chr6:142066486-142066487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536455729	chr6:142066492-142066493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111899556	chr6:142066525-142066526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111931985	chr6:142066529-142066530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184423624	chr6:142066537-142066538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375814393	chr6:142066578-142066579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144812369	chr6:142073630-142073631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114077637	chr6:142073631-142073632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112120490	chr6:142073638-142073639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543904659	chr6:142073643-142073644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138684450	chr6:142073656-142073657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533714042	chr6:142073671-142073672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551992713	chr6:142073678-142073679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567026247	chr6:142073710-142073711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115911669	chr6:142073758-142073759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141820992	chr6:142073759-142073760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567668872	chr6:142073780-142073781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569650791	chr6:142073799-142073800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556331596	chr6:142073888-142073889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528886577	chr6:142073927-142073928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568802830	chr6:142073945-142073946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539307552	chr6:142073949-142073950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193034741	chr6:142073960-142073961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572676994	chr6:142073967-142073968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540055518	chr6:142074008-142074009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6926578	chr6:142074024-142074025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573681174	chr6:142074034-142074035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544189620	chr6:142074080-142074081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562381616	chr6:142074157-142074158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540700159	chr6:142074191-142074192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150556551	chr6:142074200-142074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532964258	chr6:142074242-142074243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142065600-142066200	Enhancers	K562	blood
2	chr6:142065800-142066400	ZNF genes & repeats	Fetal Muscle Leg	muscle
3	chr6:142066000-142066600	Enhancers	Dnd41	blood
4	chr6:142073600-142074200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:142073600-142074400	Enhancers	Liver	Liver
6	chr6:142074000-142079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:142074600-142075200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:142079600-142079800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:142079600-142080400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:142079800-142097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:142086600-142087000	Enhancers	Fetal Brain Male	brain
12	chr6:142090200-142090800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:142092200-142094600	Weak transcription	NHLF	lung
14	chr6:142104400-142105400	Enhancers	Liver	Liver
15	chr6:142105400-142108800	Weak transcription	Liver	Liver
16	chr6:142106200-142107000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:142106600-142107200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:142106600-142107400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:142106800-142107200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:142106800-142107200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:142107200-142111800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:142107200-142112200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:142107400-142111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:142108800-142109400	Enhancers	Liver	Liver
25	chr6:142109200-142110000	Enhancers	HepG2	liver
26	chr6:142109400-142109800	Flanking Active TSS	Liver	Liver
27	chr6:142109800-142110000	Enhancers	Liver	Liver
28	chr6:142110600-142110800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:142110600-142111000	ZNF genes & repeats	Pancreas	Pancrea
30	chr6:142110800-142111000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:142111000-142111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:142111800-142112600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:142111800-142112600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:142111800-142112800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:142112200-142112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:142112200-142112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:142112800-142115400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:142124800-142133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:142125000-142125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:142125000-142126800	Enhancers	HSMM	muscle
41	chr6:142125800-142126600	Enhancers	HSMMtube	muscle
42	chr6:142126800-142131000	Weak transcription	HSMM	muscle
43	chr6:142128600-142130000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:142128800-142130000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:142128800-142130200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:142129000-142130200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:142129400-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:142129600-142130000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:142129600-142130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:142129800-142130000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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