Variant report

Variant	nsv159955
Chromosome Location	chr1:46813543-46820327
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46818884..46820959-chr1:46821785..46824508,3	K562	blood:
2	chr1:46798881..46799993-chr1:46813488..46814394,6	K562	blood:
3	chr1:46798939..46799467-chr1:46813581..46814481,2	MCF-7	breast:
4	chr1:46818189..46820117-chr1:46885005..46887548,2	K562	blood:
5	chr1:46811114..46815491-chr1:46820924..46824647,4	K562	blood:
6	chr1:46817441..46819308-chr1:46827511..46830077,2	K562	blood:
7	chr1:46815399..46818374-chr1:46824633..46827499,2	K562	blood:
8	chr1:46814726..46816350-chr1:46818043..46820192,2	K562	blood:
9	chr1:46646028..46646908-chr1:46813526..46814026,2	K562	blood:
10	chr1:46813919..46815528-chr1:46820664..46823527,3	K562	blood:
11	chr1:46768570..46769429-chr1:46813403..46814072,2	K562	blood:
12	chr1:46813651..46815431-chr1:46818559..46820189,2	K562	blood:
13	chr1:46814726..46816350-chr1:46818043..46820192,2	K562	blood:
14	chr1:46804821..46808263-chr1:46810401..46814880,8	MCF-7	breast:
15	chr1:46813651..46815431-chr1:46818559..46820189,2	K562	blood:
16	chr1:46819041..46821136-chr1:46821260..46823285,2	K562	blood:
17	chr1:46769797..46770393-chr1:46813486..46814439,2	K562	blood:
18	chr1:46763061..46775205-chr1:46803159..46817121,53	K562	blood:
19	chr1:46767434..46768285-chr1:46813200..46814407,4	MCF-7	breast:
20	chr1:46814398..46816106-chr1:46832657..46834192,2	K562	blood:
21	chr1:46712492..46714767-chr1:46818208..46820471,2	K562	blood:
22	chr1:46817441..46820016-chr1:46826490..46829011,2	K562	blood:
23	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173660	chromatin interactions
ENSG00000117481	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000132128	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59180932	chr1:46813543-46813544	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
2	rs60663927	chr1:46813546-46813547	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542630773	chr1:46813551-46813552	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560995771	chr1:46813566-46813567	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs79490411	chr1:46813568-46813569	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
6	rs546687232	chr1:46813570-46813571	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs61570836	chr1:46813588-46813589	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs7556425	chr1:46813589-46813590	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs550689895	chr1:46813618-46813619	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs61358317	chr1:46813619-46813620	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs7544951	chr1:46813635-46813636	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs60123014	chr1:46813663-46813664	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs193220856	chr1:46813695-46813696	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs185635559	chr1:46813743-46813744	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35447277	chr1:46813754-46813755	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs189430029	chr1:46813760-46813761	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs558580792	chr1:46813788-46813789	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs57965870	chr1:46813794-46813795	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs58585916	chr1:46813795-46813796	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs180781589	chr1:46813815-46813816	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs544783686	chr1:46813828-46813829	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185229691	chr1:46813841-46813842	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556620413	chr1:46813847-46813848	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs72677586	chr1:46813848-46813849	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72886903	chr1:46813860-46813861	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs369170421	chr1:46813881-46813882	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs68112720	chr1:46813888-46813889	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs540373699	chr1:46813950-46813951	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs17361805	chr1:46813967-46813968	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs188522619	chr1:46813971-46813972	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs72677587	chr1:46813982-46813983	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs375393427	chr1:46813993-46813994	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs17361812	chr1:46814008-46814009	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs529952035	chr1:46814009-46814010	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548040300	chr1:46814014-46814015	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566531203	chr1:46814020-46814021	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181280734	chr1:46814024-46814025	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111353779	chr1:46814029-46814030	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs66575205	chr1:46814092-46814093	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs553235430	chr1:46814107-46814108	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538085174	chr1:46814112-46814113	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs71638006	chr1:46814165-46814166	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs556740182	chr1:46814175-46814176	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs72886905	chr1:46814231-46814232	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs536168149	chr1:46814242-46814243	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs72886907	chr1:46814265-46814266	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs111226885	chr1:46814273-46814274	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
48	rs575602720	chr1:46814295-46814296	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs372230945	chr1:46814296-46814297	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs544617434	chr1:46814312-46814313	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Prostate cancer	18632612	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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
2	chr1:46807200-46818400	Weak transcription	Small Intestine	intestine
3	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:46807400-46815200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:46807400-46820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
8	chr1:46807600-46815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:46807600-46815200	Weak transcription	Psoas Muscle	Psoas
10	chr1:46807600-46835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:46807600-46844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:46807800-46813800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:46807800-46815400	Weak transcription	Stomach Mucosa	stomach
14	chr1:46807800-46816000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:46807800-46816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:46807800-46823200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:46807800-46824600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:46807800-46835000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:46808000-46814400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:46808000-46814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:46808200-46816800	Strong transcription	NHEK	skin
22	chr1:46808200-46821600	Weak transcription	Right Atrium	heart
23	chr1:46808400-46813600	Strong transcription	Adipose Nuclei	Adipose
24	chr1:46808400-46816800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:46808400-46816800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:46808400-46817000	Strong transcription	Lung	lung
27	chr1:46808600-46813600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:46808600-46822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:46808600-46831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:46808600-46834600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:46808800-46814000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:46808800-46814400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:46808800-46814400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:46808800-46816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:46808800-46817000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:46808800-46823400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:46808800-46825200	Strong transcription	Placenta	Placenta
38	chr1:46809000-46813600	Strong transcription	Liver	Liver
39	chr1:46809000-46816800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:46809000-46817200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:46809200-46814200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:46809200-46817000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:46809200-46831600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:46809200-46848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:46809400-46813800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:46809400-46816600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:46809400-46816800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:46809400-46823800	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:46809600-46813600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:46809600-46816600	Strong transcription	Osteobl	bone

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