Variant report

Variant	esv275278
Chromosome Location	chr8:10439036-10444775
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
2	chr8:10444505..10445571-chr8:10696284..10697359,4	K562	blood:
3	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
4	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
5	chr8:10444773..10445405-chr8:10656129..10656744,2	MCF-7	breast:
6	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:
7	chr8:10444549..10445532-chr8:10658177..10659296,3	K562	blood:
8	chr8:10444578..10445174-chr8:10671828..10672358,2	MCF-7	breast:
9	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
10	chr8:10437286..10440018-chr8:10695895..10698105,2	K562	blood:
11	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:
12	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
13	chr8:10444435..10445487-chr8:10682600..10683390,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-6	chr8:10442350-10442505	ucscGeneNc_uc010lru_1

No data

Variant related genes	Relation type
ENSG00000258724	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000253695	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531037713	chr8:10439058-10439059	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554467216	chr8:10439063-10439064	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191060647	chr8:10439074-10439075	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs567692588	chr8:10439075-10439076	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs536153663	chr8:10439082-10439083	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546948448	chr8:10439104-10439105	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs183209557	chr8:10439111-10439112	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs73662872	chr8:10439112-10439113	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369477153	chr8:10439123-10439124	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536227860	chr8:10439135-10439136	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558787786	chr8:10439136-10439137	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs575205762	chr8:10439156-10439157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556310091	chr8:10439158-10439159	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs537983038	chr8:10439204-10439205	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576041165	chr8:10439213-10439214	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs78911387	chr8:10439215-10439216	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542899330	chr8:10439232-10439233	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559586411	chr8:10439270-10439271	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573225040	chr8:10439272-10439273	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs545154545	chr8:10439273-10439274	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs115963704	chr8:10439275-10439276	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530900771	chr8:10439277-10439278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147565193	chr8:10439288-10439289	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62490778	chr8:10439289-10439290	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530080690	chr8:10439304-10439305	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547036935	chr8:10439313-10439314	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs566725950	chr8:10439406-10439407	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571284897	chr8:10439421-10439422	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142015730	chr8:10439432-10439433	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs199547020	chr8:10439461-10439462	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs144354591	chr8:10439484-10439485	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs569078562	chr8:10439494-10439495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs537520325	chr8:10439495-10439496	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs554685354	chr8:10439522-10439523	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574465717	chr8:10439543-10439544	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs151192804	chr8:10439553-10439554	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs553356070	chr8:10439573-10439574	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs140333500	chr8:10439608-10439609	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs545337188	chr8:10439647-10439648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572345098	chr8:10439664-10439665	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189035501	chr8:10439665-10439666	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192979994	chr8:10439681-10439682	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs575824883	chr8:10439724-10439725	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553788843	chr8:10439728-10439729	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs372955247	chr8:10439748-10439749	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs185217295	chr8:10439749-10439750	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs533596938	chr8:10439770-10439771	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs540936286	chr8:10439820-10439821	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs530218696	chr8:10439827-10439828	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs150370296	chr8:10439833-10439834	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10437000-10440400	Enhancers	Liver	Liver
2	chr8:10437200-10439400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:10437800-10439800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:10437800-10441400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:10438000-10439800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10438800-10439200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:10438800-10439200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:10439000-10440000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:10439000-10453000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:10439400-10440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10439400-10443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:10439600-10440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:10439600-10440200	Enhancers	NHEK	skin
14	chr8:10439800-10440000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:10439800-10440000	Enhancers	HUVEC	blood vessel
16	chr8:10439800-10440200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:10439800-10440400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:10439800-10445400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:10440000-10440200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:10440000-10440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:10440000-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:10440200-10445000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:10440400-10442000	Weak transcription	HUVEC	blood vessel
24	chr8:10440400-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:10440400-10444800	Weak transcription	Liver	Liver
26	chr8:10441000-10441200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:10441000-10442800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:10441400-10443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:10441600-10442800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:10441600-10443400	Enhancers	Fetal Muscle Leg	muscle
31	chr8:10441800-10442600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:10441800-10443400	Enhancers	Placenta	Placenta
33	chr8:10442000-10442400	Enhancers	Psoas Muscle	Psoas
34	chr8:10442000-10443400	Enhancers	HUVEC	blood vessel
35	chr8:10442200-10442800	Enhancers	Brain Germinal Matrix	brain
36	chr8:10442400-10443000	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr8:10442600-10444000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:10442800-10443200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr8:10442800-10443200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:10442800-10443400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:10442800-10443400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:10443000-10443200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:10443000-10443200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:10443000-10443400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr8:10443000-10443400	Enhancers	Lung	lung
46	chr8:10443200-10443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:10443200-10443600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr8:10443400-10445000	Weak transcription	HUVEC	blood vessel
49	chr8:10443400-10447400	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links