Variant report

Variant	esv14266
Chromosome Location	chr8:6708301-6713175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6712654..6715531-chr8:6716503..6718496,2	K562	blood:
2	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
3	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
4	chr8:6708463..6711490-chr8:6770030..6772740,3	MCF-7	breast:

Extended variants
information (count: 432 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545900731	chr8:6708316-6708317	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562856672	chr8:6708332-6708333	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531923716	chr8:6708354-6708355	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548856921	chr8:6708358-6708359	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568719967	chr8:6708367-6708368	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73186400	chr8:6708388-6708389	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529018405	chr8:6708395-6708396	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566585095	chr8:6708427-6708428	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538696399	chr8:6708428-6708429	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562284572	chr8:6708443-6708444	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117470674	chr8:6708453-6708454	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76823585	chr8:6708454-6708455	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537791510	chr8:6708460-6708461	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115931187	chr8:6708466-6708467	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562502090	chr8:6708479-6708480	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111205061	chr8:6708482-6708483	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533753470	chr8:6708483-6708484	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531909430	chr8:6708499-6708500	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577271807	chr8:6708500-6708501	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546240471	chr8:6708505-6708506	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562785509	chr8:6708521-6708522	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576384031	chr8:6708527-6708528	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111205062	chr8:6708540-6708541	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188431631	chr8:6708567-6708568	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527953006	chr8:6708571-6708572	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548030631	chr8:6708574-6708575	ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376894232	chr8:6708632-6708633	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs532116902	chr8:6708636-6708637	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs552239803	chr8:6708639-6708640	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs369619741	chr8:6708644-6708645	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs537833402	chr8:6708659-6708660	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs546529001	chr8:6708674-6708675	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs547750427	chr8:6708686-6708687	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs140868899	chr8:6708688-6708689	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs533791647	chr8:6708697-6708698	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs553562526	chr8:6708698-6708699	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs372017422	chr8:6708700-6708701	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs539596642	chr8:6708709-6708710	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs376584688	chr8:6708732-6708733	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs576390483	chr8:6708737-6708738	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs542256479	chr8:6708741-6708742	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs180692671	chr8:6708751-6708752	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs572778672	chr8:6708754-6708755	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs541703106	chr8:6708763-6708764	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs564709592	chr8:6708779-6708780	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs533568273	chr8:6708789-6708790	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs552013979	chr8:6708802-6708803	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562618634	chr8:6708803-6708804	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370575322	chr8:6708832-6708833	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547786418	chr8:6708836-6708837	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
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
Epilepsy	22083797	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699000-6712600	Weak transcription	Right Atrium	heart
2	chr8:6699400-6708400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:6699400-6709000	Weak transcription	Fetal Thymus	thymus
4	chr8:6699400-6709400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:6699600-6709600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:6699600-6710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:6699800-6710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:6707600-6708400	Genic enhancers	Dnd41	blood
10	chr8:6707600-6708800	Enhancers	Adipose Nuclei	Adipose
11	chr8:6707600-6710800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:6707600-6711000	Enhancers	Placenta	Placenta
13	chr8:6707800-6708600	Enhancers	Gastric	stomach
14	chr8:6707800-6708800	Strong transcription	Fetal Stomach	stomach
15	chr8:6708000-6709200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:6708200-6708400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:6708200-6708800	Strong transcription	Fetal Lung	lung
18	chr8:6708200-6709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:6708200-6709000	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:6708200-6709000	Genic enhancers	Pancreas	Pancrea
21	chr8:6708200-6709000	ZNF genes & repeats	Thymus	Thymus
22	chr8:6708200-6709200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr8:6708200-6709200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:6708200-6709200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr8:6708200-6709200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:6708200-6709200	ZNF genes & repeats	Fetal Kidney	kidney
27	chr8:6708200-6709400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:6708400-6708600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:6708400-6709400	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr8:6708400-6709800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:6708600-6709200	Genic enhancers	Gastric	stomach
32	chr8:6708600-6709400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:6708600-6710000	Enhancers	Esophagus	oesophagus
34	chr8:6708800-6709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:6708800-6709400	Transcr. at gene 5' and 3'	Fetal Lung	lung
36	chr8:6708800-6709800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
38	chr8:6709000-6710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:6709000-6711000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:6709000-6711000	Enhancers	Pancreas	Pancrea
41	chr8:6709000-6712200	Enhancers	Fetal Thymus	thymus
42	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:6709200-6709400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:6709200-6709600	Enhancers	Stomach Mucosa	stomach
45	chr8:6709200-6709800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:6709200-6710000	Weak transcription	Fetal Kidney	kidney
47	chr8:6709200-6710200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:6709200-6710200	Enhancers	A549	lung
49	chr8:6709200-6710400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:6709200-6713000	Enhancers	Gastric	stomach

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