Variant report

Variant	nsv562805
Chromosome Location	chr13:98098982-98108361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98101345..98104085-chr13:98121478..98123509,2	K562	blood:
2	chr13:98084014..98088048-chr13:98099535..98102051,4	MCF-7	breast:
3	chr13:98092292..98093986-chr13:98097522..98099677,2	K562	blood:
4	chr13:98092330..98094545-chr13:98105031..98106935,2	MCF-7	breast:
5	chr13:98101269..98103532-chr13:98103985..98105508,2	K562	blood:
6	chr13:98101269..98103532-chr13:98103985..98105508,2	K562	blood:
7	chr13:98086365..98087880-chr13:98096785..98099178,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125249	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9556722	chr13:98098982-98098983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182043845	chr13:98099090-98099091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369440328	chr13:98099175-98099176	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377347971	chr13:98099199-98099200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187593399	chr13:98099234-98099235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138762358	chr13:98099246-98099247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537532287	chr13:98099264-98099265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149374291	chr13:98099298-98099299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559049767	chr13:98099311-98099312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574089082	chr13:98099369-98099370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542622200	chr13:98099416-98099417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370667318	chr13:98099417-98099418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559720626	chr13:98099427-98099428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577924889	chr13:98099428-98099429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573034594	chr13:98099442-98099443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375700280	chr13:98099451-98099452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564731360	chr13:98099453-98099454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530666830	chr13:98099455-98099456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550368172	chr13:98099495-98099496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144758747	chr13:98099503-98099504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190635974	chr13:98099543-98099544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557624968	chr13:98099588-98099589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543569602	chr13:98099683-98099684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117280491	chr13:98099764-98099765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75177904	chr13:98099839-98099840	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542292761	chr13:98099844-98099845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552142208	chr13:98099895-98099896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535672629	chr13:98099900-98099901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530619229	chr13:98099903-98099904	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571865833	chr13:98099921-98099922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181736004	chr13:98099922-98099923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148241093	chr13:98099925-98099926	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9582133	chr13:98100047-98100048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536781556	chr13:98100081-98100082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9582134	chr13:98100090-98100091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186132444	chr13:98100099-98100100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190060331	chr13:98100100-98100101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558386208	chr13:98100147-98100148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142826993	chr13:98100179-98100180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61972801	chr13:98100223-98100224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77929567	chr13:98100227-98100228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373870178	chr13:98100240-98100241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551070164	chr13:98100241-98100242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115300385	chr13:98100273-98100274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374775516	chr13:98100290-98100291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529730958	chr13:98100291-98100292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540356696	chr13:98100466-98100467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369632223	chr13:98100480-98100481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564602047	chr13:98100584-98100585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183363849	chr13:98100599-98100600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98087400-98101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:98087400-98122200	Weak transcription	Gastric	stomach
3	chr13:98087600-98101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:98087600-98104600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:98087600-98116400	Weak transcription	Esophagus	oesophagus
6	chr13:98087600-98124400	Weak transcription	Pancreas	Pancrea
7	chr13:98088400-98101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:98088400-98101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:98088400-98108000	Weak transcription	Fetal Thymus	thymus
10	chr13:98088400-98111600	Weak transcription	Psoas Muscle	Psoas
11	chr13:98088400-98116400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:98088600-98112800	Weak transcription	Thymus	Thymus
13	chr13:98088600-98119600	Weak transcription	NH-A	brain
14	chr13:98088800-98105600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:98088800-98105600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr13:98088800-98111800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:98088800-98116400	Weak transcription	Fetal Intestine Small	intestine
18	chr13:98088800-98118000	Weak transcription	HMEC	breast
19	chr13:98088800-98118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:98088800-98119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:98089000-98100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:98089000-98116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:98089200-98099400	Weak transcription	Primary B cells from cord blood	blood
24	chr13:98089200-98101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:98089200-98105200	Weak transcription	Fetal Intestine Large	intestine
26	chr13:98089200-98111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:98089200-98111800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:98089200-98116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:98089200-98116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:98089200-98116400	Weak transcription	NHEK	skin
31	chr13:98089200-98126600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:98089800-98106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:98089800-98107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:98089800-98107600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:98089800-98122800	Weak transcription	Small Intestine	intestine
36	chr13:98090000-98105600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:98090800-98101000	Weak transcription	Ovary	ovary
38	chr13:98090800-98101600	Weak transcription	Spleen	Spleen
39	chr13:98090800-98103600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr13:98090800-98116400	Weak transcription	Aorta	Aorta
41	chr13:98091000-98111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:98091200-98106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr13:98091200-98112800	Weak transcription	Right Ventricle	heart
44	chr13:98091400-98105200	Weak transcription	Adipose Nuclei	Adipose
45	chr13:98091400-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:98091600-98103600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:98091800-98100600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr13:98091800-98101200	Weak transcription	Fetal Kidney	kidney
49	chr13:98091800-98111600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:98091800-98116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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