Variant report

Variant	nsv610751
Chromosome Location	chr8:19226335-19284889
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:80)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:19277038..19281251-chr8:19291957..19296139,6	MCF-7	breast:
2	chr8:19271639..19274356-chr8:19296369..19298218,2	MCF-7	breast:
3	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
4	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:
5	chr8:18769395..18770122-chr8:19233362..19234198,2	K562	blood:
6	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
7	chr8:19253781..19256725-chr8:19257915..19261279,3	K562	blood:
8	chr8:19266166..19268628-chr8:19272265..19273861,2	MCF-7	breast:
9	chr8:19277635..19279188-chr8:19612998..19615550,2	MCF-7	breast:
10	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:
11	chr8:19243547..19245483-chr8:19247130..19249437,2	MCF-7	breast:
12	chr8:19246942..19249013-chr8:19251445..19254016,2	K562	blood:
13	chr8:19277716..19280530-chr8:19280967..19283858,2	MCF-7	breast:
14	chr8:19257916..19263077-chr8:19263478..19266650,4	MCF-7	breast:
15	chr8:19260819..19264347-chr8:19264477..19266949,3	MCF-7	breast:
16	chr8:19228689..19230265-chr8:19235618..19238234,2	K562	blood:
17	chr8:19275354..19278233-chr8:19280534..19283813,3	MCF-7	breast:
18	chr8:19250624..19252253-chr8:19278071..19280597,2	MCF-7	breast:
19	chr8:19225560..19227761-chr8:19271454..19274357,2	K562	blood:
20	chr8:19279133..19281862-chr8:19291415..19293117,2	MCF-7	breast:
21	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
22	chr8:19277703..19280587-chr8:19673604..19675691,2	MCF-7	breast:
23	chr8:19283299..19285964-chr8:19292652..19294945,2	MCF-7	breast:
24	chr8:19265621..19266481-chr8:19615795..19616681,3	MCF-7	breast:
25	chr8:19225560..19227761-chr8:19271454..19274357,2	K562	blood:
26	chr8:19264741..19268726-chr8:19614195..19616222,3	MCF-7	breast:
27	chr8:19280974..19282712-chr8:19296114..19297888,2	MCF-7	breast:
28	chr8:19260819..19264347-chr8:19264477..19266949,3	MCF-7	breast:
29	chr8:19275542..19277855-chr8:19280462..19282722,2	K562	blood:
30	chr8:19242205..19244006-chr8:19278018..19280967,2	MCF-7	breast:
31	chr8:19244439..19246344-chr8:19276946..19278452,2	MCF-7	breast:
32	chr8:19266168..19267872-chr8:19269454..19271041,2	MCF-7	breast:
33	chr8:19275354..19278233-chr8:19280534..19283813,3	MCF-7	breast:
34	chr8:19275542..19277855-chr8:19280462..19282722,2	K562	blood:
35	chr8:19229040..19231185-chr8:19244453..19248477,4	MCF-7	breast:
36	chr8:19246919..19248949-chr8:19621719..19623568,2	MCF-7	breast:
37	chr8:19266168..19267872-chr8:19269454..19271041,2	MCF-7	breast:
38	chr8:19253781..19256725-chr8:19257915..19261279,3	K562	blood:
39	chr8:19272075..19274991-chr8:19275738..19277539,3	MCF-7	breast:
40	chr8:19257258..19260124-chr8:19260935..19262569,2	MCF-7	breast:
41	chr8:19228689..19230265-chr8:19235618..19238234,2	K562	blood:
42	chr8:19242205..19244006-chr8:19278018..19280967,2	MCF-7	breast:
43	chr8:19265111..19268034-chr8:19269778..19273718,6	MCF-7	breast:
44	chr8:19272075..19274991-chr8:19275738..19277539,3	MCF-7	breast:
45	chr8:19265933..19266573-chr8:19614965..19615512,3	MCF-7	breast:
46	chr8:19229040..19231185-chr8:19244453..19248477,4	MCF-7	breast:
47	chr8:19243844..19246567-chr8:19293989..19296089,2	MCF-7	breast:
48	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
49	chr8:19278872..19281688-chr8:19614023..19616440,2	MCF-7	breast:
50	chr8:19265702..19266673-chr8:19612302..19612805,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CSGALNACT1	hsa-miR-335-5p	chr8:19262970-19262994

Variant related genes	Relation type
ENSG00000147408	chromatin interactions
ENSG00000104613	chromatin interactions

