Variant report

Variant	esv3376403
Chromosome Location	chr8:126624370-126628568
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:2)
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	chr8:126442594..126445786-chr8:126623809..126626952,4	MCF-7	breast:
2	chr8:126619050..126624593-chr8:126625487..126628558,5	MCF-7	breast:
3	chr8:126442492..126444588-chr8:126626090..126628440,2	MCF-7	breast:
4	chr8:126443192..126444984-chr8:126624195..126625824,2	MCF-7	breast:
5	chr8:126619050..126624593-chr8:126625487..126628558,5	MCF-7	breast:
6	chr8:126619524..126621490-chr8:126626488..126629333,2	K562	blood:
7	chr8:126619990..126624184-chr8:126625667..126627988,3	K562	blood:
8	chr8:126624246..126627028-chr8:126627335..126628862,2	MCF-7	breast:
9	chr8:126618476..126621676-chr8:126622245..126624732,3	MCF-7	breast:
10	chr8:126623702..126626459-chr8:126629825..126632775,2	K562	blood:
11	chr8:126606536..126608218-chr8:126626974..126628718,2	MCF-7	breast:
12	chr8:126624246..126627028-chr8:126627335..126628862,2	MCF-7	breast:
13	chr8:126614837..126616782-chr8:126623338..126626219,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIB1-12	chr8:126625712-126626709	NONHSAT128977
2	lnc-TRIB1-12	chr8:126626798-126627375	NONHSAT128977

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61147974	chr8:126624400-126624401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186682106	chr8:126624439-126624440	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79392657	chr8:126624463-126624464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548696536	chr8:126624496-126624497	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193101581	chr8:126624624-126624625	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11783267	chr8:126624689-126624690	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185527577	chr8:126624721-126624722	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142959348	chr8:126624737-126624738	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12680046	chr8:126624749-126624750	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546853049	chr8:126624753-126624754	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567084424	chr8:126624776-126624777	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535188405	chr8:126624835-126624836	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555480754	chr8:126624838-126624839	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574890827	chr8:126624864-126624865	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190349690	chr8:126624894-126624895	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537403767	chr8:126624949-126624950	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569072315	chr8:126624999-126625000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11777118	chr8:126625043-126625044	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115346891	chr8:126625104-126625105	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182091747	chr8:126625108-126625109	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114382178	chr8:126625119-126625120	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573819363	chr8:126625124-126625125	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541952657	chr8:126625145-126625146	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562113955	chr8:126625166-126625167	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531034288	chr8:126625204-126625205	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550957997	chr8:126625237-126625238	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564496870	chr8:126625260-126625261	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs151116889	chr8:126625276-126625277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13282254	chr8:126625317-126625318	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs566945317	chr8:126625425-126625426	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140913008	chr8:126625430-126625431	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549314775	chr8:126625477-126625478	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184279604	chr8:126625484-126625485	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10099902	chr8:126625501-126625502	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146461944	chr8:126625511-126625512	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139120020	chr8:126625520-126625521	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532739931	chr8:126625541-126625542	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76400721	chr8:126625546-126625547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188603602	chr8:126625562-126625563	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141685971	chr8:126625571-126625572	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372734902	chr8:126625603-126625604	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554080222	chr8:126625612-126625613	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13248155	chr8:126625614-126625615	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147067014	chr8:126625639-126625640	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544584771	chr8:126625642-126625643	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138086679	chr8:126625679-126625680	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74317003	chr8:126625693-126625694	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11995177	chr8:126625748-126625749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533407668	chr8:126625749-126625750	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs540568012	chr8:126625750-126625751	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
2	chr8:126618800-126627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:126620200-126627800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:126620600-126625400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:126620800-126625400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:126620800-126625400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:126620800-126625600	Weak transcription	Fetal Brain Male	brain
8	chr8:126620800-126626000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:126621000-126624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:126621000-126625400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:126621000-126625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:126621000-126625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:126621000-126625600	Weak transcription	Fetal Thymus	thymus
14	chr8:126621400-126625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:126621400-126625600	Weak transcription	Fetal Lung	lung
16	chr8:126621600-126624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:126622000-126625800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:126622200-126626400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:126622200-126626600	Weak transcription	Spleen	Spleen
20	chr8:126622400-126624400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:126623200-126625600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:126623600-126624400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:126624000-126628200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:126624400-126624600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:126624400-126624600	Enhancers	Colonic Mucosa	Colon
26	chr8:126624400-126625200	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:126624400-126626000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:126624600-126624800	Enhancers	Fetal Brain Female	brain
29	chr8:126624600-126625000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:126624600-126625600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr8:126624600-126628000	Enhancers	Placenta	Placenta
32	chr8:126624800-126625400	Enhancers	HSMMtube	muscle
33	chr8:126624800-126625800	Weak transcription	Fetal Brain Female	brain
34	chr8:126624800-126625800	Weak transcription	Pancreas	Pancrea
35	chr8:126625000-126625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:126625000-126625400	Enhancers	HSMM	muscle
37	chr8:126625000-126626000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:126625000-126626200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:126625200-126625600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:126625200-126625600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:126625200-126625600	Enhancers	Osteobl	bone
42	chr8:126625200-126626200	Enhancers	NHDF-Ad	bronchial
43	chr8:126625400-126625600	Flanking Active TSS	HSMM	muscle
44	chr8:126625400-126625600	Flanking Active TSS	HSMMtube	muscle
45	chr8:126625400-126626000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:126625400-126626200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr8:126625400-126626200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:126625400-126626200	Enhancers	Brain Substantia Nigra	brain
49	chr8:126625400-126626600	Enhancers	Fetal Muscle Trunk	muscle
50	chr8:126625400-126626600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links