Variant report

Variant	nsv608462
Chromosome Location	chr7:136746607-136839390
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:136798840..136800832-chr7:136803946..136805637,2	K562	blood:
2	chr7:136758590..136760294-chr7:136763517..136766034,2	K562	blood:
3	chr7:136798840..136800832-chr7:136803946..136805637,2	K562	blood:
4	chr7:136768600..136771525-chr7:136904072..136906566,2	K562	blood:
5	chr7:136758590..136760294-chr7:136763517..136766034,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-8	chr7:136762787-136763014	NONHSAT123571
2	lnc-PTN-2	chr7:136804504-136805046	ENSG00000234352.5
3	lnc-PTN-6	chr7:136765503-136765733	NONHSAT123573
4	lnc-PTN-7	chr7:136763157-136763358	NONHSAT123572
5	lnc-PTN-2	chr7:136804506-136805046	NONHSAT123574

No data

Extended variants
information (count: 3217 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3217 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550868867	chr7:136752016-136752017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545328279	chr7:136752103-136752104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117590333	chr7:136752110-136752111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533157953	chr7:136752136-136752137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150411431	chr7:136752142-136752143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368449964	chr7:136752144-136752145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141838665	chr7:136752177-136752178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565868868	chr7:136752318-136752319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564737190	chr7:136752319-136752320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375770527	chr7:136752335-136752336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530574514	chr7:136752342-136752343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191202301	chr7:136752349-136752350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568128577	chr7:136752391-136752392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150591048	chr7:136752508-136752509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10246231	chr7:136752524-136752525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117199368	chr7:136752584-136752585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111309625	chr7:136752601-136752602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115779603	chr7:136752635-136752636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546260722	chr7:136752649-136752650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183366793	chr7:136752650-136752651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140560515	chr7:136752664-136752665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551189994	chr7:136752718-136752719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10954570	chr7:136752785-136752786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552056114	chr7:136752830-136752831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571977700	chr7:136752846-136752847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142816894	chr7:136752857-136752858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78848587	chr7:136752858-136752859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537607299	chr7:136752942-136752943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370181156	chr7:136752957-136752958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147395008	chr7:136752965-136752966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540447126	chr7:136752974-136752975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565283351	chr7:136753032-136753033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528528425	chr7:136753049-136753050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548285382	chr7:136753058-136753059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568065384	chr7:136753081-136753082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530981379	chr7:136753182-136753183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201123078	chr7:136753183-136753184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200058136	chr7:136753184-136753185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200980693	chr7:136753185-136753186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554215081	chr7:136753261-136753262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550981677	chr7:136753282-136753283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571158724	chr7:136753286-136753287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187618437	chr7:136753382-136753383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553504973	chr7:136753444-136753445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536787532	chr7:136753480-136753481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76065591	chr7:136753502-136753503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373599827	chr7:136753511-136753512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555506543	chr7:136753531-136753532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190585434	chr7:136753553-136753554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77571733	chr7:136753557-136753558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136752000-136758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:136754000-136754400	Enhancers	Fetal Heart	heart
3	chr7:136754000-136754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:136754000-136754600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:136754000-136754600	Enhancers	Colon Smooth Muscle	Colon
6	chr7:136754000-136754600	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:136754000-136754800	Enhancers	Right Atrium	heart
8	chr7:136754200-136754400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:136754200-136754400	Enhancers	Ovary	ovary
10	chr7:136754200-136754600	Enhancers	Left Ventricle	heart
11	chr7:136754200-136754600	Enhancers	NHLF	lung
12	chr7:136754400-136754600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:136754400-136757800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:136754400-136758200	Weak transcription	Ovary	ovary
15	chr7:136754600-136755600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:136754600-136755600	Weak transcription	NHLF	lung
17	chr7:136754600-136756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:136754600-136765200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:136754800-136755800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:136755200-136755600	Active TSS	Stomach Smooth Muscle	stomach
21	chr7:136755600-136755800	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:136755600-136756200	Enhancers	NHLF	lung
23	chr7:136755800-136756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:136756000-136756800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:136756200-136757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:136756200-136758000	Weak transcription	NHLF	lung
27	chr7:136756800-136757600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:136757400-136760200	Enhancers	NH-A	brain
29	chr7:136757600-136758800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:136757600-136759400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:136757600-136760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:136757800-136758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:136757800-136758800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:136757800-136758800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:136757800-136758800	Enhancers	Hela-S3	cervix
36	chr7:136757800-136759000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:136757800-136759800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:136757800-136760200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:136757800-136760200	Enhancers	Osteobl	bone
40	chr7:136758000-136758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:136758000-136758800	Enhancers	HMEC	breast
42	chr7:136758000-136758800	Enhancers	NHDF-Ad	bronchial
43	chr7:136758000-136759000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:136758000-136759000	Enhancers	HUVEC	blood vessel
45	chr7:136758000-136760000	Enhancers	NHLF	lung
46	chr7:136758200-136758400	Enhancers	Ovary	ovary
47	chr7:136758200-136758600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:136758200-136758600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:136758200-136758600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:136758200-136758800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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