Variant report

Variant	esv2757372
Chromosome Location	chr10:19694144-19740635
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	chr10:19702800..19704977-chr10:19710060..19711569,2	MCF-7	breast:
2	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:
3	chr10:18978169..18978867-chr10:19699824..19700403,3	MCF-7	breast:
4	chr10:19701065..19702056-chr10:20076746..20077511,2	MCF-7	breast:
5	chr10:19701583..19703629-chr10:19722720..19725656,2	MCF-7	breast:
6	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:
7	chr10:19701583..19703629-chr10:19722720..19725656,2	MCF-7	breast:
8	chr10:19702800..19704977-chr10:19710060..19711569,2	MCF-7	breast:
9	chr10:19704403..19706854-chr10:20104452..20106050,2	MCF-7	breast:
10	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:
11	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120594	chromatin interactions

Extended variants
information (count: 2168 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2168 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10128424	chr10:19694144-19694145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551257494	chr10:19694247-19694248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140809432	chr10:19694254-19694255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150145356	chr10:19694298-19694299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190728751	chr10:19694306-19694307	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574639516	chr10:19694316-19694317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371357233	chr10:19694340-19694341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563498753	chr10:19694352-19694353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7923557	chr10:19694360-19694361	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562963506	chr10:19694450-19694451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181526709	chr10:19694513-19694514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185832342	chr10:19694543-19694544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74633264	chr10:19694605-19694606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538381128	chr10:19694635-19694636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556689373	chr10:19694651-19694652	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568445492	chr10:19694668-19694669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535441081	chr10:19694683-19694684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554462621	chr10:19694684-19694685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117050145	chr10:19694703-19694704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16918656	chr10:19694706-19694707	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557970789	chr10:19694719-19694720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576227386	chr10:19694751-19694752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543117695	chr10:19694759-19694760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561590665	chr10:19694770-19694771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563978671	chr10:19694775-19694776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370393751	chr10:19694776-19694777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200006431	chr10:19694786-19694787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79748744	chr10:19694787-19694788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398074987	chr10:19694796-19694797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398012952	chr10:19694797-19694798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201491993	chr10:19694799-19694800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573600379	chr10:19694804-19694805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540644380	chr10:19694812-19694813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190207097	chr10:19694813-19694814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533297583	chr10:19694858-19694859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551689434	chr10:19694899-19694900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138629275	chr10:19694923-19694924	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72784329	chr10:19694985-19694986	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550307448	chr10:19694990-19694991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568426753	chr10:19695051-19695052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182757981	chr10:19695070-19695071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146636144	chr10:19695084-19695085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11009787	chr10:19695099-19695100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371304819	chr10:19695107-19695108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547500678	chr10:19695130-19695131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10763994	chr10:19695156-19695157	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140383372	chr10:19695185-19695186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376246817	chr10:19695203-19695204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187867404	chr10:19695241-19695242	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77696737	chr10:19695259-19695260	Strong transcription Weak transcription	n/a	n/a	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19680000-19694200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19689400-19695800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19694200-19695400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr10:19695400-19739200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:19695800-19696200	Strong transcription	Fetal Intestine Large	intestine
7	chr10:19696200-19705200	Weak transcription	Fetal Intestine Large	intestine
8	chr10:19703400-19703600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr10:19703600-19704800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:19703600-19705400	Enhancers	Liver	Liver
11	chr10:19704000-19705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:19704600-19705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:19704800-19705200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr10:19704800-19705200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:19704800-19705200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:19704800-19706200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr10:19704800-19706800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:19704800-19707000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr10:19705000-19705200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr10:19705000-19705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:19705200-19705400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr10:19705200-19705400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:19705200-19705600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr10:19705200-19705600	Enhancers	Fetal Intestine Large	intestine
25	chr10:19705200-19705800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr10:19705200-19705800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr10:19705200-19706200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:19705400-19705600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:19705400-19705800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:19705600-19705800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:19705600-19706000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:19705600-19706000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:19705600-19739000	Weak transcription	Fetal Intestine Large	intestine
34	chr10:19705800-19709600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:19705800-19709600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:19705800-19709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:19706000-19709000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:19706000-19709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:19706200-19706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:19706200-19708600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:19706600-19706800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:19706800-19707000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:19706800-19707800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:19706800-19709400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:19707000-19708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr10:19707800-19708600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr10:19708600-19708800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:19708600-19709400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:19708600-19711400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr10:19708800-19709200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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