Variant report

Variant	esv18902
Chromosome Location	chr7:110820423-110835780
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
2	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
3	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
4	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
5	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
6	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
7	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
8	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:

No data

Extended variants
information (count: 546 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193160720	chr7:110820445-110820446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529610042	chr7:110820508-110820509	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185018884	chr7:110820591-110820592	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367837567	chr7:110820610-110820611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541028669	chr7:110820664-110820665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552974809	chr7:110820681-110820682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562950064	chr7:110820711-110820712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372153164	chr7:110820717-110820718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141679006	chr7:110820794-110820795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146177241	chr7:110820809-110820810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10953683	chr7:110820818-110820819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs188916804	chr7:110820821-110820822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547374926	chr7:110820846-110820847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369886075	chr7:110820865-110820866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10257931	chr7:110820901-110820902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375971561	chr7:110820907-110820908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139132539	chr7:110820958-110820959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556392425	chr7:110820971-110820972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34751986	chr7:110820973-110820974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181964671	chr7:110821000-110821001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538808356	chr7:110821009-110821010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10273636	chr7:110821072-110821073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567329203	chr7:110821073-110821074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541075881	chr7:110821079-110821080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186184406	chr7:110821146-110821147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537889140	chr7:110821159-110821160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574444569	chr7:110821171-110821172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542965637	chr7:110821238-110821239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62466685	chr7:110821276-110821277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143027650	chr7:110821362-110821363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115349936	chr7:110821371-110821372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545565143	chr7:110821386-110821387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188207013	chr7:110821393-110821394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201229957	chr7:110821478-110821479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565075552	chr7:110821543-110821544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76140858	chr7:110821561-110821562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543599744	chr7:110821569-110821570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547438165	chr7:110821574-110821575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567341054	chr7:110821639-110821640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530078384	chr7:110821695-110821696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180759472	chr7:110821727-110821728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4730483	chr7:110821730-110821731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs148758247	chr7:110821746-110821747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552399124	chr7:110821809-110821810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142409654	chr7:110821883-110821884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10262121	chr7:110821906-110821907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554669930	chr7:110821924-110821925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60913915	chr7:110821990-110821991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537029055	chr7:110822055-110822056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139974776	chr7:110822094-110822095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110814000-110830600	Weak transcription	K562	blood
2	chr7:110816400-110830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:110817800-110825200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:110819600-110820600	Strong transcription	Primary T cells from cord blood	blood
5	chr7:110820600-110824600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:110822400-110822600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr7:110822400-110823600	Enhancers	Fetal Lung	lung
8	chr7:110823000-110823800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:110823400-110824000	Enhancers	Fetal Heart	heart
10	chr7:110823400-110824000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:110823600-110823800	Flanking Active TSS	Fetal Lung	lung
12	chr7:110823600-110824000	Enhancers	Fetal Brain Male	brain
13	chr7:110823800-110824000	Enhancers	Fetal Lung	lung
14	chr7:110824000-110824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:110824000-110824800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:110824000-110825000	Weak transcription	Fetal Brain Male	brain
17	chr7:110824000-110825000	Weak transcription	Fetal Heart	heart
18	chr7:110824400-110825400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:110824600-110825400	Enhancers	Primary T cells from cord blood	blood
20	chr7:110825000-110825200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:110825000-110825400	Enhancers	Fetal Heart	heart
22	chr7:110825000-110825400	Enhancers	Psoas Muscle	Psoas
23	chr7:110825200-110825400	Enhancers	Fetal Brain Male	brain
24	chr7:110825200-110825400	Enhancers	NH-A	brain
25	chr7:110825400-110825600	Weak transcription	NH-A	brain
26	chr7:110825400-110833000	Weak transcription	Psoas Muscle	Psoas
27	chr7:110828000-110828400	Enhancers	Gastric	stomach
28	chr7:110830600-110830800	Enhancers	K562	blood
29	chr7:110830800-110831200	Flanking Active TSS	K562	blood
30	chr7:110830800-110831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:110831200-110832000	Enhancers	K562	blood
32	chr7:110831400-110832800	Enhancers	A549	lung
33	chr7:110831600-110832000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:110831800-110833800	Enhancers	Liver	Liver
35	chr7:110832000-110832800	Weak transcription	K562	blood
36	chr7:110832400-110833400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:110832600-110833000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:110832600-110833200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:110832600-110833400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:110832600-110833600	Enhancers	HepG2	liver
41	chr7:110832800-110833000	Enhancers	K562	blood
42	chr7:110832800-110833200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:110832800-110833200	Flanking Active TSS	A549	lung
44	chr7:110832800-110833600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:110833000-110833200	Enhancers	Psoas Muscle	Psoas
46	chr7:110833000-110833400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:110833000-110833600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:110833000-110834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:110833200-110833400	Active TSS	A549	lung
50	chr7:110833200-110833800	Weak transcription	Psoas Muscle	Psoas

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