Variant report

Variant	esv1844966
Chromosome Location	chr8:124654332-124660447
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124655670..124657756-chr8:124660016..124662293,2	K562	blood:
2	chr8:124656144..124657737-chr8:124658420..124660682,2	MCF-7	breast:
3	chr8:124651607..124653869-chr8:124656583..124659283,2	MCF-7	breast:
4	chr8:124653035..124654923-chr8:124661285..124663313,2	MCF-7	breast:
5	chr8:124654411..124657402-chr8:124657666..124660616,2	K562	blood:
6	chr8:124606659..124608342-chr8:124651768..124654525,2	MCF-7	breast:
7	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
8	chr8:124658981..124661322-chr8:124661767..124666757,5	MCF-7	breast:
9	chr8:124655670..124657756-chr8:124660016..124662293,2	K562	blood:
10	chr8:124645881..124648835-chr8:124656930..124658613,2	K562	blood:
11	chr8:124656327..124658581-chr8:124667209..124669646,2	MCF-7	breast:
12	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:
13	chr8:124644904..124649137-chr8:124652807..124658443,6	MCF-7	breast:
14	chr8:124643571..124646557-chr8:124651939..124654675,2	MCF-7	breast:
15	chr8:124651070..124655154-chr8:124655316..124659808,4	MCF-7	breast:
16	chr8:124654411..124657402-chr8:124657666..124660616,2	K562	blood:
17	chr8:124656144..124657737-chr8:124658420..124660682,2	MCF-7	breast:
18	chr8:124651070..124655154-chr8:124655316..124659808,4	MCF-7	breast:
19	chr8:124640064..124642206-chr8:124659228..124661300,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175946	chromatin interactions

Extended variants
information (count: 299 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138955590	chr8:124654354-124654355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377734882	chr8:124654356-124654357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373341257	chr8:124654359-124654360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117091729	chr8:124654380-124654381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546862673	chr8:124654405-124654406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373739948	chr8:124654411-124654412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115103268	chr8:124654413-124654414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534564589	chr8:124654417-124654418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73339433	chr8:124654449-124654450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555365488	chr8:124654481-124654482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529040920	chr8:124654501-124654502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79659922	chr8:124654502-124654503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7388387	chr8:124654560-124654561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs558421557	chr8:124654565-124654566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138878878	chr8:124654605-124654606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540406995	chr8:124654611-124654612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560351167	chr8:124654622-124654623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538571759	chr8:124654637-124654638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542735752	chr8:124654650-124654651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556718963	chr8:124654659-124654660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552363325	chr8:124654666-124654667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183447726	chr8:124654684-124654685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7388404	chr8:124654711-124654712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186860752	chr8:124654732-124654733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554999179	chr8:124654741-124654742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191497111	chr8:124654760-124654761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546800979	chr8:124654765-124654766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6470166	chr8:124654778-124654779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6470167	chr8:124654809-124654810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183810325	chr8:124654815-124654816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149650891	chr8:124654816-124654817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537847843	chr8:124654820-124654821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371992468	chr8:124654867-124654868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557499086	chr8:124654939-124654940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566143911	chr8:124655039-124655040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374680898	chr8:124655053-124655054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200038749	chr8:124655061-124655062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78492182	chr8:124655062-124655063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368298129	chr8:124655085-124655086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78876257	chr8:124655127-124655128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544955673	chr8:124655169-124655170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371922323	chr8:124655243-124655244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112888476	chr8:124655244-124655245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77149995	chr8:124655253-124655254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530365815	chr8:124655292-124655293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545363148	chr8:124655304-124655305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370427753	chr8:124655307-124655308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144388408	chr8:124655316-124655317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533228053	chr8:124655344-124655345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373165014	chr8:124655356-124655357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Acute myeloid leukemia	20729466	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
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
Multiple myeloma	17550852	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
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124646000-124655800	Weak transcription	Osteobl	bone
2	chr8:124648800-124656000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:124650200-124655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:124652000-124655800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:124652200-124657800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:124652200-124658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:124652600-124655800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:124653000-124655400	Weak transcription	Aorta	Aorta
9	chr8:124653200-124655000	Weak transcription	Psoas Muscle	Psoas
10	chr8:124653200-124655800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:124653200-124655800	Weak transcription	Right Atrium	heart
12	chr8:124653200-124656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124653200-124656000	Weak transcription	Fetal Lung	lung
14	chr8:124653400-124655800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:124653400-124656400	Weak transcription	HSMMtube	muscle
16	chr8:124653600-124654800	Weak transcription	Fetal Heart	heart
17	chr8:124653600-124655000	Weak transcription	Left Ventricle	heart
18	chr8:124653600-124655000	Weak transcription	Ovary	ovary
19	chr8:124653600-124655000	Weak transcription	Right Ventricle	heart
20	chr8:124653600-124655800	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:124653600-124655800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:124653600-124655800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:124653600-124655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:124653600-124656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:124653600-124656800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:124654000-124655800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:124654800-124656000	Enhancers	Fetal Heart	heart
28	chr8:124655000-124655200	Enhancers	Psoas Muscle	Psoas
29	chr8:124655000-124655200	Enhancers	Right Ventricle	heart
30	chr8:124655000-124657800	Enhancers	Left Ventricle	heart
31	chr8:124655000-124660000	Enhancers	Ovary	ovary
32	chr8:124655200-124655600	Weak transcription	Psoas Muscle	Psoas
33	chr8:124655200-124655600	Weak transcription	Right Ventricle	heart
34	chr8:124655400-124655600	Enhancers	Aorta	Aorta
35	chr8:124655600-124656000	Weak transcription	Aorta	Aorta
36	chr8:124655600-124656400	Enhancers	Psoas Muscle	Psoas
37	chr8:124655600-124657400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:124655600-124658800	Enhancers	Right Ventricle	heart
39	chr8:124655800-124656000	Enhancers	Colon Smooth Muscle	Colon
40	chr8:124655800-124656000	Enhancers	Fetal Muscle Leg	muscle
41	chr8:124655800-124656200	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr8:124655800-124656200	Enhancers	Pancreas	Pancrea
43	chr8:124655800-124656400	Enhancers	Right Atrium	heart
44	chr8:124655800-124656600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:124655800-124656800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:124655800-124656800	Enhancers	Fetal Intestine Large	intestine
47	chr8:124655800-124656800	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:124655800-124657000	Enhancers	Placenta	Placenta
49	chr8:124655800-124657000	Enhancers	Fetal Stomach	stomach
50	chr8:124655800-124657200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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