Variant report

Variant	esv1984816
Chromosome Location	chr7:17969541-17969940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17966773..17969755-chr7:17976526..17979737,3	K562	blood:
2	chr7:17965161..17967568-chr7:17969266..17972579,3	K562	blood:
3	chr7:17963843..17966777-chr7:17969342..17971472,2	K562	blood:
4	chr7:17967526..17969640-chr7:17977395..17979886,2	MCF-7	breast:
5	chr7:17967449..17970656-chr7:17972677..17975613,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144464464	chr7:17969555-17969556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11973277	chr7:17969569-17969570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs530628182	chr7:17969571-17969572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551908373	chr7:17969591-17969592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542880815	chr7:17969597-17969598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570259557	chr7:17969644-17969645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148059791	chr7:17969685-17969686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75215884	chr7:17969696-17969697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201616219	chr7:17969697-17969698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367861565	chr7:17969698-17969699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113152041	chr7:17969699-17969700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199605741	chr7:17969700-17969701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200903005	chr7:17969713-17969714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535080183	chr7:17969737-17969738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557652217	chr7:17969738-17969739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370983386	chr7:17969753-17969754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200051794	chr7:17969766-17969767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185109126	chr7:17969774-17969775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376890918	chr7:17969896-17969897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12699918	chr7:17969900-17969901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	20531469	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:17955400-17973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:17959000-17971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:17959600-17972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:17960800-17970200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:17961000-17971200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:17961800-17977400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:17962000-17970200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:17962000-17970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:17962000-17973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:17962000-17975800	Weak transcription	Hela-S3	cervix
14	chr7:17962200-17973200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:17962200-17977400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
17	chr7:17963400-17970200	Weak transcription	Ovary	ovary
18	chr7:17963400-17972400	Weak transcription	Right Ventricle	heart
19	chr7:17963400-17977000	Weak transcription	Fetal Lung	lung
20	chr7:17963400-17977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:17963800-17977800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:17964200-17970400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:17964200-17970800	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:17964200-17971000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:17964400-17969600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:17964800-17970400	Weak transcription	Gastric	stomach
27	chr7:17965000-17970200	Weak transcription	Psoas Muscle	Psoas
28	chr7:17965200-17970600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:17965400-17970200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:17965400-17977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:17965600-17970400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:17966600-17970200	Weak transcription	Left Ventricle	heart
33	chr7:17966600-17970200	Weak transcription	Pancreas	Pancrea
34	chr7:17966600-17970200	Weak transcription	Right Atrium	heart
35	chr7:17966600-17974800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:17967000-17972400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:17967200-17972800	Weak transcription	Spleen	Spleen
38	chr7:17967200-17978800	Weak transcription	Lung	lung
39	chr7:17968000-17971600	Weak transcription	Small Intestine	intestine
40	chr7:17968200-17972200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:17968200-17973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:17968400-17970600	Weak transcription	Fetal Heart	heart
43	chr7:17968800-17975200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:17969000-17970600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:17969000-17971200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr7:17969200-17969600	Enhancers	GM12878-XiMat	blood
47	chr7:17969200-17970200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:17969200-17970400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:17969200-17971600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:17969200-17971800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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