Variant report

Variant	esv1819371
Chromosome Location	chr7:85486009-85513358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548743922	chr7:85487049-85487050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563672287	chr7:85487052-85487053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560570998	chr7:85487104-85487105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76057033	chr7:85487138-85487139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552545740	chr7:85487191-85487192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570829672	chr7:85487197-85487198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2662883	chr7:85487226-85487227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113187889	chr7:85487255-85487256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368784280	chr7:85487256-85487257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542713939	chr7:85487262-85487263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79505723	chr7:85487266-85487267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369791266	chr7:85487278-85487279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531547678	chr7:85487293-85487294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376936460	chr7:85495803-85495804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190067749	chr7:85495835-85495836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12537524	chr7:85495837-85495838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs578075439	chr7:85495861-85495862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545468655	chr7:85495880-85495881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79451324	chr7:85495917-85495918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4613919	chr7:85495955-85495956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543286231	chr7:85495958-85495959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561993308	chr7:85495966-85495967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4560725	chr7:85495992-85495993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs546980315	chr7:85496020-85496021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565296743	chr7:85496066-85496067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532768256	chr7:85496076-85496077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551035159	chr7:85496105-85496106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534614686	chr7:85496106-85496107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148379220	chr7:85496119-85496120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569667553	chr7:85496129-85496130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369488795	chr7:85496163-85496164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537637086	chr7:85496178-85496179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181287516	chr7:85496190-85496191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567948272	chr7:85496194-85496195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78588281	chr7:85496209-85496210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10264149	chr7:85496236-85496237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184048801	chr7:85496245-85496246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149999246	chr7:85496289-85496290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557409578	chr7:85496314-85496315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575676090	chr7:85496317-85496318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61131740	chr7:85496325-85496326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10264488	chr7:85496340-85496341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376332646	chr7:85496352-85496353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552096145	chr7:85496370-85496371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188343277	chr7:85496372-85496373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112205506	chr7:85496381-85496382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180989828	chr7:85496461-85496462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4615498	chr7:85496508-85496509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376625941	chr7:85496521-85496522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550998450	chr7:85496579-85496580	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85487000-85487400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:85495800-85496600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:85496000-85496400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:85503800-85504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:85504000-85504800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:85504200-85504800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:85504800-85505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:85504800-85505200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:85505200-85505400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:85505400-85505600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:85513200-85514800	Enhancers	HUES48 Cell Line	embryonic stem cell

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