Variant report

Variant	nsv981375
Chromosome Location	chr6:146125997-146130212
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:146125227..146127390-chr6:147195010..147197775,2	K562	blood:
2	chr6:146054833..146059237-chr6:146126389..146132897,8	MCF-7	breast:
3	chr6:146125578..146127753-chr6:146287911..146290228,2	K562	blood:
4	chr6:146116668..146118837-chr6:146129546..146132090,2	MCF-7	breast:
5	chr6:146128264..146131082-chr6:146176752..146178262,2	K562	blood:
6	chr6:146128343..146133564-chr6:146134211..146137578,9	MCF-7	breast:
7	chr11:65265648..65267298-chr6:146124589..146126834,2	MCF-7	breast:
8	chr6:146120708..146122690-chr6:146126076..146128209,2	MCF-7	breast:
9	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
10	chr6:146076265..146078727-chr6:146125828..146127450,2	MCF-7	breast:
11	chr6:146088676..146091245-chr6:146126416..146129256,2	K562	blood:
12	chr6:146054602..146056555-chr6:146125014..146127931,2	MCF-7	breast:
13	chr6:146082657..146084474-chr6:146130198..146131949,2	K562	blood:
14	chr6:146109509..146111259-chr6:146124706..146127003,2	K562	blood:
15	chr6:146129217..146132069-chr6:146270897..146273160,2	K562	blood:
16	chr6:146127456..146130857-chr6:146284369..146287201,3	K562	blood:
17	chr6:145965389..145967429-chr6:146126660..146128334,2	K562	blood:
18	chr6:146121190..146123447-chr6:146128257..146129853,2	MCF-7	breast:
19	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270638	chromatin interactions
ENSG00000112425	chromatin interactions
ENSG00000270828	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000235652	chromatin interactions
ENSG00000146414	chromatin interactions
ENSG00000118496	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138300719	chr6:146126003-146126004	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs138471231	chr6:146126005-146126006	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs567622272	chr6:146126012-146126013	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs202071659	chr6:146126017-146126018	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549794776	chr6:146126081-146126082	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs141905579	chr6:146126129-146126130	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs370994230	chr6:146126131-146126132	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs150645956	chr6:146126163-146126164	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs139127963	chr6:146126181-146126182	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs200906244	chr6:146126193-146126194	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs371783420	chr6:146126199-146126200	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374826187	chr6:146126202-146126203	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs367842440	chr6:146126208-146126209	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs372576394	chr6:146126232-146126233	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs377254337	chr6:146126245-146126246	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs149933372	chr6:146126282-146126283	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs147206535	chr6:146126290-146126291	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs140656607	chr6:146126291-146126292	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200343922	chr6:146126310-146126311	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs144190690	chr6:146126373-146126374	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs147780756	chr6:146126394-146126395	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs17075385	chr6:146126397-146126398	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9373475	chr6:146126419-146126420	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs150961850	chr6:146126433-146126434	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs368211050	chr6:146126502-146126503	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs143078736	chr6:146126514-146126515	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs563279700	chr6:146126546-146126547	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs3811103	chr6:146126554-146126555	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs141023654	chr6:146126555-146126556	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs35603594	chr6:146126567-146126568	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs148771547	chr6:146126580-146126581	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs542624611	chr6:146126597-146126598	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs372522301	chr6:146126601-146126602	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs41285849	chr6:146126606-146126607	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs576196802	chr6:146126613-146126614	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375636547	chr6:146126620-146126621	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs150848751	chr6:146126643-146126644	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs527514629	chr6:146126667-146126668	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs369828935	chr6:146126673-146126674	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs547634176	chr6:146126693-146126694	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs561007112	chr6:146126700-146126701	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs145626296	chr6:146126713-146126714	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs529964104	chr6:146126716-146126717	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs201654330	chr6:146126733-146126734	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs201482037	chr6:146126735-146126736	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs201455189	chr6:146126768-146126769	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs138185905	chr6:146126817-146126818	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs149566037	chr6:146126849-146126850	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200388937	chr6:146126870-146126871	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532426956	chr6:146126871-146126872	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Gastric cancer	17908304	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
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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146104600-146127000	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:146105200-146134400	Weak transcription	Thymus	Thymus
3	chr6:146106000-146133600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:146110200-146135000	Weak transcription	Pancreas	Pancrea
5	chr6:146112400-146135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:146113400-146133600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:146113800-146126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:146116400-146126600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:146116800-146126400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:146116800-146128600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:146117200-146126200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:146117400-146130400	Strong transcription	HSMM	muscle
13	chr6:146118400-146126400	Weak transcription	Spleen	Spleen
14	chr6:146118400-146128600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:146119000-146126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:146119200-146134800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:146119400-146126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:146119400-146127600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:146119400-146135000	Weak transcription	Small Intestine	intestine
20	chr6:146119600-146127400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:146120200-146127600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:146120200-146127600	Strong transcription	Dnd41	blood
23	chr6:146120200-146128600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:146120200-146129800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:146120600-146128600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:146121200-146127600	Strong transcription	Osteobl	bone
27	chr6:146121200-146134600	Weak transcription	Colonic Mucosa	Colon
28	chr6:146121200-146134600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:146121400-146130400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:146121400-146135000	Weak transcription	Gastric	stomach
31	chr6:146121600-146127800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:146122200-146127400	Strong transcription	NHLF	lung
33	chr6:146122200-146127600	Strong transcription	Primary B cells from cord blood	blood
34	chr6:146122200-146127600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:146122200-146127600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:146122200-146127600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:146122200-146127600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:146122200-146127600	Strong transcription	HepG2	liver
39	chr6:146122200-146127800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:146122200-146128000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:146122200-146128600	Strong transcription	A549	lung
42	chr6:146122200-146129200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:146122200-146134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:146122400-146126000	Weak transcription	Hela-S3	cervix
45	chr6:146122400-146127400	Strong transcription	Adipose Nuclei	Adipose
46	chr6:146122400-146127400	Strong transcription	Fetal Muscle Leg	muscle
47	chr6:146122400-146127600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:146122400-146127600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:146122400-146127600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr6:146122400-146128600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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