Variant report

Variant	esv3515307
Chromosome Location	chr13:98103758-98108517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98101269..98103532-chr13:98103985..98105508,2	K562	blood:
2	chr13:98092330..98094545-chr13:98105031..98106935,2	MCF-7	breast:
3	chr13:98101345..98104085-chr13:98121478..98123509,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562603316	chr13:98103789-98103790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531728206	chr13:98103810-98103811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190768012	chr13:98103851-98103852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77382861	chr13:98103917-98103918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143973263	chr13:98103919-98103920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201745438	chr13:98103920-98103921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534083500	chr13:98103926-98103927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145529817	chr13:98103941-98103942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570761343	chr13:98104039-98104040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183010798	chr13:98104047-98104048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114166170	chr13:98104070-98104071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185104617	chr13:98104084-98104085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575780940	chr13:98104085-98104086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77741153	chr13:98104089-98104090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555328410	chr13:98104135-98104136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190699375	chr13:98104180-98104181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540523954	chr13:98104288-98104289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116023839	chr13:98104312-98104313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577130085	chr13:98104350-98104351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545953495	chr13:98104373-98104374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148550319	chr13:98104388-98104389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375724628	chr13:98104396-98104397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557087937	chr13:98104521-98104522	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531816148	chr13:98104547-98104548	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368820665	chr13:98104660-98104661	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541997870	chr13:98104771-98104772	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562109335	chr13:98104783-98104784	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577769319	chr13:98104792-98104793	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536879331	chr13:98104863-98104864	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547820074	chr13:98104869-98104870	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183350268	chr13:98104870-98104871	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61972803	chr13:98104877-98104878	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7329415	chr13:98104902-98104903	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs72637628	chr13:98104904-98104905	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375799676	chr13:98104905-98104906	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143465312	chr13:98104914-98104915	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536881103	chr13:98104921-98104922	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71117647	chr13:98104924-98104925	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549982287	chr13:98104930-98104931	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569787042	chr13:98104931-98104932	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535527091	chr13:98104970-98104971	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs187250845	chr13:98105016-98105017	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565772000	chr13:98105018-98105019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs193184273	chr13:98105033-98105034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534934780	chr13:98105164-98105165	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11618857	chr13:98105176-98105177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373367009	chr13:98105266-98105267	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370045736	chr13:98105288-98105289	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535941210	chr13:98105300-98105301	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7335097	chr13:98105345-98105346	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
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:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98087400-98122200	Weak transcription	Gastric	stomach
2	chr13:98087600-98104600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:98087600-98116400	Weak transcription	Esophagus	oesophagus
4	chr13:98087600-98124400	Weak transcription	Pancreas	Pancrea
5	chr13:98088400-98108000	Weak transcription	Fetal Thymus	thymus
6	chr13:98088400-98111600	Weak transcription	Psoas Muscle	Psoas
7	chr13:98088400-98116400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:98088600-98112800	Weak transcription	Thymus	Thymus
9	chr13:98088600-98119600	Weak transcription	NH-A	brain
10	chr13:98088800-98105600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:98088800-98105600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr13:98088800-98111800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr13:98088800-98116400	Weak transcription	Fetal Intestine Small	intestine
14	chr13:98088800-98118000	Weak transcription	HMEC	breast
15	chr13:98088800-98118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:98088800-98119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:98089000-98116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:98089200-98105200	Weak transcription	Fetal Intestine Large	intestine
19	chr13:98089200-98111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:98089200-98111800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:98089200-98116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:98089200-98116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:98089200-98116400	Weak transcription	NHEK	skin
24	chr13:98089200-98126600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:98089800-98106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:98089800-98107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:98089800-98107600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:98089800-98122800	Weak transcription	Small Intestine	intestine
29	chr13:98090000-98105600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr13:98090800-98116400	Weak transcription	Aorta	Aorta
31	chr13:98091000-98111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:98091200-98106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:98091200-98112800	Weak transcription	Right Ventricle	heart
34	chr13:98091400-98105200	Weak transcription	Adipose Nuclei	Adipose
35	chr13:98091400-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:98091800-98111600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:98091800-98116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:98091800-98116400	Weak transcription	HUVEC	blood vessel
39	chr13:98091800-98123000	Weak transcription	HSMM	muscle
40	chr13:98092000-98107200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:98092000-98110600	Weak transcription	Fetal Heart	heart
42	chr13:98092000-98111800	Weak transcription	Fetal Brain Male	brain
43	chr13:98092000-98115200	Weak transcription	HepG2	liver
44	chr13:98092000-98116400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:98092400-98108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:98092800-98111600	Weak transcription	Placenta	Placenta
47	chr13:98093400-98106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:98093600-98111400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:98093800-98105400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:98093800-98105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links