Variant report

Variant	nsv830462
Chromosome Location	chr5:119124989-119262889
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:7991136..7992090-chr5:119132393..119133207,2	MCF-7	breast:
2	chr5:119164632..119167610-chr5:119169967..119171530,2	K562	blood:
3	chr18:65208157..65208941-chr5:119229771..119230382,2	MCF-7	breast:
4	chr5:119126307..119128529-chr5:119131393..119133622,2	K562	blood:
5	chr5:119126307..119128529-chr5:119131393..119133622,2	K562	blood:
6	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:
7	chr5:119164632..119167610-chr5:119169967..119171530,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119198854-119198913	l_3004_chr5:119198853-119375297_testes

No data

Extended variants
information (count: 2167 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2167 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114448312	chr5:119125008-119125009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190092368	chr5:119125030-119125031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369371581	chr5:119125040-119125041	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570637734	chr5:119125067-119125068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191964801	chr5:119125071-119125072	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116552876	chr5:119125098-119125099	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534221541	chr5:119125117-119125118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553832373	chr5:119125154-119125155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2973939	chr5:119125158-119125159	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568100715	chr5:119125183-119125184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542742816	chr5:119125211-119125212	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562386845	chr5:119125302-119125303	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76950656	chr5:119125312-119125313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544936795	chr5:119125315-119125316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564849744	chr5:119125330-119125331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527561705	chr5:119125359-119125360	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547379689	chr5:119125375-119125376	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138157871	chr5:119125381-119125382	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529843689	chr5:119125422-119125423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549881710	chr5:119125451-119125452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569509823	chr5:119125457-119125458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538459239	chr5:119125466-119125467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532554647	chr5:119125475-119125476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184039326	chr5:119125489-119125490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188383614	chr5:119125576-119125577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534183648	chr5:119125618-119125619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535243801	chr5:119125653-119125654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149452271	chr5:119125681-119125682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371521746	chr5:119125682-119125683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180850358	chr5:119125688-119125689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536375053	chr5:119125765-119125766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143012435	chr5:119125776-119125777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576092342	chr5:119125788-119125789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544824966	chr5:119125794-119125795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116807054	chr5:119125807-119125808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559225568	chr5:119125824-119125825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77485283	chr5:119125830-119125831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185257063	chr5:119125833-119125834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148197523	chr5:119125859-119125860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141181273	chr5:119125884-119125885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543411954	chr5:119125885-119125886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563396702	chr5:119125887-119125888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532200754	chr5:119125914-119125915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115059338	chr5:119125948-119125949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189420766	chr5:119125961-119125962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147379420	chr5:119125967-119125968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547749363	chr5:119125972-119125973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35255328	chr5:119125997-119125998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80256506	chr5:119126005-119126006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182257868	chr5:119126055-119126056	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119122400-119126000	Enhancers	Fetal Lung	lung
2	chr5:119124800-119125400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:119124800-119125400	Flanking Active TSS	Dnd41	blood
4	chr5:119124800-119126000	Enhancers	HSMM	muscle
5	chr5:119124800-119126000	Enhancers	HSMMtube	muscle
6	chr5:119124800-119126200	Enhancers	Fetal Heart	heart
7	chr5:119125000-119125200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:119125000-119125400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:119125200-119128800	Enhancers	Fetal Intestine Small	intestine
10	chr5:119125400-119126000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:119125400-119126400	Enhancers	Dnd41	blood
12	chr5:119126400-119127400	Weak transcription	Dnd41	blood
13	chr5:119126600-119126800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:119126800-119127200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:119127200-119127600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr5:119127400-119128000	Enhancers	Dnd41	blood
17	chr5:119127600-119128600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr5:119127600-119128800	Enhancers	Fetal Intestine Large	intestine
19	chr5:119127600-119128800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:119127800-119128600	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:119128000-119131000	Weak transcription	Dnd41	blood
22	chr5:119128600-119128800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:119131000-119132200	Enhancers	Dnd41	blood
24	chr5:119133600-119133800	Enhancers	Psoas Muscle	Psoas
25	chr5:119135600-119136400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:119136400-119137200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:119142000-119148600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:119144200-119145800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:119145200-119146000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:119145400-119146000	Enhancers	Gastric	stomach
31	chr5:119145400-119146800	Enhancers	Right Ventricle	heart
32	chr5:119145600-119145800	Enhancers	Psoas Muscle	Psoas
33	chr5:119145800-119146200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:119145800-119146600	Enhancers	Aorta	Aorta
35	chr5:119145800-119146800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:119145800-119148400	Weak transcription	Psoas Muscle	Psoas
37	chr5:119146600-119147200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:119146600-119147400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:119146600-119147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:119146600-119148200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:119146800-119148000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:119147000-119147200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:119147000-119147800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:119147000-119148000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:119147000-119148000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:119148200-119150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:119150400-119150800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:119150400-119150800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:119150600-119150800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:119152600-119153200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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