Variant report

Variant	esv3481486
Chromosome Location	chr8:118873566-118875551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:118875478..118876394-chr8:119340079..119340635,2	MCF-7	breast:
2	chr8:118874390..118877427-chr8:119122549..119125397,3	MCF-7	breast:
3	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:
4	chr8:118875550..118876436-chr8:119132581..119133620,6	MCF-7	breast:
5	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
6	chr8:118874293..118875149-chr8:119132498..119133544,7	MCF-7	breast:
7	chr8:118875539..118876407-chr8:119132500..119133350,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4478606	chr8:118873577-118873578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554081484	chr8:118873610-118873611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193031916	chr8:118873636-118873637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141519116	chr8:118873725-118873726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373654371	chr8:118873752-118873753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28711331	chr8:118873756-118873757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185192701	chr8:118873812-118873813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112686126	chr8:118873846-118873847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4076475	chr8:118873931-118873932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546272148	chr8:118873987-118873988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112513164	chr8:118873999-118874000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188851979	chr8:118874052-118874053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547150280	chr8:118874056-118874057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5894399	chr8:118874121-118874122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs398096079	chr8:118874122-118874123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568607766	chr8:118874164-118874165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529582436	chr8:118874259-118874260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550875594	chr8:118874301-118874302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10098149	chr8:118874307-118874308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs193089232	chr8:118874321-118874322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536092740	chr8:118874371-118874372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117832874	chr8:118874462-118874463	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566545415	chr8:118874501-118874502	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574220948	chr8:118874502-118874503	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10098201	chr8:118874563-118874564	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555532212	chr8:118874657-118874658	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373658437	chr8:118874663-118874664	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185060341	chr8:118874679-118874680	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150916241	chr8:118874785-118874786	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17430427	chr8:118874870-118874871	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575679852	chr8:118874891-118874892	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs17450681	chr8:118874892-118874893	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17430434	chr8:118874895-118874896	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17452847	chr8:118874949-118874950	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375387157	chr8:118874961-118874962	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368300209	chr8:118874984-118874985	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562269096	chr8:118875000-118875001	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371968205	chr8:118875029-118875030	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113968084	chr8:118875075-118875076	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113384128	chr8:118875105-118875106	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573577356	chr8:118875115-118875116	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77228468	chr8:118875132-118875133	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550837119	chr8:118875145-118875146	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569226499	chr8:118875177-118875178	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17503761	chr8:118875201-118875202	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550937351	chr8:118875223-118875224	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566390664	chr8:118875253-118875254	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542843037	chr8:118875257-118875258	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139764654	chr8:118875280-118875281	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567407744	chr8:118875292-118875293	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118860800-118874800	Weak transcription	Lung	lung
2	chr8:118861000-118874200	Weak transcription	A549	lung
3	chr8:118861200-118875000	Weak transcription	Right Ventricle	heart
4	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:118861600-118876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:118863200-118874400	Weak transcription	Stomach Mucosa	stomach
8	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:118863400-118874200	Weak transcription	HSMM	muscle
10	chr8:118863400-118874600	Weak transcription	HUVEC	blood vessel
11	chr8:118863400-118874800	Weak transcription	NH-A	brain
12	chr8:118864200-118874800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:118866600-118874600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:118870000-118874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:118870000-118876000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:118870000-118876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:118870600-118874200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:118871600-118874800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:118871800-118874000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:118872400-118876000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:118872600-118873600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:118872600-118873600	Enhancers	Fetal Stomach	stomach
24	chr8:118872600-118875600	Enhancers	HMEC	breast
25	chr8:118872600-118876000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:118872600-118876400	Enhancers	Colon Smooth Muscle	Colon
27	chr8:118872800-118873600	Enhancers	NHEK	skin
28	chr8:118872800-118874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:118872800-118874600	Weak transcription	Aorta	Aorta
30	chr8:118872800-118876400	Enhancers	Liver	Liver
31	chr8:118873000-118874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:118873000-118875000	Enhancers	Osteobl	bone
33	chr8:118873200-118873800	Weak transcription	NHLF	lung
34	chr8:118873200-118874200	Weak transcription	NHDF-Ad	bronchial
35	chr8:118873200-118874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:118873200-118874400	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:118873200-118874600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:118873200-118874800	Weak transcription	Right Atrium	heart
39	chr8:118873200-118875400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:118873200-118875800	Weak transcription	Small Intestine	intestine
41	chr8:118873200-118876400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118873400-118874400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:118873400-118874600	Weak transcription	Adipose Nuclei	Adipose
44	chr8:118873400-118876200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:118873600-118874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:118873600-118874600	Weak transcription	NHEK	skin
47	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
48	chr8:118873800-118874000	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:118873800-118876200	Enhancers	NHLF	lung
50	chr8:118874000-118875600	Enhancers	Muscle Satellite Cultured Cells	--

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