Variant report

Variant	esv2761340
Chromosome Location	chr7:79905897-79922486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 607 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548801088	chr7:79905925-79905926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193299823	chr7:79906075-79906076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537580630	chr7:79906093-79906094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368136415	chr7:79906111-79906112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117671716	chr7:79906113-79906114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538734558	chr7:79906206-79906207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374869909	chr7:79906229-79906230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539841505	chr7:79906255-79906256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565823084	chr7:79906285-79906286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184879564	chr7:79906325-79906326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572018863	chr7:79906464-79906465	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs306691	chr7:79906477-79906478	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554384429	chr7:79906550-79906551	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374072061	chr7:79906556-79906557	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150028323	chr7:79906557-79906558	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574277782	chr7:79906563-79906564	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs71526818	chr7:79906574-79906575	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141368988	chr7:79906576-79906577	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs656501	chr7:79906577-79906578	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563420923	chr7:79906678-79906679	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186900522	chr7:79906704-79906705	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575741452	chr7:79906741-79906742	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545795918	chr7:79906771-79906772	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559043142	chr7:79906815-79906816	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544837885	chr7:79906876-79906877	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs17153688	chr7:79906929-79906930	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548888845	chr7:79906931-79906932	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562300360	chr7:79906974-79906975	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs199982459	chr7:79906981-79906982	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551187099	chr7:79907024-79907025	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531105963	chr7:79907061-79907062	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550867371	chr7:79907079-79907080	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116582241	chr7:79907114-79907115	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539509017	chr7:79907182-79907183	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149644124	chr7:79907196-79907197	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144322369	chr7:79907211-79907212	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571202425	chr7:79907226-79907227	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542183967	chr7:79907261-79907262	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs306690	chr7:79907289-79907290	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373903051	chr7:79907304-79907305	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191314924	chr7:79907325-79907326	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184228720	chr7:79907480-79907481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537263967	chr7:79907552-79907553	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148777501	chr7:79907614-79907615	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576872401	chr7:79907660-79907661	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188513112	chr7:79907678-79907679	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143250369	chr7:79907719-79907720	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6467090	chr7:79907770-79907771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79873455	chr7:79907793-79907794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs207468124	chr7:79907806-79907807	Enhancers Flanking Active TSS Weak transcription Active TSS	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
Williams Syndrome	20824207	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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79898800-79911000	Weak transcription	Small Intestine	intestine
2	chr7:79901600-79908000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:79902400-79906400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:79903400-79906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:79903400-79907200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:79903600-79906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:79903600-79906000	Weak transcription	NHEK	skin
8	chr7:79903600-79906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:79903600-79906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:79903600-79906600	Weak transcription	Adipose Nuclei	Adipose
11	chr7:79904200-79907000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:79904800-79906600	Weak transcription	NHLF	lung
13	chr7:79905000-79906000	Weak transcription	A549	lung
14	chr7:79905600-79906400	Weak transcription	Ovary	ovary
15	chr7:79905600-79911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:79905800-79906000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:79905800-79906200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:79905800-79906400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:79905800-79906800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:79905800-79909000	Weak transcription	Left Ventricle	heart
21	chr7:79905800-79909400	Enhancers	Hela-S3	cervix
22	chr7:79906000-79906400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:79906000-79906400	Enhancers	A549	lung
24	chr7:79906000-79906600	Enhancers	NHEK	skin
25	chr7:79906000-79907000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:79906000-79907200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:79906200-79910200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:79906400-79906600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:79906400-79906600	Enhancers	Ovary	ovary
30	chr7:79906400-79907000	Flanking Active TSS	A549	lung
31	chr7:79906400-79907200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:79906400-79907400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:79906400-79907600	Enhancers	HMEC	breast
34	chr7:79906400-79907800	Enhancers	Fetal Lung	lung
35	chr7:79906400-79908000	Enhancers	Fetal Intestine Large	intestine
36	chr7:79906400-79908000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr7:79906400-79908400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:79906400-79908400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:79906400-79908400	Enhancers	Fetal Kidney	kidney
40	chr7:79906400-79909000	Enhancers	Colon Smooth Muscle	Colon
41	chr7:79906400-79909400	Enhancers	Fetal Intestine Small	intestine
42	chr7:79906600-79907000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:79906600-79907000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:79906600-79907200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:79906600-79907200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:79906600-79907200	Weak transcription	Ovary	ovary
47	chr7:79906600-79907400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:79906600-79907400	Enhancers	Brain Hippocampus Middle	brain
49	chr7:79906600-79907600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:79906600-79907800	Enhancers	NHLF	lung

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