Variant report

Variant	esv3693049
Chromosome Location	chr10:19705383-19738813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19704403..19706854-chr10:20104452..20106050,2	MCF-7	breast:
2	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:
3	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:
4	chr10:19701583..19703629-chr10:19722720..19725656,2	MCF-7	breast:
5	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:
6	chr10:19702800..19704977-chr10:19710060..19711569,2	MCF-7	breast:
7	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:

Variant related genes	Relation type
ENSG00000120594	chromatin interactions

Extended variants
information (count: 1623 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17670074	chr10:19705383-19705384	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77919591	chr10:19705393-19705394	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375280058	chr10:19705407-19705408	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545421969	chr10:19705427-19705428	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564093234	chr10:19705436-19705437	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531547968	chr10:19705457-19705458	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550046078	chr10:19705468-19705469	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145982402	chr10:19705559-19705560	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186758967	chr10:19705562-19705563	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548720917	chr10:19705595-19705596	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148651636	chr10:19705605-19705606	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542516044	chr10:19705639-19705640	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369689790	chr10:19705658-19705659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112190542	chr10:19705667-19705668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142170433	chr10:19705674-19705675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570819953	chr10:19705699-19705700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190467029	chr10:19705700-19705701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75215347	chr10:19705707-19705708	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549374846	chr10:19705772-19705773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568334478	chr10:19705819-19705820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535626254	chr10:19705822-19705823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150789570	chr10:19705835-19705836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78349273	chr10:19705881-19705882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545875454	chr10:19705892-19705893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74118941	chr10:19705987-19705988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575952531	chr10:19706057-19706058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182730480	chr10:19706068-19706069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11009812	chr10:19706122-19706123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529178496	chr10:19706125-19706126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187061048	chr10:19706138-19706139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189956737	chr10:19706274-19706275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35651612	chr10:19706278-19706279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35050272	chr10:19706296-19706297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182541347	chr10:19706376-19706377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573392037	chr10:19706384-19706385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552590401	chr10:19706429-19706430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570769905	chr10:19706476-19706477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534421626	chr10:19706480-19706481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550231053	chr10:19706488-19706489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568444551	chr10:19706498-19706499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556069432	chr10:19706517-19706518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115609093	chr10:19706567-19706568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565931586	chr10:19706572-19706573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189248691	chr10:19706582-19706583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557799062	chr10:19706617-19706618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114083315	chr10:19706622-19706623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543432893	chr10:19706684-19706685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574391993	chr10:19706698-19706699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145313331	chr10:19706739-19706740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544579172	chr10:19706749-19706750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19695400-19739200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19703600-19705400	Enhancers	Liver	Liver
4	chr10:19704800-19706200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:19704800-19706800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:19704800-19707000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:19705000-19705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:19705200-19705400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:19705200-19705400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:19705200-19705600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr10:19705200-19705600	Enhancers	Fetal Intestine Large	intestine
12	chr10:19705200-19705800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr10:19705200-19705800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr10:19705200-19706200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:19705400-19705600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:19705400-19705800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:19705600-19705800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:19705600-19706000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:19705600-19706000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:19705600-19739000	Weak transcription	Fetal Intestine Large	intestine
21	chr10:19705800-19709600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:19705800-19709600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:19705800-19709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:19706000-19709000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:19706000-19709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:19706200-19706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:19706200-19708600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:19706600-19706800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:19706800-19707000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:19706800-19707800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:19706800-19709400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:19707000-19708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:19707800-19708600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr10:19708600-19708800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr10:19708600-19709400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:19708600-19711400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:19708800-19709200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:19708800-19712800	Enhancers	Fetal Lung	lung
39	chr10:19709000-19709200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:19709200-19711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:19709200-19714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:19709400-19711000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:19709400-19711200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr10:19709400-19713000	Enhancers	Fetal Brain Female	brain
45	chr10:19709600-19710200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr10:19709600-19710400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr10:19709600-19711000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:19709600-19711600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:19709800-19711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:19709800-19712800	Enhancers	Brain Germinal Matrix	brain

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