Variant report

Variant	nsv441692
Chromosome Location	chr1:47713661-47729088
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47658315..47659140-chr1:47728181..47729215,5	MCF-7	breast:
2	chr1:47727088..47730894-chr1:47732029..47735166,5	K562	blood:
3	chr1:47717233..47719376-chr1:47724988..47726635,2	K562	blood:
4	chr1:47712928..47715830-chr1:47727975..47729744,2	K562	blood:
5	chr1:47644525..47645379-chr1:47728226..47729169,2	MCF-7	breast:
6	chr1:47721307..47724015-chr1:47778239..47780843,2	K562	blood:
7	chr1:47698065..47701029-chr1:47721450..47723086,2	K562	blood:
8	chr1:47712928..47715830-chr1:47727975..47729744,2	K562	blood:
9	chr1:47642334..47646964-chr1:47725886..47730593,7	K562	blood:
10	chr1:47693951..47697518-chr1:47723725..47731232,8	K562	blood:
11	chr1:47723649..47725746-chr1:47738217..47740695,2	K562	blood:
12	chr1:47656407..47658667-chr1:47728325..47730226,2	K562	blood:
13	chr1:47644890..47645487-chr1:47728224..47729085,3	MCF-7	breast:
14	chr1:47644762..47646889-chr1:47723757..47725718,2	K562	blood:
15	chr1:47705490..47714722-chr1:47717231..47723503,17	K562	blood:
16	chr1:47658032..47658753-chr1:47728341..47729010,2	MCF-7	breast:
17	chr1:47721422..47723320-chr1:47729303..47730814,2	K562	blood:
18	chr1:47658286..47659515-chr1:47727734..47729196,7	K562	blood:
19	chr1:47723807..47725523-chr1:47727010..47730134,4	K562	blood:
20	chr1:47721422..47724402-chr1:47728933..47730814,3	K562	blood:
21	chr1:47679659..47682263-chr1:47720336..47722266,2	K562	blood:
22	chr1:47723807..47725523-chr1:47727010..47730134,4	K562	blood:
23	chr1:47726105..47728644-chr1:47745064..47747632,2	K562	blood:
24	chr1:47717233..47719376-chr1:47724988..47726635,2	K562	blood:
25	chr1:47721422..47724402-chr1:47728933..47730814,3	K562	blood:
26	chr1:47709950..47711562-chr1:47715114..47717131,2	K562	blood:
27	chr1:47705490..47714722-chr1:47717231..47723503,17	K562	blood:
28	chr1:47728110..47730065-chr1:47732683..47735078,2	K562	blood:
29	chr1:47644533..47645889-chr1:47727753..47729391,13	K562	blood:
30	chr1:47728733..47731424-chr1:47736676..47738245,2	K562	blood:
31	chr1:47662073..47663006-chr1:47728655..47729324,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162367	chromatin interactions
ENSG00000123473	chromatin interactions
ENSG00000162366	chromatin interactions
ENSG00000224805	chromatin interactions
ENSG00000225506	chromatin interactions

Extended variants
information (count: 591 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549305595	chr1:47713661-47713662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376690182	chr1:47713683-47713684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547809289	chr1:47713699-47713700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553096041	chr1:47713708-47713709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2475761	chr1:47713718-47713719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35082051	chr1:47713776-47713777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188877336	chr1:47713780-47713781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557118710	chr1:47713786-47713787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549003321	chr1:47713796-47713797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146195377	chr1:47713797-47713798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554866590	chr1:47713823-47713824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573165869	chr1:47713845-47713846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543186875	chr1:47713892-47713893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540504771	chr1:47713907-47713908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373902649	chr1:47713912-47713913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565454163	chr1:47713913-47713914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35277171	chr1:47713950-47713951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398049254	chr1:47713952-47713953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397813242	chr1:47713970-47713971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7555179	chr1:47713997-47713998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545076137	chr1:47714052-47714053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13376242	chr1:47714089-47714090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530520258	chr1:47714136-47714137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191365135	chr1:47714176-47714177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548970091	chr1:47714226-47714227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571051653	chr1:47714240-47714241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528369684	chr1:47714243-47714244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7523765	chr1:47714257-47714258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546528011	chr1:47714260-47714261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571412783	chr1:47714281-47714282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376738672	chr1:47714285-47714286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78107262	chr1:47714331-47714332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557431990	chr1:47714375-47714376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139078904	chr1:47714379-47714380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536262784	chr1:47714390-47714391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183664471	chr1:47714412-47714413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186874028	chr1:47714423-47714424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74572301	chr1:47714459-47714460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558925050	chr1:47714508-47714509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199750501	chr1:47714550-47714551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577376997	chr1:47714552-47714553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377512013	chr1:47714554-47714555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544431050	chr1:47714557-47714558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563392750	chr1:47714599-47714600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74074048	chr1:47714716-47714717	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74923007	chr1:47714741-47714742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58544837	chr1:47714755-47714756	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150528605	chr1:47714761-47714762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369645279	chr1:47714769-47714770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564988517	chr1:47714825-47714826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47705200-47766400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47705600-47766400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:47705800-47714800	Weak transcription	Fetal Thymus	thymus
4	chr1:47707600-47716600	Weak transcription	Hela-S3	cervix
5	chr1:47707600-47722800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:47708000-47715200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:47709800-47714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:47709800-47716000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:47709800-47725400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:47709800-47726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:47709800-47745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:47710000-47716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:47710000-47716600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:47710000-47716600	Weak transcription	HUVEC	blood vessel
15	chr1:47710400-47716600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:47711000-47715200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:47711000-47727800	Weak transcription	A549	lung
18	chr1:47711200-47715600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:47711200-47716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:47711400-47716200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:47711800-47715200	Weak transcription	Thymus	Thymus
22	chr1:47711800-47716600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:47712200-47718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:47712400-47714800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:47712400-47716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:47712400-47720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:47712600-47716600	Weak transcription	Dnd41	blood
28	chr1:47712600-47724200	Weak transcription	Fetal Intestine Large	intestine
29	chr1:47712600-47735000	Weak transcription	NHDF-Ad	bronchial
30	chr1:47712600-47742600	Weak transcription	Fetal Lung	lung
31	chr1:47712800-47729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:47712800-47745600	Weak transcription	Fetal Brain Female	brain
33	chr1:47713000-47715200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:47713000-47715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:47713000-47736400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:47713200-47716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:47713200-47716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:47713200-47717000	Weak transcription	HepG2	liver
39	chr1:47713200-47745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:47713400-47713800	Enhancers	K562	blood
41	chr1:47713400-47716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:47713400-47716600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:47713400-47716600	Weak transcription	HMEC	breast
44	chr1:47713400-47716600	Weak transcription	HSMM	muscle
45	chr1:47713400-47716600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:47713600-47715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:47713600-47716400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:47713600-47716800	Weak transcription	NH-A	brain
49	chr1:47713600-47718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:47713600-47725400	Weak transcription	Osteobl	bone

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