Extended variants
information (count: 3044 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:3044 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12155715	chr8:19226335-19226336	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373940632	chr8:19226337-19226338	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10108589	chr8:19226355-19226356	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183979676	chr8:19226385-19226386	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188710770	chr8:19226417-19226418	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181566527	chr8:19226420-19226421	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142671694	chr8:19226431-19226432	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370381469	chr8:19226443-19226444	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147381027	chr8:19226485-19226486	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs55993746	chr8:19226490-19226491	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139521948	chr8:19226493-19226494	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375878529	chr8:19226532-19226533	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76626800	chr8:19226574-19226575	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557157931	chr8:19226607-19226608	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150040912	chr8:19226652-19226653	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186745371	chr8:19226675-19226676	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112486328	chr8:19226710-19226711	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528103723	chr8:19226717-19226718	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190338715	chr8:19226727-19226728	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144351252	chr8:19226737-19226738	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530450240	chr8:19226804-19226805	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182024883	chr8:19226841-19226842	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74761668	chr8:19226870-19226871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532451384	chr8:19226894-19226895	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552646613	chr8:19226901-19226902	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs386723227	chr8:19226902-19226903	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76561579	chr8:19226904-19226905	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77274871	chr8:19226987-19226988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546081770	chr8:19226994-19226995	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186316423	chr8:19226996-19226997	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576797153	chr8:19227015-19227016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568000880	chr8:19227099-19227100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189539856	chr8:19227172-19227173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543939526	chr8:19227248-19227249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557627019	chr8:19227256-19227257	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556853345	chr8:19227278-19227279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146567250	chr8:19227378-19227379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371205764	chr8:19227380-19227381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576971200	chr8:19227401-19227402	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs118034313	chr8:19227417-19227418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553095750	chr8:19227422-19227423	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374150917	chr8:19227426-19227427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113548264	chr8:19227482-19227483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182240960	chr8:19227492-19227493	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185242078	chr8:19227508-19227509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544098476	chr8:19227533-19227534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543259024	chr8:19227540-19227541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574890518	chr8:19227549-19227550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559045789	chr8:19227560-19227561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563688143	chr8:19227571-19227572	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19186200-19229800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:19195600-19231200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:19208400-19231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
6	chr8:19215400-19245800	Weak transcription	Left Ventricle	heart
7	chr8:19215400-19247800	Weak transcription	Fetal Kidney	kidney
8	chr8:19216600-19243800	Weak transcription	Pancreas	Pancrea
9	chr8:19217400-19230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:19221400-19226400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19221400-19226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:19221600-19243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:19221800-19231000	Weak transcription	Lung	lung
14	chr8:19221800-19231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:19221800-19231200	Weak transcription	Placenta	Placenta
16	chr8:19221800-19242600	Weak transcription	HMEC	breast
17	chr8:19221800-19242600	Weak transcription	NHEK	skin
18	chr8:19222000-19229600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:19222000-19231000	Weak transcription	NHLF	lung
20	chr8:19222000-19231600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:19222000-19233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:19222000-19243000	Weak transcription	Stomach Mucosa	stomach
23	chr8:19222400-19231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:19222400-19233400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:19222600-19228800	Weak transcription	HepG2	liver
26	chr8:19223200-19231200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:19223400-19226400	Strong transcription	NHDF-Ad	bronchial
28	chr8:19223400-19233400	Weak transcription	Gastric	stomach
29	chr8:19223600-19229600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:19224000-19229600	Weak transcription	Fetal Stomach	stomach
31	chr8:19224000-19229800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:19224200-19228000	Weak transcription	Osteobl	bone
33	chr8:19224200-19229600	Weak transcription	Ovary	ovary
34	chr8:19224200-19231000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:19224400-19229800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:19224400-19229800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:19224400-19231000	Weak transcription	Esophagus	oesophagus
38	chr8:19224600-19229600	ZNF genes & repeats	A549	lung
39	chr8:19224800-19231200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:19225600-19228400	Weak transcription	Hela-S3	cervix
41	chr8:19225800-19226800	ZNF genes & repeats	Fetal Lung	lung
42	chr8:19225800-19227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:19225800-19229600	Weak transcription	Liver	Liver
44	chr8:19226400-19227000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:19226400-19227000	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr8:19226800-19227200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:19227000-19228000	Weak transcription	NHDF-Ad	bronchial
48	chr8:19227000-19231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:19227200-19227400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:19227200-19239800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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