Variant report

Variant	esv2761405
Chromosome Location	chr8:8960271-8967105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8959541..8961848-chr8:8965504..8968046,3	K562	blood:
2	chr8:8956289..8958577-chr8:8959776..8961706,2	MCF-7	breast:
3	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
4	chr8:8958264..8961787-chr8:8977169..8981598,5	MCF-7	breast:
5	chr8:8957877..8959482-chr8:8962692..8965059,2	K562	blood:
6	chr8:8959541..8961848-chr8:8965504..8968046,3	K562	blood:
7	chr8:8930610..8933089-chr8:8960499..8962552,2	MCF-7	breast:
8	chr8:8935123..8936678-chr8:8962823..8964352,2	MCF-7	breast:

Extended variants
information (count: 341 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538969704	chr8:8960306-8960307	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574517076	chr8:8960327-8960328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540231321	chr8:8960353-8960354	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147904464	chr8:8960375-8960376	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577296751	chr8:8960405-8960406	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs546267007	chr8:8960414-8960415	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs562946336	chr8:8960424-8960425	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs78810350	chr8:8960451-8960452	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs181865165	chr8:8960453-8960454	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs147047317	chr8:8960462-8960463	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs372116864	chr8:8960465-8960466	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs550826486	chr8:8960466-8960467	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs527973137	chr8:8960477-8960478	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs375076602	chr8:8960478-8960479	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs547104849	chr8:8960480-8960481	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs565699742	chr8:8960484-8960485	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs6995759	chr8:8960489-8960490	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386722030	chr8:8960499-8960500	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs895252	chr8:8960500-8960501	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs552836728	chr8:8960513-8960514	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs184845627	chr8:8960516-8960517	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs369047237	chr8:8960570-8960571	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs572045625	chr8:8960578-8960579	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs147667253	chr8:8960581-8960582	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs373012585	chr8:8960656-8960657	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs140899967	chr8:8960667-8960668	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs74578462	chr8:8960714-8960715	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs188780204	chr8:8960732-8960733	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs386722031	chr8:8960741-8960742	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs59576472	chr8:8960743-8960744	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542475011	chr8:8960748-8960749	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs373176093	chr8:8960774-8960775	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs562243249	chr8:8960801-8960802	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs528021392	chr8:8960834-8960835	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs548061096	chr8:8960835-8960836	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs563935843	chr8:8960842-8960843	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs181729695	chr8:8960854-8960855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs532894905	chr8:8960874-8960875	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs555362934	chr8:8960877-8960878	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs549633160	chr8:8960893-8960894	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs572750541	chr8:8960900-8960901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs150163647	chr8:8960930-8960931	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs138625256	chr8:8960933-8960934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs554688321	chr8:8960990-8960991	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs1809006	chr8:8961017-8961018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs565537654	chr8:8961058-8961059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs186395070	chr8:8961079-8961080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs376270490	chr8:8961089-8961090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs191240735	chr8:8961092-8961093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs181527309	chr8:8961097-8961098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8954200-8960400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8954200-8960800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:8954600-8961800	Weak transcription	Lung	lung
4	chr8:8955200-8962000	Weak transcription	Gastric	stomach
5	chr8:8956800-8968000	Enhancers	Fetal Intestine Large	intestine
6	chr8:8957200-8963800	Enhancers	Fetal Intestine Small	intestine
7	chr8:8958200-8963800	Enhancers	Stomach Mucosa	stomach
8	chr8:8958800-8960800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:8958800-8960800	Enhancers	Colonic Mucosa	Colon
10	chr8:8958800-8960800	Enhancers	Fetal Lung	lung
11	chr8:8959000-8963400	Enhancers	Liver	Liver
12	chr8:8959200-8960400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:8959200-8960400	Bivalent Enhancer	HepG2	liver
14	chr8:8959200-8962600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:8959400-8960400	Enhancers	Aorta	Aorta
16	chr8:8959400-8960800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:8959400-8960800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:8959400-8960800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:8959400-8961000	Enhancers	Left Ventricle	heart
20	chr8:8959400-8961000	Enhancers	Right Ventricle	heart
21	chr8:8959400-8961200	Enhancers	K562	blood
22	chr8:8959400-8962200	Enhancers	Pancreas	Pancrea
23	chr8:8959600-8960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:8959600-8960800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8959600-8961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:8959600-8963400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:8959800-8960400	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:8959800-8960600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:8959800-8960600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:8959800-8960800	Flanking Active TSS	A549	lung
31	chr8:8959800-8961400	Weak transcription	Small Intestine	intestine
32	chr8:8960000-8960400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:8960000-8960400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:8960000-8960400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:8960000-8960600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:8960000-8960800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:8960200-8960400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:8960200-8960400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:8960200-8960400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:8960200-8960600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:8960200-8960600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:8960200-8960600	Enhancers	Right Atrium	heart
43	chr8:8960200-8960800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:8960200-8960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:8960200-8960800	Enhancers	Fetal Heart	heart
46	chr8:8960200-8961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:8960200-8961400	Weak transcription	Psoas Muscle	Psoas
48	chr8:8960200-8962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:8960400-8960600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:8960400-8960800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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