Variant report

Variant	nsv465601
Chromosome Location	chr8:19434021-19456473
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:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19436000..19438471-chr8:19438486..19440829,2	K562	blood:
2	chr8:19436000..19438471-chr8:19438486..19440829,2	K562	blood:
3	chr8:19454050..19455974-chr8:19457211..19459572,2	K562	blood:
4	chr21:30444672..30446853-chr8:19437121..19438621,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD3-3	chr8:19448671-19448789	NONHSAT125380
2	lnc-PSD3-3	chr8:19445440-19445534	NONHSAT125380
3	lnc-PSD3-3	chr8:19442797-19442831	NONHSAT125380
4	lnc-PSD3-3	chr8:19442677-19442828	NONHSAT125379
5	lnc-PSD3-3	chr8:19445385-19445534	NONHSAT125381

No data

Variant related genes	Relation type
ENSG00000147408	chromatin interactions
ENSG00000156261	chromatin interactions

Extended variants
information (count: 1222 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13248137	chr8:19434021-19434022	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546736049	chr8:19434022-19434023	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568801547	chr8:19434047-19434048	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535186488	chr8:19434086-19434087	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555480938	chr8:19434097-19434098	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575309124	chr8:19434100-19434101	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544182053	chr8:19434101-19434102	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557801979	chr8:19434156-19434157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184176148	chr8:19434166-19434167	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146841781	chr8:19434181-19434182	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28713671	chr8:19434184-19434185	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148615141	chr8:19434186-19434187	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369699723	chr8:19434187-19434188	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559675259	chr8:19434196-19434197	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528721996	chr8:19434268-19434269	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371712987	chr8:19434318-19434319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369477603	chr8:19434387-19434388	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2975460	chr8:19434404-19434405	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142039751	chr8:19434431-19434432	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147798584	chr8:19434433-19434434	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2975461	chr8:19434448-19434449	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375137571	chr8:19434455-19434456	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530919091	chr8:19434462-19434463	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550528589	chr8:19434463-19434464	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570536940	chr8:19434472-19434473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533036993	chr8:19434473-19434474	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562580707	chr8:19434494-19434495	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371251039	chr8:19434519-19434520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546909931	chr8:19434521-19434522	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529625625	chr8:19434526-19434527	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141225654	chr8:19434538-19434539	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79494391	chr8:19434554-19434555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2975462	chr8:19434580-19434581	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34472075	chr8:19434587-19434588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397892658	chr8:19434590-19434591	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555276383	chr8:19434596-19434597	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566420839	chr8:19434598-19434599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568932219	chr8:19434612-19434613	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574619882	chr8:19434614-19434615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537960019	chr8:19434616-19434617	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28449479	chr8:19434656-19434657	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557764991	chr8:19434663-19434664	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577747551	chr8:19434669-19434670	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78733929	chr8:19434689-19434690	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386723244	chr8:19434696-19434697	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12334858	chr8:19434698-19434699	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147098439	chr8:19434704-19434705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561963457	chr8:19434726-19434727	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183982394	chr8:19434734-19434735	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544329892	chr8:19434735-19434736	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
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
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
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19409000-19437400	Weak transcription	Gastric	stomach
3	chr8:19419600-19435600	Weak transcription	Pancreas	Pancrea
4	chr8:19422200-19435600	Weak transcription	Right Atrium	heart
5	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:19424600-19435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19427800-19436200	Weak transcription	Spleen	Spleen
8	chr8:19428400-19436000	Weak transcription	Right Ventricle	heart
9	chr8:19429800-19437000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:19430800-19438400	Weak transcription	Brain Anterior Caudate	brain
11	chr8:19431400-19436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:19432000-19437400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:19432200-19436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:19432400-19436200	Weak transcription	Lung	lung
15	chr8:19432600-19434600	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:19432800-19434400	Enhancers	Primary B cells from cord blood	blood
17	chr8:19432800-19435000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:19433200-19434200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:19433200-19435200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:19433200-19435200	Genic enhancers	A549	lung
21	chr8:19433400-19434400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:19433400-19434400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:19433400-19434600	Enhancers	Primary T cells from cord blood	blood
24	chr8:19433400-19434600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:19433400-19434600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:19433400-19434600	Enhancers	Left Ventricle	heart
27	chr8:19433400-19434800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:19433600-19434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:19433600-19435000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:19433600-19435400	Weak transcription	Ovary	ovary
31	chr8:19433800-19435400	Weak transcription	Thymus	Thymus
32	chr8:19433800-19435800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:19433800-19436200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:19433800-19436400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:19434000-19434200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:19434000-19435600	Enhancers	Hela-S3	cervix
37	chr8:19434000-19437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:19434200-19437800	Enhancers	Placenta	Placenta
40	chr8:19434400-19434800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:19434400-19435800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:19434400-19436400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:19434400-19442400	Weak transcription	Primary B cells from cord blood	blood
44	chr8:19434600-19435000	Weak transcription	Left Ventricle	heart
45	chr8:19434600-19435400	Genic enhancers	Primary T cells from cord blood	blood
46	chr8:19434600-19436200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:19434600-19450800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:19434600-19451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:19434800-19435200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:19434800-19435200	Weak transcription	Placenta Amnion	Placenta Amnion

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