Variant report

Variant	nsv538431
Chromosome Location	chr6:119869409-120056608
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:159)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:159 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr6:119877710..119881825-chr6:119881980..119886083,5	K562	blood:
2	chr6:119948119..119949628-chr6:119987885..119989459,2	K562	blood:
3	chr6:119886595..119888334-chr6:119896347..119899016,2	K562	blood:
4	chr6:119886557..119888360-chr6:119890485..119892590,2	K562	blood:
5	chr6:119944693..119946342-chr6:119947208..119949593,2	K562	blood:
6	chr6:119920937..119923540-chr6:119948943..119951782,2	K562	blood:
7	chr6:119669730..119672145-chr6:119907178..119910018,3	MCF-7	breast:
8	chr6:119896440..119899019-chr6:119899614..119901233,2	K562	blood:
9	chr6:119947059..119949590-chr6:119958918..119960859,2	K562	blood:
10	chr6:119901984..119904533-chr6:119906505..119908924,3	K562	blood:
11	chr6:120048345..120051007-chr6:120058358..120060686,2	MCF-7	breast:
12	chr6:119938254..119941760-chr6:119945161..119948947,3	K562	blood:
13	chr6:119789925..119791894-chr6:119924066..119925915,2	MCF-7	breast:
14	chr6:119913316..119915387-chr6:119941334..119943937,2	MCF-7	breast:
15	chr6:119877630..119879253-chr6:119896427..119898133,2	MCF-7	breast:
16	chr6:119889662..119892590-chr6:119892975..119895064,2	K562	blood:
17	chr6:119886809..119890000-chr6:119899522..119901622,3	K562	blood:
18	chr6:119959751..119961414-chr6:119961596..119964388,2	K562	blood:
19	chr1:182573652..182574450-chr6:119934780..119935533,2	MCF-7	breast:
20	chr6:119893616..119895863-chr6:119897291..119899011,2	K562	blood:
21	chr6:119966382..119969352-chr6:119972101..119974844,2	K562	blood:
22	chr6:119949922..119952911-chr6:119994617..119997136,2	MCF-7	breast:
23	chr6:119959751..119961414-chr6:119961596..119964388,2	K562	blood:
24	chr6:119881602..119884975-chr6:119886534..119889602,5	K562	blood:
25	chr6:119671568..119672634-chr6:120040996..120041889,3	MCF-7	breast:
26	chr6:119666514..119668057-chr6:120002574..120005085,2	MCF-7	breast:
27	chr6:119970743..119973175-chr6:119979648..119982056,2	K562	blood:
28	chr6:119975769..119978608-chr6:119981121..119983313,2	MCF-7	breast:
29	chr6:120023056..120025524-chr6:120025606..120027911,2	K562	blood:
30	chr6:119668797..119671749-chr6:120049914..120051588,2	MCF-7	breast:
31	chr6:119942931..119945440-chr6:119949735..119951548,2	K562	blood:
32	chr6:119930273..119931958-chr6:119933352..119935627,2	MCF-7	breast:
33	chr6:119941042..119943563-chr6:119947616..119949679,2	MCF-7	breast:
34	chr6:119944693..119946342-chr6:119947208..119949593,2	K562	blood:
35	chr6:119904409..119907006-chr6:119913661..119916610,3	K562	blood:
36	chr6:119888384..119890000-chr6:119898868..119901022,2	K562	blood:
37	chr6:120033761..120036459-chr6:120036999..120039234,2	MCF-7	breast:
38	chr6:119926625..119928908-chr6:119933015..119935117,2	K562	blood:
39	chr6:119669451..119671711-chr6:119942053..119944896,2	MCF-7	breast:
40	chr6:119887985..119889812-chr6:119892703..119894315,2	K562	blood:
41	chr6:119889158..119891193-chr6:119895559..119898663,3	K562	blood:
42	chr6:119947059..119949590-chr6:119958918..119960859,2	K562	blood:
43	chr6:119949922..119952911-chr6:119994617..119997136,2	MCF-7	breast:
44	chr6:119929475..119932013-chr6:119937447..119940201,2	K562	blood:
45	chr6:119873467..119875883-chr6:119877494..119879434,2	K562	blood:
46	chr6:119941629..119944103-chr6:119947152..119949648,3	MCF-7	breast:
47	chr6:119767617..119768590-chr6:120004189..120004690,2	MCF-7	breast:
48	chr6:119936573..119939342-chr6:119940727..119942239,2	K562	blood:
49	chr6:119955625..119957266-chr6:119960500..119963036,2	K562	blood:
50	chr6:119849420..119852024-chr6:119886180..119888675,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAN1A1-1	chr6:119940963-119941477	NONHSAT114715
2	lnc-ASF1A-3	chr6:120010182-120010205	XLOC_005449
3	lnc-ASF1A-3	chr6:119870973-119871058	XLOC_005449
4	lnc-ASF1A-3	chr6:119871395-119871560	XLOC_005449
5	lnc-ASF1A-3	chr6:119871395-119871560	XLOC_005449
6	lnc-ASF1A-3	chr6:119870973-119871058	XLOC_005449
7	lnc-ASF1A-3	chr6:119916051-119916089	XLOC_005449

