Variant report

Variant	nsv970135
Chromosome Location	chr6:64200126-64215926
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:64205222..64208212-chr6:64281813..64283896,3	MCF-7	breast:
2	chr6:64201044..64201648-chr6:64281437..64282326,2	MCF-7	breast:
3	chr6:64144526..64145534-chr6:64200616..64201618,23	MCF-7	breast:
4	chr6:64204658..64208127-chr6:64280542..64283611,4	MCF-7	breast:
5	chr6:64144471..64145931-chr6:64200574..64201618,46	MCF-7	breast:
6	chr6:64199086..64201275-chr6:64290295..64292893,2	MCF-7	breast:
7	chr6:64199123..64202971-chr6:64280505..64284483,5	MCF-7	breast:
8	chr6:63948917..63949801-chr6:64200742..64201532,2	MCF-7	breast:
9	chr6:64200698..64201466-chr6:64281404..64282246,3	MCF-7	breast:
10	chr6:64200695..64201556-chr6:64254041..64254926,5	MCF-7	breast:
11	chr6:64215190..64216953-chr6:64279898..64282140,2	MCF-7	breast:
12	chr6:64144543..64145560-chr6:64200616..64201610,32	MCF-7	breast:
13	chr6:64200675..64201588-chr6:64270550..64271368,3	MCF-7	breast:
14	chr6:64200695..64201556-chr6:64254041..64254926,2	MCF-7	breast:
15	chr6:64215756..64221142-chr6:64281924..64284707,6	MCF-7	breast:
16	chr6:64185315..64186254-chr6:64201067..64201636,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTP4A1-3	chr6:64206167-64207183	NONHSAT113347
2	lnc-PTP4A1-2	chr6:64210593-64211255	NONHSAT113348

No data

Variant related genes	Relation type
ENSG00000266680	chromatin interactions
ENSG00000112245	chromatin interactions

Extended variants
information (count: 617 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572938775	chr6:64200151-64200152	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs75953459	chr6:64200161-64200162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555603340	chr6:64200263-64200264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574033856	chr6:64200276-64200277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544087624	chr6:64200295-64200296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562745181	chr6:64200390-64200391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543507558	chr6:64200408-64200409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528356154	chr6:64200438-64200439	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181916794	chr6:64200497-64200498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560461766	chr6:64200506-64200507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527298002	chr6:64200534-64200535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548934574	chr6:64200573-64200574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374957950	chr6:64200605-64200606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560821538	chr6:64200614-64200615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1744158	chr6:64200636-64200637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs184556637	chr6:64200663-64200664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138912695	chr6:64200688-64200689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142908945	chr6:64200762-64200763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370142083	chr6:64200767-64200768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367579363	chr6:64200773-64200774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551675556	chr6:64200853-64200854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566797275	chr6:64200872-64200873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533937539	chr6:64200901-64200902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555694063	chr6:64200907-64200908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573944174	chr6:64200936-64200937	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs75812462	chr6:64200984-64200985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550779120	chr6:64201093-64201094	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556360495	chr6:64201121-64201122	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569298169	chr6:64201146-64201147	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577945278	chr6:64201190-64201191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188924280	chr6:64201246-64201247	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372433404	chr6:64201247-64201248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572321088	chr6:64201292-64201293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115867966	chr6:64201309-64201310	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542265848	chr6:64201346-64201347	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144976057	chr6:64201347-64201348	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs398065872	chr6:64201348-64201349	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75597007	chr6:64201349-64201350	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75611551	chr6:64201350-64201351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531202852	chr6:64201365-64201366	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562790996	chr6:64201398-64201399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148034308	chr6:64201510-64201511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2627796	chr6:64201512-64201513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533373496	chr6:64201513-64201514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1744161	chr6:64201518-64201519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs566834078	chr6:64201537-64201538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534551395	chr6:64201550-64201551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563444663	chr6:64201555-64201556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529207537	chr6:64201579-64201580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537836552	chr6:64201653-64201654	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64197600-64202400	Weak transcription	Stomach Mucosa	stomach
2	chr6:64197600-64202400	Weak transcription	HepG2	liver
3	chr6:64197600-64203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:64198000-64202200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:64198400-64200600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:64198400-64200800	Weak transcription	A549	lung
7	chr6:64198400-64201000	Weak transcription	Liver	Liver
8	chr6:64200000-64201000	Enhancers	Hela-S3	cervix
9	chr6:64200600-64201200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:64200800-64201600	Enhancers	A549	lung
11	chr6:64201000-64201400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:64201000-64201400	Enhancers	Liver	Liver
13	chr6:64201000-64201400	Flanking Active TSS	Hela-S3	cervix
14	chr6:64201000-64203800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:64201200-64201800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:64201400-64202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:64201400-64202600	Weak transcription	Liver	Liver
18	chr6:64201400-64207200	Enhancers	Hela-S3	cervix
19	chr6:64201600-64202000	Weak transcription	A549	lung
20	chr6:64201800-64203600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:64202000-64203800	Enhancers	A549	lung
22	chr6:64202200-64203000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:64202200-64203200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:64202400-64202600	Enhancers	Psoas Muscle	Psoas
25	chr6:64202400-64202600	Enhancers	Small Intestine	intestine
26	chr6:64202400-64202800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:64202400-64203000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:64202400-64203000	Enhancers	Stomach Mucosa	stomach
29	chr6:64202400-64203000	Enhancers	HepG2	liver
30	chr6:64202400-64203200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:64202600-64202800	Enhancers	Liver	Liver
32	chr6:64202600-64203600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:64202800-64203600	Enhancers	Fetal Intestine Small	intestine
34	chr6:64203000-64203400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:64203000-64206000	Weak transcription	HepG2	liver
36	chr6:64203000-64207600	Weak transcription	Stomach Mucosa	stomach
37	chr6:64203200-64203400	Enhancers	Fetal Intestine Large	intestine
38	chr6:64203200-64207200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:64203200-64209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:64203400-64203600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:64203400-64203800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:64203400-64203800	Enhancers	NHEK	skin
43	chr6:64203400-64205200	Weak transcription	Fetal Intestine Large	intestine
44	chr6:64203600-64205400	Weak transcription	Fetal Intestine Small	intestine
45	chr6:64203600-64206800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:64203800-64205800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:64203800-64206200	Weak transcription	A549	lung
48	chr6:64205200-64207000	Enhancers	Fetal Intestine Large	intestine
49	chr6:64205400-64206400	Enhancers	Fetal Intestine Small	intestine
50	chr6:64205800-64207200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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