Variant report

Variant	esv1840665
Chromosome Location	chr8:8580453-8588829
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	chr8:8579801..8581466-chr8:8590103..8593043,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFHAS1-1	chr8:8581203-8581244	ENSG00000254367

Extended variants
information (count: 88 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1522839	chr8:8580453-8580454	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191678486	chr8:8580461-8580462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558410267	chr8:8580470-8580471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74529215	chr8:8580488-8580489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555646123	chr8:8580504-8580505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572522247	chr8:8580511-8580512	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73511835	chr8:8580554-8580555	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184133788	chr8:8580562-8580563	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577946175	chr8:8580566-8580567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4840353	chr8:8580570-8580571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188093821	chr8:8580580-8580581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575895295	chr8:8580599-8580600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180948495	chr8:8580606-8580607	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561704931	chr8:8580616-8580617	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527410507	chr8:8580620-8580621	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547161949	chr8:8580648-8580649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185450583	chr8:8580730-8580731	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532960081	chr8:8580756-8580757	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142648598	chr8:8580784-8580785	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570378296	chr8:8580837-8580838	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116490739	chr8:8580852-8580853	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541712747	chr8:8580853-8580854	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549579046	chr8:8580947-8580948	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566123149	chr8:8580954-8580955	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11777719	chr8:8581038-8581039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557969946	chr8:8581063-8581064	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146012063	chr8:8581083-8581084	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs509153	chr8:8581098-8581099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141502281	chr8:8581115-8581116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537059111	chr8:8581116-8581117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190692860	chr8:8581185-8581186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367818444	chr8:8581190-8581191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138631906	chr8:8581207-8581208	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs572138210	chr8:8581319-8581320	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541172469	chr8:8581328-8581329	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564034153	chr8:8581343-8581344	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533023786	chr8:8581360-8581361	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529611000	chr8:8581383-8581384	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563249331	chr8:8581395-8581396	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181498651	chr8:8581403-8581404	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs485107	chr8:8581408-8581409	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs566307971	chr8:8581427-8581428	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs202203680	chr8:8581444-8581445	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs551912274	chr8:8581463-8581464	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs571426647	chr8:8581514-8581515	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs368600727	chr8:8581523-8581524	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs556964528	chr8:8581525-8581526	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs567306157	chr8:8581532-8581533	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs575969059	chr8:8581534-8581535	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs144477172	chr8:8581582-8581583	Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8580000-8580600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
2	chr8:8580000-8581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr8:8580200-8580600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:8580200-8581000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr8:8580200-8581200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:8580200-8581400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:8580200-8581400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:8580200-8581600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:8580200-8581600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr8:8580400-8580600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr8:8580400-8580600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:8580400-8580600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr8:8580400-8580600	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
19	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
20	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr8:8580400-8580800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr8:8580400-8581000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr8:8580400-8581000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr8:8580400-8581000	Enhancers	Spleen	Spleen
25	chr8:8580400-8581200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:8580400-8581400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr8:8580400-8581400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:8580400-8581400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:8580600-8580800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8580600-8580800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:8580600-8580800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:8580600-8580800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:8580600-8580800	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr8:8580600-8580800	Enhancers	Liver	Liver
35	chr8:8580600-8580800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr8:8580600-8580800	Bivalent Enhancer	Fetal Brain Female	brain
37	chr8:8580600-8580800	Enhancers	Pancreas	Pancrea
38	chr8:8580600-8580800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr8:8580600-8580800	Bivalent Enhancer	Psoas Muscle	Psoas
40	chr8:8580600-8580800	Enhancers	Right Ventricle	heart
41	chr8:8580600-8580800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
42	chr8:8580600-8580800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
43	chr8:8580600-8581000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:8580600-8581000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr8:8580600-8581000	Bivalent Enhancer	Placenta	Placenta
46	chr8:8580600-8581000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
47	chr8:8580600-8581000	Active TSS	Right Atrium	heart
48	chr8:8580600-8581200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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