Variant report

Variant	nsv535073
Chromosome Location	chr1:118886864-119037964
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
2	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:
3	chr1:119029137..119029961-chr4:130198941..130199727,2	MCF-7	breast:
4	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
5	chr1:118889916..118891629-chr1:118901014..118902538,2	MCF-7	breast:
6	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:
7	chr1:118878883..118880956-chr1:118884569..118887363,2	K562	blood:
8	chr1:119023448..119025739-chr1:119456881..119458655,2	MCF-7	breast:
9	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:
10	chr1:119024221..119026264-chr1:119682638..119684716,2	MCF-7	breast:
11	chr1:118881027..118883624-chr1:118885807..118888775,2	K562	blood:
12	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
13	chr1:118889916..118891629-chr1:118901014..118902538,2	MCF-7	breast:
14	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
15	chr1:118989107..118990022-chr20:53475138..53475899,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231365	chromatin interactions
ENSG00000116874	chromatin interactions

Extended variants
information (count: 1921 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1921 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149457282	chr1:118886929-118886930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532687037	chr1:118886946-118886947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183768701	chr1:118886951-118886952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375022790	chr1:118886986-118886987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535294523	chr1:118887026-118887027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368463910	chr1:118887030-118887031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137910771	chr1:118887047-118887048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575466614	chr1:118887059-118887060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543385071	chr1:118887092-118887093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558562643	chr1:118887127-118887128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558565129	chr1:118887156-118887157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188050705	chr1:118887168-118887169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35512007	chr1:118887246-118887247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541173576	chr1:118887288-118887289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559593378	chr1:118887290-118887291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138745581	chr1:118887296-118887297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141767601	chr1:118887309-118887310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563977430	chr1:118887352-118887353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76926268	chr1:118887367-118887368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530068372	chr1:118887369-118887370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17460214	chr1:118887437-118887438	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs570505911	chr1:118887488-118887489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372368946	chr1:118887519-118887520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578185146	chr1:118887571-118887572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546628769	chr1:118887601-118887602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567127045	chr1:118887631-118887632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34895388	chr1:118887632-118887633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386368203	chr1:118887635-118887636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375521537	chr1:118887640-118887641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568072914	chr1:118887767-118887768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533446606	chr1:118887784-118887785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543165974	chr1:118887785-118887786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146232075	chr1:118887791-118887792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113554348	chr1:118887821-118887822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556900381	chr1:118887829-118887830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192546086	chr1:118887921-118887922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77667154	chr1:118887938-118887939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534205845	chr1:118887941-118887942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558525425	chr1:118888010-118888011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375553608	chr1:118888028-118888029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576779415	chr1:118888041-118888042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12082584	chr1:118888083-118888084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540872119	chr1:118888111-118888112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552771683	chr1:118888138-118888139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184727905	chr1:118888176-118888177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139628667	chr1:118888210-118888211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542385871	chr1:118888246-118888247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562238008	chr1:118888275-118888276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574314775	chr1:118888309-118888310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544383342	chr1:118888322-118888323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:118870400-118889400	Weak transcription	Pancreas	Pancrea
2	chr1:118889200-118890200	Enhancers	Fetal Intestine Large	intestine
3	chr1:118889400-118889800	Enhancers	Pancreas	Pancrea
4	chr1:118889400-118890200	Enhancers	Fetal Intestine Small	intestine
5	chr1:118903000-118903200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:118903000-118903400	Enhancers	Hela-S3	cervix
7	chr1:118903000-118903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:118903000-118904000	Enhancers	NHEK	skin
9	chr1:118903400-118903600	Weak transcription	Hela-S3	cervix
10	chr1:118903600-118904000	Enhancers	Hela-S3	cervix
11	chr1:118903800-118904000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:118903800-118909600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:118904000-118909200	Weak transcription	Hela-S3	cervix
14	chr1:118906600-118908400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:118909000-118909800	Enhancers	HMEC	breast
16	chr1:118909200-118909600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:118909200-118909800	Enhancers	Hela-S3	cervix
18	chr1:118909400-118909600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:118909400-118910000	Enhancers	Osteobl	bone
20	chr1:118909600-118909800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:118909600-118910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:118923600-118924600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:118923800-118924200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:118924000-118924400	Enhancers	HMEC	breast
25	chr1:118928600-118929000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:118930400-118930600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:118930600-118930800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:118930600-118931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:118930800-118931600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:118931000-118931400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:118931000-118931600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:118931000-118931600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:118931200-118932000	Enhancers	Psoas Muscle	Psoas
34	chr1:118931400-118931600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:118932000-118938400	Weak transcription	Psoas Muscle	Psoas
36	chr1:118938000-118939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:118938000-118940200	Enhancers	Adipose Nuclei	Adipose
38	chr1:118938200-118939000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:118938200-118939400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:118938200-118939400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:118938400-118938600	Enhancers	Psoas Muscle	Psoas
42	chr1:118938400-118939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:118938400-118940000	Enhancers	Fetal Muscle Leg	muscle
44	chr1:118938600-118939000	Weak transcription	Psoas Muscle	Psoas
45	chr1:118939000-118940000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:118939000-118940000	Enhancers	Psoas Muscle	Psoas
47	chr1:118939200-118939600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:118939200-118939600	Enhancers	Pancreas	Pancrea
49	chr1:118939200-118940000	Enhancers	Esophagus	oesophagus
50	chr1:118939400-118939600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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