Variant report

Variant	esv1817528
Chromosome Location	chr8:100653252-100685771
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:50389276..50390105-chr8:100654719..100655443,2	MCF-7	breast:
2	chr8:100666079..100668727-chr8:100674262..100677111,3	K562	blood:
3	chr8:100683905..100686290-chr8:100687390..100689544,2	MCF-7	breast:
4	chr8:100629647..100631528-chr8:100671490..100673021,2	K562	blood:
5	chr8:100666079..100668727-chr8:100674262..100677111,3	K562	blood:
6	chr8:100684752..100688418-chr8:100691924..100694879,3	K562	blood:
7	chr8:100662125..100664863-chr8:100667158..100669715,2	MCF-7	breast:
8	chr8:100588643..100590809-chr8:100667230..100669836,2	MCF-7	breast:
9	chr8:100662125..100664863-chr8:100667158..100669715,2	MCF-7	breast:
10	chr8:100651536..100655023-chr8:100656332..100658879,3	K562	blood:
11	chr8:100652613..100655160-chr8:100773640..100775434,2	K562	blood:
12	chr8:100651536..100655023-chr8:100656332..100658879,3	K562	blood:

No data

Extended variants
information (count: 1049 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544891354	chr8:100653291-100653292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149585688	chr8:100653317-100653318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182040786	chr8:100653361-100653362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541162220	chr8:100653408-100653409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72676216	chr8:100653480-100653481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201628993	chr8:100653570-100653571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529717274	chr8:100653604-100653605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559704098	chr8:100653628-100653629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549670503	chr8:100653629-100653630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376753989	chr8:100653669-100653670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149665862	chr8:100653719-100653720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563193517	chr8:100653902-100653903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532068526	chr8:100653917-100653918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16892264	chr8:100653944-100653945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571859887	chr8:100654039-100654040	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144223843	chr8:100654041-100654042	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386834094	chr8:100654074-100654075	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146540735	chr8:100654087-100654088	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139459037	chr8:100654113-100654114	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547179338	chr8:100654144-100654145	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180177363	chr8:100654170-100654171	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534024412	chr8:100654191-100654192	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371961319	chr8:100654203-100654204	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180177364	chr8:100654204-100654205	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201737428	chr8:100654205-100654206	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149954671	chr8:100654235-100654236	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145048987	chr8:100654317-100654318	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144257406	chr8:100654319-100654320	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143115716	chr8:100654320-100654321	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61742808	chr8:100654335-100654336	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141211386	chr8:100654346-100654347	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386834095	chr8:100654356-100654357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117148013	chr8:100654424-100654425	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368851580	chr8:100654425-100654426	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538950670	chr8:100654467-100654468	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386834096	chr8:100654480-100654481	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137901436	chr8:100654489-100654490	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386834097	chr8:100654493-100654494	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35625719	chr8:100654540-100654541	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558464976	chr8:100654541-100654542	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386834098	chr8:100654552-100654553	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141608582	chr8:100654558-100654559	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150272676	chr8:100654559-100654560	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386834099	chr8:100654570-100654571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112749780	chr8:100654579-100654580	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541081770	chr8:100654592-100654593	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138930771	chr8:100654621-100654622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201448190	chr8:100654629-100654630	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186741842	chr8:100654630-100654631	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372340783	chr8:100654650-100654651	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
3	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
5	chr8:100632000-100654000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
9	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:100646000-100657200	Weak transcription	Small Intestine	intestine
12	chr8:100646200-100661800	Weak transcription	Thymus	Thymus
13	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:100646800-100674400	Weak transcription	Dnd41	blood
15	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:100650000-100654000	Weak transcription	Fetal Stomach	stomach
22	chr8:100650000-100654200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:100650000-100654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:100650000-100654400	Weak transcription	Fetal Kidney	kidney
25	chr8:100650000-100654400	Weak transcription	Spleen	Spleen
26	chr8:100650000-100654600	Weak transcription	HSMMtube	muscle
27	chr8:100650000-100657200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:100650000-100657800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:100650000-100657800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:100650000-100673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:100650000-100675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:100650000-100680800	Weak transcription	NHDF-Ad	bronchial
33	chr8:100650000-100681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:100650200-100654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:100650200-100654000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:100650200-100654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:100650200-100654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:100650200-100661200	Weak transcription	Primary T cells from cord blood	blood
39	chr8:100650600-100654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:100650800-100657200	Weak transcription	Fetal Intestine Large	intestine
41	chr8:100650800-100657400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:100651000-100654000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:100651000-100654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:100651000-100655600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:100651000-100657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:100651200-100656200	Weak transcription	Pancreas	Pancrea
47	chr8:100651400-100654000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:100651400-100669000	Weak transcription	Fetal Intestine Small	intestine
49	chr8:100651800-100683000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:100652000-100654000	Weak transcription	Monocytes-CD14+_RO01746	blood

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