Variant report

Variant	nsv508484
Chromosome Location	chr7:136333249-136384790
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:136090648..136091291-chr7:136372401..136373004,2	MCF-7	breast:
2	chr7:136372346..136372966-chr7:137276780..137277565,2	MCF-7	breast:
3	chr7:136090684..136091633-chr7:136372247..136373374,4	MCF-7	breast:
4	chr7:136372956..136375768-chr7:136383201..136386200,2	K562	blood:
5	chr7:136382112..136384262-chr7:136388316..136390173,2	K562	blood:
6	chr7:136372956..136375768-chr7:136383201..136386200,2	K562	blood:
7	chr7:135485495..135485999-chr7:136372640..136373174,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-2	chr7:136372581-136372666	ENSG00000234352.5
2	lnc-PTN-2	chr7:136370306-136370588	ENSG00000234352.5

No data

Extended variants
information (count: 1244 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576168260	chr7:136336642-136336643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373374434	chr7:136336645-136336646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545078621	chr7:136336656-136336657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2350183	chr7:136336658-136336659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572618947	chr7:136336671-136336672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147788429	chr7:136336737-136336738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185444098	chr7:136336774-136336775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573544313	chr7:136336809-136336810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530291060	chr7:136336852-136336853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190299183	chr7:136336900-136336901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539363241	chr7:136336942-136336943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532273191	chr7:136336946-136336947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181384053	chr7:136336953-136336954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565603604	chr7:136336956-136336957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117147988	chr7:136337093-136337094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185471379	chr7:136337157-136337158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200806094	chr7:136337158-136337159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35203168	chr7:136337159-136337160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141148162	chr7:136337189-136337190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536936676	chr7:136337219-136337220	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534316480	chr7:136337258-136337259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556183250	chr7:136337260-136337261	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569701922	chr7:136337302-136337303	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538615909	chr7:136337372-136337373	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559033638	chr7:136337427-136337428	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572405304	chr7:136337473-136337474	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541623434	chr7:136337487-136337488	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544380865	chr7:136337519-136337520	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575258396	chr7:136337521-136337522	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544108932	chr7:136337526-136337527	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563305095	chr7:136337553-136337554	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544376024	chr7:136337556-136337557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10262230	chr7:136337566-136337567	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574474226	chr7:136337569-136337570	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540197958	chr7:136337588-136337589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10232963	chr7:136337608-136337609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144978563	chr7:136337612-136337613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559401960	chr7:136337634-136337635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367636795	chr7:136337657-136337658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144888395	chr7:136337713-136337714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370685640	chr7:136337760-136337761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200204911	chr7:136337836-136337837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59942822	chr7:136337844-136337845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548404047	chr7:136337849-136337850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568158129	chr7:136337861-136337862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530749638	chr7:136337887-136337888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188724540	chr7:136337949-136337950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570387767	chr7:136337966-136337967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538654115	chr7:136337987-136337988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368833637	chr7:136338000-136338001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136336600-136337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:136336600-136337200	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:136336800-136337200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:136336800-136337600	Enhancers	Colon Smooth Muscle	Colon
5	chr7:136336800-136338800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:136337000-136337400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:136337000-136337600	Enhancers	Stomach Smooth Muscle	stomach
8	chr7:136337200-136337600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:136337200-136337600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:136337200-136341600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:136337400-136338200	Enhancers	NH-A	brain
12	chr7:136337600-136340000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:136337600-136341400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:136338200-136339000	Weak transcription	NH-A	brain
15	chr7:136339000-136339600	Enhancers	NH-A	brain
16	chr7:136341400-136342800	Enhancers	Colon Smooth Muscle	Colon
17	chr7:136341600-136343000	Enhancers	Fetal Stomach	stomach
18	chr7:136341600-136343000	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:136341800-136342200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:136342000-136342200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:136342200-136342600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:136342600-136344000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:136342800-136343000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:136348800-136351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:136349000-136349200	Enhancers	Primary hematopoietic stem cells	blood
26	chr7:136349000-136351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:136349200-136351200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:136349400-136350200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:136350200-136351000	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:136350600-136351200	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:136350600-136351400	Enhancers	Colon Smooth Muscle	Colon
32	chr7:136351400-136356600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:136356600-136357000	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr7:136361800-136362000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:136361800-136362800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:136361800-136362800	Enhancers	NHLF	lung
37	chr7:136361800-136363200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:136361800-136363400	Enhancers	HMEC	breast
39	chr7:136362000-136362600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:136362000-136362600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:136362000-136362800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:136362000-136363000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:136362000-136363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:136362000-136363000	Enhancers	Dnd41	blood
45	chr7:136362000-136363000	Enhancers	Hela-S3	cervix
46	chr7:136362000-136363200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:136362000-136363200	Enhancers	NH-A	brain
48	chr7:136362200-136362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:136362200-136362800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:136362200-136362800	Enhancers	Adipose Nuclei	Adipose

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