Variant report

Variant	nsv1034989
Chromosome Location	chr8:36242017-36436244
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:
2	chr11:62413261..62413842-chr8:36399745..36400612,2	Hela-S3	cervix:
3	chr8:36395080..36396907-chr8:36399501..36401902,2	K562	blood:
4	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:
5	chr8:36395080..36396907-chr8:36399501..36401902,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-419C23.1.1-3	chr8:36394909-36394994	ENSG00000253363.1

No data

Extended variants
information (count: 3435 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:3435 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556485263	chr8:36243013-36243014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200945981	chr8:36243042-36243043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530292731	chr8:36243085-36243086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545254897	chr8:36243094-36243095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559897068	chr8:36243123-36243124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571980719	chr8:36243124-36243125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141278352	chr8:36243158-36243159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561022895	chr8:36243256-36243257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183861459	chr8:36243311-36243312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150792294	chr8:36243345-36243346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565220359	chr8:36243357-36243358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532448810	chr8:36243386-36243387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547640258	chr8:36243409-36243410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188488036	chr8:36243426-36243427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534179398	chr8:36243464-36243465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549237270	chr8:36243473-36243474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567418851	chr8:36243475-36243476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538089116	chr8:36243562-36243563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372671706	chr8:36251821-36251822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375802639	chr8:36251846-36251847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369224900	chr8:36251871-36251872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372510575	chr8:36251875-36251876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547235015	chr8:36251894-36251895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538162318	chr8:36251895-36251896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565529109	chr8:36251920-36251921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577593984	chr8:36251921-36251922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181682819	chr8:36251941-36251942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553627890	chr8:36251952-36251953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374339439	chr8:36251953-36251954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572117489	chr8:36251959-36251960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542698405	chr8:36251960-36251961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186065683	chr8:36251961-36251962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188725066	chr8:36251962-36251963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543776856	chr8:36251965-36251966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112629448	chr8:36251966-36251967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533220662	chr8:36251967-36251968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111917762	chr8:36251973-36251974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140314325	chr8:36251976-36251977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181107185	chr8:36251977-36251978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186174119	chr8:36251988-36251989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549030204	chr8:36252001-36252002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375996407	chr8:36252005-36252006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369221965	chr8:36252023-36252024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538027164	chr8:36252056-36252057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371328195	chr8:36252063-36252064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs556630762	chr8:36252064-36252065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571900745	chr8:36252066-36252067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538924350	chr8:36252072-36252073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553733399	chr8:36252086-36252087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142080881	chr8:36252087-36252088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	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
Seminomas	18059402	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	19651600	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36243000-36243400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:36243000-36243600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:36243000-36243600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:36243200-36243600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:36243200-36243600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:36251800-36252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:36252000-36252600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr8:36252200-36252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:36252200-36252800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:36271400-36273800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:36271600-36271800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:36271600-36272200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:36277600-36279000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:36279000-36282200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:36282200-36282800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:36282400-36282800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:36282800-36283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:36283800-36284000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:36283800-36285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:36284000-36284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:36284200-36285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:36284600-36285400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:36284800-36285200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:36285000-36287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:36285200-36296000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:36287000-36288000	Enhancers	Fetal Brain Male	brain
27	chr8:36287200-36288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:36296000-36297000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:36301400-36301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:36301800-36303200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:36303200-36308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:36305000-36306600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:36318600-36319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:36318800-36319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:36319000-36319400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:36331600-36333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:36332600-36333600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:36332800-36334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:36341600-36341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:36347600-36348200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:36347800-36348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:36348000-36348200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:36348000-36348400	Active TSS	NHEK	skin
44	chr8:36348200-36348400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:36348200-36348400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr8:36348200-36348800	Enhancers	Fetal Brain Male	brain
47	chr8:36348200-36349200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:36348200-36350000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:36348200-36353200	Enhancers	Brain Germinal Matrix	brain
50	chr8:36348400-36348600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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