Variant report

Variant	esv3381784
Chromosome Location	chr8:48223149-48232447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48227531..48228445-chr8:48651152..48652134,4	K562	blood:
2	chr8:48226541..48230936-chr8:48648506..48651986,13	MCF-7	breast:
3	chr8:48226109..48228016-chr8:48649985..48652801,2	K562	blood:
4	chr8:48172365..48174011-chr8:48227850..48230146,2	MCF-7	breast:
5	chr8:48222519..48229115-chr8:48647530..48652731,12	MCF-7	breast:
6	chr8:48223569..48225954-chr8:48642409..48644484,2	MCF-7	breast:
7	chr8:48226109..48228016-chr8:48649982..48652801,3	K562	blood:
8	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
9	chr8:48227501..48228418-chr8:48651135..48652127,2	MCF-7	breast:
10	chr8:48173044..48174594-chr8:48227595..48229177,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221869	chromatin interactions
ENSG00000164808	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376159440	chr8:48223154-48223155	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs587642065	chr8:48223172-48223173	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374420317	chr8:48223178-48223179	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587596530	chr8:48223230-48223231	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587643351	chr8:48223237-48223238	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191482855	chr8:48223245-48223246	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587623391	chr8:48223246-48223247	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113862619	chr8:48223284-48223285	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184330155	chr8:48223310-48223311	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587600370	chr8:48223327-48223328	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370023573	chr8:48223351-48223352	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201351988	chr8:48223380-48223381	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111524434	chr8:48223439-48223440	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587730328	chr8:48223465-48223466	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190387050	chr8:48223488-48223489	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193210720	chr8:48223578-48223579	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112248803	chr8:48223631-48223632	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587620173	chr8:48223668-48223669	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587698172	chr8:48223678-48223679	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587767571	chr8:48223698-48223699	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587611544	chr8:48223706-48223707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145315138	chr8:48223762-48223763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73582860	chr8:48223781-48223782	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116144867	chr8:48223787-48223788	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185530015	chr8:48223857-48223858	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587773758	chr8:48223859-48223860	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147661643	chr8:48223940-48223941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs60858048	chr8:48223988-48223989	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs587602689	chr8:48224057-48224058	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587671970	chr8:48224058-48224059	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587710906	chr8:48224059-48224060	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587714791	chr8:48224076-48224077	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369558539	chr8:48224077-48224078	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587605404	chr8:48224124-48224125	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142377276	chr8:48224129-48224130	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587744984	chr8:48224203-48224204	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373739131	chr8:48224208-48224209	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587630358	chr8:48224252-48224253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587663286	chr8:48224278-48224279	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146526909	chr8:48224325-48224326	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587615815	chr8:48224336-48224337	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587689259	chr8:48224394-48224395	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373127278	chr8:48224398-48224399	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587749788	chr8:48224454-48224455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587622507	chr8:48224577-48224578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376392841	chr8:48224730-48224731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190431706	chr8:48224736-48224737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200485909	chr8:48224757-48224758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587701217	chr8:48224758-48224759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587776165	chr8:48224769-48224770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48199200-48227800	Weak transcription	HMEC	breast
4	chr8:48204400-48227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:48204600-48227000	Weak transcription	K562	blood
6	chr8:48204600-48229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:48205000-48227600	Weak transcription	Hela-S3	cervix
8	chr8:48207200-48231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:48207400-48224200	Weak transcription	Spleen	Spleen
10	chr8:48207400-48224600	Weak transcription	HepG2	liver
11	chr8:48207400-48229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:48207400-48238200	Weak transcription	Aorta	Aorta
13	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:48207600-48227200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:48208400-48227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:48208400-48240000	Weak transcription	Placenta	Placenta
19	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:48209000-48227600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:48209400-48227600	Weak transcription	Osteobl	bone
23	chr8:48209400-48230800	Weak transcription	Brain Substantia Nigra	brain
24	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:48210000-48223200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:48210000-48228000	Weak transcription	Left Ventricle	heart
27	chr8:48210000-48242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:48210600-48243000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:48216200-48224200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:48216200-48224200	Weak transcription	Esophagus	oesophagus
31	chr8:48216200-48227800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:48216200-48228400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:48216200-48228600	Weak transcription	Lung	lung
34	chr8:48216200-48229600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:48216200-48229600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:48216200-48229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:48216200-48229600	Weak transcription	Pancreas	Pancrea
38	chr8:48216200-48229800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:48216200-48249600	Weak transcription	Ovary	ovary
40	chr8:48216200-48252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:48216400-48232200	Weak transcription	Thymus	Thymus
42	chr8:48216600-48229600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:48216800-48229400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:48216800-48242600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:48217400-48231800	Weak transcription	Brain Germinal Matrix	brain
46	chr8:48219400-48229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:48219400-48229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:48219400-48231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:48221400-48223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:48221600-48223400	ZNF genes & repeats	Fetal Intestine Large	intestine

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