Variant report

Variant	esv1797691
Chromosome Location	chr8:8196189-8205124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8191451..8193735-chr8:8198247..8200016,2	MCF-7	breast:
2	chr8:8192658..8194970-chr8:8198409..8200233,2	K562	blood:
3	chr8:8086683..8088508-chr8:8193858..8196209,2	MCF-7	breast:
4	chr8:8193329..8194898-chr8:8200679..8203129,2	K562	blood:
5	chr8:8188047..8190192-chr8:8196636..8199036,2	K562	blood:

Extended variants
information (count: 445 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:445 , 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	rs2980491	chr8:8196189-8196190	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536276195	chr8:8196205-8196206	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552969747	chr8:8196244-8196245	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193128720	chr8:8196254-8196255	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540934177	chr8:8196276-8196277	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368712557	chr8:8196302-8196303	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150731735	chr8:8196307-8196308	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114803579	chr8:8196314-8196315	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556096038	chr8:8196320-8196321	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185705934	chr8:8196326-8196327	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7007943	chr8:8196343-8196344	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114295605	chr8:8196349-8196350	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117424589	chr8:8196350-8196351	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552148375	chr8:8196384-8196385	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190669111	chr8:8196391-8196392	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139015340	chr8:8196419-8196420	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561616391	chr8:8196441-8196442	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181921373	chr8:8196455-8196456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185162575	chr8:8196458-8196459	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59080296	chr8:8196463-8196464	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552906419	chr8:8196475-8196476	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577035087	chr8:8196494-8196495	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188013228	chr8:8196503-8196504	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534603144	chr8:8196508-8196509	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377238805	chr8:8196510-8196511	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146384445	chr8:8196574-8196575	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577753670	chr8:8196587-8196588	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2976861	chr8:8196612-8196613	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs376138322	chr8:8196614-8196615	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs534331008	chr8:8196615-8196616	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs536879332	chr8:8196628-8196629	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs113537114	chr8:8196652-8196653	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs557143526	chr8:8196668-8196669	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs35998859	chr8:8196691-8196692	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs117796086	chr8:8196697-8196698	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs542753670	chr8:8196762-8196763	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs181291664	chr8:8196770-8196771	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs572915927	chr8:8196776-8196777	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs545699337	chr8:8196850-8196851	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565466912	chr8:8196858-8196859	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139696793	chr8:8196874-8196875	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56775625	chr8:8196923-8196924	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76982092	chr8:8196926-8196927	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376693554	chr8:8196954-8196955	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201267063	chr8:8196956-8196957	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368736299	chr8:8196973-8196974	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546738423	chr8:8196989-8196990	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200502737	chr8:8197000-8197001	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377500948	chr8:8197001-8197002	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199636339	chr8:8197002-8197003	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
Non-syndromic sensorineural hearing loss	17122850	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
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8182600-8196800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:8182800-8196200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:8182800-8196400	Weak transcription	Aorta	Aorta
4	chr8:8182800-8215800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:8183000-8197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:8183200-8199400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:8185600-8202200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:8185800-8219600	Weak transcription	Ovary	ovary
9	chr8:8186400-8215800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:8188000-8198800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:8188400-8203800	Weak transcription	Colonic Mucosa	Colon
12	chr8:8189600-8203800	Weak transcription	Right Ventricle	heart
13	chr8:8191600-8196200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:8191600-8196200	Weak transcription	Gastric	stomach
15	chr8:8191600-8196400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:8191600-8196400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:8191600-8200000	Weak transcription	Pancreas	Pancrea
18	chr8:8191600-8203600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:8191800-8200800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:8191800-8203000	Weak transcription	Left Ventricle	heart
21	chr8:8191800-8203000	Weak transcription	Right Atrium	heart
22	chr8:8192000-8196800	Weak transcription	Thymus	Thymus
23	chr8:8192200-8196200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:8192200-8202200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:8192200-8203200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:8192200-8203600	Weak transcription	Brain Substantia Nigra	brain
27	chr8:8192400-8198600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:8192400-8203200	Weak transcription	Small Intestine	intestine
29	chr8:8192600-8198200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:8192600-8202800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:8192800-8198400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:8193400-8196200	Enhancers	K562	blood
33	chr8:8193400-8198600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:8193400-8199000	Strong transcription	Primary B cells from cord blood	blood
35	chr8:8193600-8197000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:8193600-8199000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:8193600-8201000	Genic enhancers	GM12878-XiMat	blood
38	chr8:8193600-8201600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:8193800-8197000	Genic enhancers	Adipose Nuclei	Adipose
40	chr8:8193800-8197200	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr8:8193800-8198000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr8:8193800-8198000	Genic enhancers	HUVEC	blood vessel
43	chr8:8194000-8196800	Genic enhancers	Osteobl	bone
44	chr8:8194000-8197200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr8:8194000-8207400	Weak transcription	Stomach Mucosa	stomach
46	chr8:8194200-8196200	Weak transcription	Fetal Brain Male	brain
47	chr8:8194200-8199200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:8194400-8198200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr8:8194600-8196600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr8:8194600-8197000	Genic enhancers	HepG2	liver

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