Variant report

Variant	esv1823135
Chromosome Location	chr8:125095089-125104587
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125093878..125096444-chr8:125098897..125100549,2	K562	blood:
2	chr8:125102376..125106227-chr8:125106854..125110731,4	MCF-7	breast:
3	chr8:125093878..125096444-chr8:125098897..125100549,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM65-5	chr8:125097294-125097463	ucscGeneNc_uc003yqx_1
2	lnc-TMEM65-5	chr8:125095704-125095895	ucscGeneNc_uc003yqx_1
3	lnc-TMEM65-5	chr8:125095015-125095131	ucscGeneNc_uc003yqx_1

No data

Extended variants
information (count: 366 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:366 , 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	rs113327879	chr8:125095089-125095090	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs533223248	chr8:125095093-125095094	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540525421	chr8:125095094-125095095	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560437495	chr8:125095108-125095109	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs562968505	chr8:125095140-125095141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373651995	chr8:125095145-125095146	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529061296	chr8:125095199-125095200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549076269	chr8:125095213-125095214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202086447	chr8:125095244-125095245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199998494	chr8:125095245-125095246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201136323	chr8:125095250-125095251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10633345	chr8:125095251-125095252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397696576	chr8:125095259-125095260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201732712	chr8:125095260-125095261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200077330	chr8:125095274-125095275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs68137483	chr8:125095275-125095276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397815623	chr8:125095276-125095277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76332102	chr8:125095279-125095280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554236697	chr8:125095370-125095371	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144910443	chr8:125095376-125095377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72343098	chr8:125095409-125095410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542617227	chr8:125095411-125095412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199814229	chr8:125095412-125095413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113834807	chr8:125095450-125095451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561281360	chr8:125095477-125095478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371272886	chr8:125095478-125095479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551046900	chr8:125095503-125095504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570898407	chr8:125095511-125095512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141514261	chr8:125095574-125095575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554024497	chr8:125095609-125095610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57265559	chr8:125095655-125095656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74651757	chr8:125095661-125095662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192041529	chr8:125095712-125095713	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184589607	chr8:125095738-125095739	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs188523162	chr8:125095751-125095752	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs541213779	chr8:125095780-125095781	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370725113	chr8:125095783-125095784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs533873386	chr8:125095823-125095824	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs191797194	chr8:125095847-125095848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558813796	chr8:125095852-125095853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201442038	chr8:125095853-125095854	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs572470108	chr8:125095893-125095894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs367773728	chr8:125095897-125095898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540566326	chr8:125095905-125095906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560453795	chr8:125095919-125095920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529107577	chr8:125095936-125095937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201900119	chr8:125095976-125095977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58225801	chr8:125095977-125095978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142772405	chr8:125096028-125096029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542411063	chr8:125096043-125096044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
Schizophrenia	23813976	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125074800-125095400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
3	chr8:125084400-125100000	Weak transcription	Stomach Mucosa	stomach
4	chr8:125084400-125100200	Weak transcription	Gastric	stomach
5	chr8:125090800-125101200	Weak transcription	Right Ventricle	heart
6	chr8:125095400-125107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:125099600-125099800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:125099800-125101000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125100000-125100400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:125100000-125100600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:125100000-125100600	Strong transcription	Stomach Mucosa	stomach
12	chr8:125100200-125100800	Strong transcription	Gastric	stomach
13	chr8:125100200-125101600	Enhancers	Fetal Muscle Trunk	muscle
14	chr8:125100200-125102000	Enhancers	Fetal Muscle Leg	muscle
15	chr8:125100200-125102000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:125100400-125101400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:125100600-125101000	Weak transcription	Stomach Mucosa	stomach
18	chr8:125100600-125101600	Enhancers	Psoas Muscle	Psoas
19	chr8:125100600-125101800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:125100800-125124600	Weak transcription	Gastric	stomach
21	chr8:125101000-125101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:125101000-125101600	Strong transcription	Stomach Mucosa	stomach
23	chr8:125101200-125101400	Enhancers	Right Ventricle	heart
24	chr8:125101400-125101600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:125101400-125101600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:125101400-125101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:125101400-125101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:125101400-125102800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:125101600-125102200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:125101600-125102400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:125101600-125102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:125101600-125103000	Weak transcription	Psoas Muscle	Psoas
33	chr8:125101600-125107400	Weak transcription	Stomach Mucosa	stomach
34	chr8:125101800-125102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:125102000-125102400	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:125102000-125102400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:125102200-125103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:125102200-125103000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:125102200-125103000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:125102200-125103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:125102400-125102600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:125102400-125102800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:125102400-125103000	Enhancers	Fetal Muscle Leg	muscle
44	chr8:125102600-125103000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:125102600-125103000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:125102600-125103000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:125102800-125103200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:125103000-125103800	Enhancers	Psoas Muscle	Psoas

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