Variant report

Variant	esv1835302
Chromosome Location	chr8:8573508-8588829
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: 298 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4840352	chr8:8573508-8573509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558935186	chr8:8573556-8573557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114880477	chr8:8573564-8573565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183454025	chr8:8573599-8573600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370726262	chr8:8573606-8573607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578231297	chr8:8573639-8573640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187571241	chr8:8573655-8573656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150255726	chr8:8573680-8573681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374860274	chr8:8573681-8573682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202150799	chr8:8573691-8573692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376900025	chr8:8573700-8573701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61095303	chr8:8573705-8573706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572988530	chr8:8573740-8573741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540451558	chr8:8573749-8573750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544749355	chr8:8573794-8573795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115989141	chr8:8573867-8573868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530414614	chr8:8573917-8573918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13277708	chr8:8573936-8573937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561427929	chr8:8573938-8573939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530289926	chr8:8573966-8573967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546806952	chr8:8574017-8574018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138890143	chr8:8574050-8574051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13267501	chr8:8574058-8574059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs538778840	chr8:8574062-8574063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143113163	chr8:8574177-8574178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113491392	chr8:8574178-8574179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13270006	chr8:8574197-8574198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7011594	chr8:8574211-8574212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138309029	chr8:8574226-8574227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553226237	chr8:8574240-8574241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111459438	chr8:8574256-8574257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545129640	chr8:8574277-8574278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7011770	chr8:8574282-8574283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575253334	chr8:8574296-8574297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543874831	chr8:8574350-8574351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560515345	chr8:8574352-8574353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143804205	chr8:8574378-8574379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7004438	chr8:8574379-8574380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144220998	chr8:8574432-8574433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148699010	chr8:8574456-8574457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35926132	chr8:8574461-8574462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184822870	chr8:8574476-8574477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569253016	chr8:8574489-8574490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531788093	chr8:8574517-8574518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189545898	chr8:8574522-8574523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113963903	chr8:8574550-8574551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536577559	chr8:8574620-8574621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10095733	chr8:8574646-8574647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs566719929	chr8:8574684-8574685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374816284	chr8:8574696-8574697	Enhancers Weak transcription	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:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8571400-8574600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:8572600-8573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:8574200-8574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:8574200-8575000	Weak transcription	NHEK	skin
5	chr8:8574400-8575000	Enhancers	Placenta	Placenta
6	chr8:8575000-8575200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:8575200-8575400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:8575200-8575400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:8575200-8575400	Enhancers	NHEK	skin
10	chr8:8578200-8580200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:8578400-8579200	Enhancers	GM12878-XiMat	blood
12	chr8:8578400-8580000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:8578600-8580000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:8578800-8579000	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr8:8578800-8579200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:8579200-8579400	Weak transcription	GM12878-XiMat	blood
17	chr8:8579400-8579600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:8579600-8580400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr8:8580000-8580600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr8:8580000-8581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr8:8580200-8580400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr8:8580200-8580400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:8580200-8580400	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr8:8580200-8580600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8580200-8581000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr8:8580200-8581200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr8:8580200-8581400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:8580200-8581400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:8580200-8581600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:8580200-8581600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr8:8580400-8580600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr8:8580400-8580600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:8580400-8580600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:8580400-8580600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr8:8580400-8580600	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr8:8580400-8580600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr8:8580400-8580800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr8:8580400-8580800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
43	chr8:8580400-8581000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr8:8580400-8581000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr8:8580400-8581000	Enhancers	Spleen	Spleen
46	chr8:8580400-8581200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:8580400-8581400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr8:8580400-8581400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:8580400-8581400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:8580600-8580800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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