Variant report

Variant	esv1833005
Chromosome Location	chr13:70090874-70180509
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:70159737..70160485-chr3:63899719..63900444,2	MCF-7	breast:
2	chr13:70111760..70112275-chr13:70431222..70431945,2	K562	blood:
3	chr13:70111047..70112123-chr13:70431019..70432110,4	MCF-7	breast:
4	chr13:70145786..70147691-chr13:70150305..70153180,2	K562	blood:
5	chr13:70153553..70154097-chr13:70431151..70432026,2	MCF-7	breast:
6	chr13:70138280..70140328-chr13:70148714..70150548,2	MCF-7	breast:
7	chr13:70138280..70140328-chr13:70148714..70150548,2	MCF-7	breast:
8	chr13:70145786..70147691-chr13:70150305..70153180,2	K562	blood:
9	chr13:70159894..70160626-chr13:70431095..70431958,2	MCF-7	breast:
10	chr13:70139732..70140265-chr13:71142279..71142907,2	MCF-7	breast:
11	chr13:70139358..70139986-chr13:70431208..70431784,2	MCF-7	breast:

No data

Extended variants
information (count: 1886 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184324211	chr13:70092633-70092634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568707425	chr13:70092666-70092667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534489317	chr13:70092683-70092684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535170618	chr13:70092751-70092752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570734080	chr13:70092753-70092754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539609353	chr13:70092758-70092759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151337778	chr13:70092799-70092800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576037693	chr13:70092835-70092836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541505759	chr13:70092850-70092851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140598548	chr13:70092896-70092897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572287092	chr13:70092897-70092898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111827973	chr13:70092934-70092935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35096701	chr13:70092939-70092940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548300052	chr13:70092948-70092949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187223163	chr13:70092957-70092958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560039120	chr13:70092998-70092999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537778953	chr13:70098606-70098607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113215871	chr13:70098622-70098623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149007376	chr13:70098644-70098645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575849340	chr13:70098674-70098675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538103061	chr13:70098769-70098770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113523361	chr13:70098833-70098834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556077787	chr13:70098865-70098866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550541	chr13:70098904-70098905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183270709	chr13:70098907-70098908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574309532	chr13:70098909-70098910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541632263	chr13:70098915-70098916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186235821	chr13:70098931-70098932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572115549	chr13:70098960-70098961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576449095	chr13:70098962-70098963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5804439	chr13:70098995-70098996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376781344	chr13:70098997-70098998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2325231	chr13:70098999-70099000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545744936	chr13:70099068-70099069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191498558	chr13:70099070-70099071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531622536	chr13:70099072-70099073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144474450	chr13:70099079-70099080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17611230	chr13:70099166-70099167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527454520	chr13:70099176-70099177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75042188	chr13:70099216-70099217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566929780	chr13:70099255-70099256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577835938	chr13:70099277-70099278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532555814	chr13:70099284-70099285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9541966	chr13:70099330-70099331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569490692	chr13:70099340-70099341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146426935	chr13:70099351-70099352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115361879	chr13:70099355-70099356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568340746	chr13:70099368-70099369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534094961	chr13:70099373-70099374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543785212	chr13:70099409-70099410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70092600-70093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:70098600-70099400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:70098800-70099200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:70099000-70099400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:70099000-70099400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr13:70099000-70099400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:70099400-70101600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:70101600-70102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:70104600-70104800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:70105000-70110800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:70110800-70111000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:70115400-70115800	Enhancers	Liver	Liver
13	chr13:70117600-70118000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:70118000-70119200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:70119000-70119800	Enhancers	Fetal Intestine Small	intestine
16	chr13:70119000-70119800	Enhancers	Stomach Mucosa	stomach
17	chr13:70119200-70119400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr13:70119400-70119600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:70119400-70120000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:70119400-70121000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:70119800-70122000	Weak transcription	Stomach Mucosa	stomach
22	chr13:70121000-70122600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr13:70122000-70122400	Enhancers	Stomach Mucosa	stomach
24	chr13:70129000-70129200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:70129200-70137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:70130200-70131000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:70130400-70131000	Enhancers	Hela-S3	cervix
28	chr13:70136800-70137000	Enhancers	Lung	lung
29	chr13:70145600-70146000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr13:70145600-70146400	Enhancers	Liver	Liver
31	chr13:70153600-70154600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:70153600-70155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:70153600-70155200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:70153800-70154200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:70153800-70154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:70153800-70154600	Enhancers	Liver	Liver
37	chr13:70153800-70154800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:70153800-70154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:70153800-70155000	Enhancers	HMEC	breast
40	chr13:70153800-70155200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:70154000-70154200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:70154000-70154600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:70154000-70154800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:70154200-70154800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr13:70154200-70154800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:70154200-70154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:70154200-70156000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:70154600-70155000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:70155000-70159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr13:70155200-70159600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links