Variant report

Variant	nsv947283
Chromosome Location	chr1:85150944-85155058
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85150666..85152741-chr1:85221920..85223682,2	K562	blood:
2	chr1:78469181..78471632-chr1:85154975..85157700,2	K562	blood:
3	chr1:85151664..85154712-chr1:85171325..85174497,4	K562	blood:
4	chr1:85148980..85153472-chr1:85154785..85157267,4	MCF-7	breast:
5	chr1:85147711..85150959-chr1:85153756..85157010,4	MCF-7	breast:
6	chr1:85038587..85040484-chr1:85154316..85157145,3	K562	blood:
7	chr1:85152648..85155097-chr1:85155098..85157489,2	MCF-7	breast:
8	chr1:85153044..85155913-chr1:85168206..85170903,2	K562	blood:
9	chr1:84542242..84543745-chr1:85154770..85157524,2	K562	blood:
10	chr1:85147212..85149593-chr1:85150056..85151794,2	MCF-7	breast:
11	chr1:84969596..84972494-chr1:85154864..85156849,3	K562	blood:
12	chr1:85143129..85145344-chr1:85148403..85151032,2	K562	blood:
13	chr1:85150908..85155231-chr1:85184814..85188587,5	K562	blood:
14	chr1:84970994..84973830-chr1:85154472..85157447,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162616	chromatin interactions
ENSG00000117151	chromatin interactions
ENSG00000271576	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000117155	chromatin interactions
ENSG00000122432	chromatin interactions
ENSG00000174021	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141175740	chr1:85150944-85150945	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34532332	chr1:85151039-85151040	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147427009	chr1:85151041-85151042	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77353625	chr1:85151067-85151068	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557087121	chr1:85151104-85151105	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573906525	chr1:85151117-85151118	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182193227	chr1:85151142-85151143	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552817214	chr1:85151147-85151148	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112098998	chr1:85151171-85151172	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572778408	chr1:85151172-85151173	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537478835	chr1:85151182-85151183	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565170118	chr1:85151227-85151228	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186863693	chr1:85151243-85151244	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544519937	chr1:85151359-85151360	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3768240	chr1:85151374-85151375	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369682548	chr1:85151378-85151379	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374861662	chr1:85151434-85151435	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541007164	chr1:85151514-85151515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529861781	chr1:85151528-85151529	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549427860	chr1:85151531-85151532	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139795335	chr1:85151583-85151584	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190102210	chr1:85151598-85151599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367769849	chr1:85151610-85151611	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554243102	chr1:85151612-85151613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571313047	chr1:85151622-85151623	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371597451	chr1:85151676-85151677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537308765	chr1:85151677-85151678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550878065	chr1:85151753-85151754	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567820185	chr1:85151758-85151759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139770972	chr1:85151854-85151855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536476871	chr1:85151875-85151876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181206201	chr1:85151903-85151904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112024737	chr1:85151922-85151923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572894730	chr1:85151955-85151956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185864521	chr1:85151958-85151959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558539697	chr1:85151959-85151960	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575319447	chr1:85151966-85151967	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544481210	chr1:85152034-85152035	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561187086	chr1:85152071-85152072	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189838221	chr1:85152122-85152123	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540087813	chr1:85152206-85152207	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559787172	chr1:85152229-85152230	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530746445	chr1:85152282-85152283	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528623928	chr1:85152342-85152343	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376158889	chr1:85152375-85152376	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180699732	chr1:85152397-85152398	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186011429	chr1:85152406-85152407	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192172877	chr1:85152423-85152424	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143624451	chr1:85152437-85152438	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184002703	chr1:85152493-85152494	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	17440070	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85106400-85155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85108000-85155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:85111800-85152000	Weak transcription	Aorta	Aorta
4	chr1:85124600-85154400	Weak transcription	A549	lung
5	chr1:85124800-85153800	Weak transcription	Hela-S3	cervix
6	chr1:85125000-85153400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:85125000-85153600	Weak transcription	Fetal Kidney	kidney
8	chr1:85126200-85154000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:85126400-85154200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:85126400-85154800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:85126400-85155200	Weak transcription	Left Ventricle	heart
12	chr1:85126600-85152200	Weak transcription	Thymus	Thymus
13	chr1:85126600-85153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:85126600-85154400	Weak transcription	Fetal Stomach	stomach
15	chr1:85127800-85154400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:85128200-85153600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:85128600-85153200	Weak transcription	Dnd41	blood
18	chr1:85128800-85151000	Weak transcription	Fetal Brain Female	brain
19	chr1:85130400-85153600	Weak transcription	NHDF-Ad	bronchial
20	chr1:85134400-85153400	Weak transcription	NHLF	lung
21	chr1:85138000-85154800	Weak transcription	HSMMtube	muscle
22	chr1:85138400-85153400	Weak transcription	Fetal Thymus	thymus
23	chr1:85138600-85153400	Weak transcription	HSMM	muscle
24	chr1:85138800-85155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:85139800-85152800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:85139800-85153000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:85140000-85154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:85140800-85153400	Weak transcription	NHEK	skin
29	chr1:85141000-85153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:85141000-85154200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:85141000-85154200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:85141400-85152800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:85141400-85154200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:85141600-85152800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:85141800-85154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:85142200-85154200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:85142200-85154200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:85143600-85152800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:85143600-85153400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:85143600-85154600	Weak transcription	Primary B cells from cord blood	blood
41	chr1:85143800-85154200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:85144400-85154400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:85144600-85153200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85145800-85151200	Weak transcription	Fetal Brain Male	brain
45	chr1:85146000-85151200	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:85146000-85153400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:85146800-85153200	Weak transcription	Osteobl	bone
48	chr1:85147600-85152800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:85148000-85152000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:85149200-85151000	Genic enhancers	K562	blood

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