Variant report

Variant	esv3436231
Chromosome Location	chr8:105558776-105561524
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	chr8:105560103..105561664-chr8:105601162..105603797,2	K562	blood:
2	chr8:105556248..105558457-chr8:105560436..105562817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253350	chromatin interactions
ENSG00000147650	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185903054	chr8:105558803-105558804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12680652	chr8:105558824-105558825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146725021	chr8:105558873-105558874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574355341	chr8:105558894-105558895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56805203	chr8:105558913-105558914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7819498	chr8:105558914-105558915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553492977	chr8:105558961-105558962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116772693	chr8:105558966-105558967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545623216	chr8:105559056-105559057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563924386	chr8:105559063-105559064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11269520	chr8:105559082-105559083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200806441	chr8:105559111-105559112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111655176	chr8:105559113-105559114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374777967	chr8:105559114-105559115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572712785	chr8:105559137-105559138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531373600	chr8:105559158-105559159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28482075	chr8:105559177-105559178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28750244	chr8:105559178-105559179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189326760	chr8:105559187-105559188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199525976	chr8:105559194-105559195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180931611	chr8:105559199-105559200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200580125	chr8:105559248-105559249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149948312	chr8:105559251-105559252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371477879	chr8:105559278-105559279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201937637	chr8:105559318-105559319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200067648	chr8:105559347-105559348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375207242	chr8:105559413-105559414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530079731	chr8:105559416-105559417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186089002	chr8:105559427-105559428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111216002	chr8:105559444-105559445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566997168	chr8:105559454-105559455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191040301	chr8:105559463-105559464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201475130	chr8:105559475-105559476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369657321	chr8:105559476-105559477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182866223	chr8:105559531-105559532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547592629	chr8:105559576-105559577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374129092	chr8:105559577-105559578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373091903	chr8:105559578-105559579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147973135	chr8:105559580-105559581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565704568	chr8:105559631-105559632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555896209	chr8:105559649-105559650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571080699	chr8:105559652-105559653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185965422	chr8:105559678-105559679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191114313	chr8:105559685-105559686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370116115	chr8:105559693-105559694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556592199	chr8:105559726-105559727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568728413	chr8:105559764-105559765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533269134	chr8:105559795-105559796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535152404	chr8:105559803-105559804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553331578	chr8:105559807-105559808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
4	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
5	chr8:105551000-105565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:105553800-105559000	Enhancers	K562	blood
7	chr8:105555600-105561000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:105556400-105565000	Weak transcription	Dnd41	blood
9	chr8:105557200-105565600	Weak transcription	Fetal Thymus	thymus
10	chr8:105557400-105565000	Weak transcription	Ovary	ovary
11	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
12	chr8:105558000-105565600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:105559000-105565800	Weak transcription	K562	blood
14	chr8:105561000-105561600	Strong transcription	Primary hematopoietic stem cells	blood

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