Variant report

Variant	nsv872081
Chromosome Location	chr1:105009637-105455991
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:
2	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:
3	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
4	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:
5	chr1:105190498..105191127-chr1:106335842..106336840,2	MCF-7	breast:
6	chr1:105322921..105323781-chr1:106335621..106336447,4	MCF-7	breast:
7	chr1:105021052..105022674-chr1:105034468..105036725,2	K562	blood:
8	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:
9	chr1:105396022..105396528-chr2:15494186..15495100,2	MCF-7	breast:
10	chr1:105322701..105323694-chr1:106151023..106151974,2	MCF-7	breast:
11	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
12	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
13	chr1:105021052..105022674-chr1:105034468..105036725,2	K562	blood:
14	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
15	chr1:105323182..105323702-chr1:106336107..106336743,2	K562	blood:
16	chr1:105322783..105323719-chr1:106810790..106811327,2	MCF-7	breast:

No data

Extended variants
information (count: 3084 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3084 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12022902	chr1:105009637-105009638	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567089209	chr1:105009640-105009641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534530096	chr1:105009641-105009642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546530152	chr1:105009666-105009667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377312565	chr1:105009667-105009668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9725281	chr1:105009668-105009669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558131020	chr1:105009673-105009674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12022905	chr1:105009674-105009675	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12022906	chr1:105009684-105009685	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374172001	chr1:105009711-105009712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574258754	chr1:105009712-105009713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs61788796	chr1:105009741-105009742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559734932	chr1:105009800-105009801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533107349	chr1:105009819-105009820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377680980	chr1:105009838-105009839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114780320	chr1:105009859-105009860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs72985686	chr1:105009884-105009885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371250051	chr1:105009922-105009923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542287298	chr1:105009930-105009931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560650994	chr1:105009942-105009943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374584489	chr1:105009957-105009958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546764930	chr1:105009975-105009976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571399801	chr1:105009994-105009995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2121965	chr1:105010005-105010006	Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527499543	chr1:105010026-105010027	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140177184	chr1:105010038-105010039	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570034380	chr1:105010056-105010057	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537467982	chr1:105010086-105010087	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370263369	chr1:105010144-105010145	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531142107	chr1:105010150-105010151	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567771754	chr1:105010156-105010157	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534850832	chr1:105010171-105010172	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2121966	chr1:105010245-105010246	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368065625	chr1:105010270-105010271	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545646729	chr1:105010275-105010276	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567895647	chr1:105010276-105010277	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557252787	chr1:105010326-105010327	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs3943554	chr1:105010330-105010331	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112739158	chr1:105010333-105010334	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569550128	chr1:105010334-105010335	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185362482	chr1:105010340-105010341	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528187854	chr1:105010381-105010382	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539983739	chr1:105010382-105010383	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565075203	chr1:105010399-105010400	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532224519	chr1:105010414-105010415	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs61239242	chr1:105010428-105010429	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569179004	chr1:105010466-105010467	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530889899	chr1:105010478-105010479	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190171502	chr1:105010481-105010482	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549393715	chr1:105010505-105010506	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105008400-105011200	ZNF genes & repeats	HepG2	liver
2	chr1:105010000-105010200	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:105010200-105010400	Active TSS	GM12878-XiMat	blood
4	chr1:105010200-105010600	Active TSS	Liver	Liver
5	chr1:105010400-105010600	Enhancers	GM12878-XiMat	blood
6	chr1:105010600-105010800	Flanking Active TSS	Liver	Liver
7	chr1:105010800-105011200	Enhancers	Liver	Liver
8	chr1:105018400-105019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:105030400-105030600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr1:105030600-105030800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:105030600-105031200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:105030600-105031400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr1:105030800-105031000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:105030800-105031000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr1:105030800-105031000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr1:105030800-105031000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:105030800-105031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:105030800-105031200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr1:105030800-105031200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr1:105030800-105031200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:105030800-105031200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:105030800-105031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:105030800-105032000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr1:105031000-105031200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:105031800-105032000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr1:105032000-105032200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:105032000-105032200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr1:105080200-105080600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:105081600-105082200	Enhancers	HepG2	liver
30	chr1:105081800-105082200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:105108800-105109200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:105127400-105127800	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:105127800-105134800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:105134800-105137200	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:105135200-105135400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr1:105135200-105135600	Enhancers	GM12878-XiMat	blood
37	chr1:105135200-105137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:105135600-105136600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:105136400-105137000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:105136600-105137000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:105137000-105144200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:105141400-105142000	Enhancers	Fetal Lung	lung
43	chr1:105144200-105144400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:105144400-105145200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:105145200-105145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:105145200-105145600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:105159400-105159800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:105159600-105161200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:105162800-105163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:105163200-105164600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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