No data

Variant related genes	Relation type
ENSG00000111877	chromatin interactions
ENSG00000111885	chromatin interactions
ENSG00000104883	chromatin interactions
ENSG00000253194	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 5394 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:5394 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60275416	chr6:119870805-119870806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555995575	chr6:119870862-119870863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146382763	chr6:119870869-119870870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs978850	chr6:119870906-119870907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575891450	chr6:119870908-119870909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544997228	chr6:119870946-119870947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188790214	chr6:119870987-119870988	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs577266656	chr6:119871010-119871011	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs978849	chr6:119871011-119871012	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549845106	chr6:119871043-119871044	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142658425	chr6:119871063-119871064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193214607	chr6:119871069-119871070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184416737	chr6:119871071-119871072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530222850	chr6:119871180-119871181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553868127	chr6:119871192-119871193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114197016	chr6:119871210-119871211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188182572	chr6:119871218-119871219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180792109	chr6:119871233-119871234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1499568	chr6:119871277-119871278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552620699	chr6:119871304-119871305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566245806	chr6:119871324-119871325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115915026	chr6:119871335-119871336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547085679	chr6:119871337-119871338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1499567	chr6:119871370-119871371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563358179	chr6:119871403-119871404	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535950732	chr6:119871436-119871437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs115103159	chr6:119871450-119871451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529013735	chr6:119871501-119871502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs569578971	chr6:119871509-119871510	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76703354	chr6:119871518-119871519	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1499566	chr6:119871596-119871597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561481811	chr6:119871610-119871611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7756933	chr6:119871617-119871618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534473835	chr6:119871618-119871619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554815372	chr6:119871636-119871637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574955166	chr6:119871642-119871643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114660822	chr6:119871664-119871665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376302014	chr6:119871673-119871674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534527542	chr6:119871698-119871699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184305348	chr6:119871811-119871812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577200606	chr6:119871835-119871836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546465461	chr6:119871885-119871886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559840824	chr6:119871933-119871934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151015266	chr6:119872014-119872015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561025696	chr6:119872024-119872025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116501457	chr6:119872026-119872027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529720225	chr6:119872068-119872069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549499834	chr6:119872078-119872079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530156061	chr6:119872097-119872098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188651104	chr6:119872141-119872142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119870800-119874600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:119873000-119873200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:119873000-119873400	Enhancers	Osteobl	bone
4	chr6:119873000-119873600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:119873000-119873800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:119873000-119873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:119873200-119873600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:119873200-119873800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:119873800-119874000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:119876200-119876600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:119878400-119879000	Enhancers	K562	blood
12	chr6:119879000-119880200	Weak transcription	K562	blood
13	chr6:119879800-119881200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:119880200-119881000	Enhancers	K562	blood
15	chr6:119880200-119881200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:119880800-119881000	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:119881000-119884600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:119886800-119887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:119886800-119887600	Enhancers	NHEK	skin
20	chr6:119887000-119887600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:119887000-119887600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:119887000-119887600	Enhancers	HMEC	breast
23	chr6:119887200-119888000	Enhancers	Esophagus	oesophagus
24	chr6:119887400-119887800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:119887400-119896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:119887800-119888000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr6:119887800-119888000	Flanking Active TSS	K562	blood
28	chr6:119887800-119888200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:119887800-119888400	Active TSS	Brain Angular Gyrus	brain
30	chr6:119887800-119888600	Active TSS	Brain Hippocampus Middle	brain
31	chr6:119887800-119888600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:119888000-119888400	Enhancers	Fetal Brain Male	brain
33	chr6:119888000-119888600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:119888000-119888600	Active TSS	Fetal Brain Female	brain
35	chr6:119888000-119888600	Active TSS	K562	blood
36	chr6:119888200-119888400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:119892400-119892600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:119892600-119894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:119894000-119894200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:119894000-119894200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr6:119896600-119896800	Active TSS	Osteobl	bone
42	chr6:119896600-119897200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:119896600-119897400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:119896600-119897400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:119896600-119897400	Enhancers	HSMM	muscle
46	chr6:119896600-119897400	Enhancers	NH-A	brain
47	chr6:119896600-119897600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:119896600-119897600	Enhancers	HMEC	breast
49	chr6:119896600-119897600	Enhancers	NHEK	skin
50	chr6:119896800-119897000	Enhancers	NHLF	lung

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