Variant report

Variant	nsv1003027
Chromosome Location	chr1:10367332-10377971
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10366942..10370900-chr1:10370974..10374307,3	K562	blood:
2	chr1:10366942..10370900-chr1:10370974..10374307,3	K562	blood:
3	chr1:10362813..10365795-chr1:10373892..10375674,2	K562	blood:
4	chr1:10363969..10365666-chr1:10368809..10370955,2	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KIF1B	hsa-miR-9-5p	chr1:10367933-10367939
2	KIF1B	hsa-miR-124-3p	chr1:10368174-10368194
3	KIF1B	hsa-miR-124-3p	chr1:10368212-10368218
4	KIF1B	hsa-miR-9-5p	chr1:10367916-10367940

Extended variants
information (count: 393 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:393 , 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	rs142468272	chr1:10367350-10367351	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544161583	chr1:10367378-10367379	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2004034	chr1:10367424-10367425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs145733356	chr1:10367443-10367444	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541274721	chr1:10367538-10367539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559888050	chr1:10367548-10367549	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs41274466	chr1:10367570-10367571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143823495	chr1:10367579-10367580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562980434	chr1:10367588-10367589	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1065828	chr1:10367591-10367592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79405882	chr1:10367604-10367605	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193222943	chr1:10367633-10367634	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185481776	chr1:10367643-10367644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141358777	chr1:10367686-10367687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529603522	chr1:10367700-10367701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568242121	chr1:10367712-10367713	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190384993	chr1:10367782-10367783	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34480927	chr1:10367788-10367789	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368966853	chr1:10367808-10367809	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145128126	chr1:10367818-10367819	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576570168	chr1:10367829-10367830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537445846	chr1:10367884-10367885	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375721546	chr1:10367902-10367903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558871810	chr1:10367908-10367909	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577509475	chr1:10367959-10367960	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142832592	chr1:10368084-10368085	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17401588	chr1:10368099-10368100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs556515444	chr1:10368107-10368108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539035197	chr1:10368116-10368117	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574678674	chr1:10368141-10368142	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200180628	chr1:10368145-10368146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541987977	chr1:10368148-10368149	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563067434	chr1:10368227-10368228	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530473693	chr1:10368258-10368259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551891400	chr1:10368267-10368268	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141229777	chr1:10368282-10368283	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150717278	chr1:10368286-10368287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569603474	chr1:10368287-10368288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546850561	chr1:10368319-10368320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568195604	chr1:10368403-10368404	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537297485	chr1:10368415-10368416	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529117221	chr1:10368430-10368431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181701853	chr1:10368461-10368462	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555132812	chr1:10368474-10368475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149524751	chr1:10368500-10368501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113045685	chr1:10368524-10368525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537534300	chr1:10368560-10368561	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558729513	chr1:10368643-10368644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111832007	chr1:10368662-10368663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147225148	chr1:10368688-10368689	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	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
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
8	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:10356600-10368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:10356800-10367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:10356800-10368000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:10357200-10368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
15	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
16	chr1:10358000-10367800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:10358400-10369400	Weak transcription	Psoas Muscle	Psoas
19	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
21	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
22	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:10362600-10367400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:10362600-10367400	Strong transcription	Osteobl	bone
25	chr1:10363000-10373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:10363600-10373400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:10363800-10380000	Weak transcription	A549	lung
29	chr1:10364200-10368600	Weak transcription	K562	blood
30	chr1:10364200-10381800	Weak transcription	Gastric	stomach
31	chr1:10364200-10394600	Weak transcription	Dnd41	blood
32	chr1:10364400-10367800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:10364600-10368000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:10364600-10368000	Weak transcription	Right Ventricle	heart
37	chr1:10364600-10369400	Weak transcription	Ovary	ovary
38	chr1:10364600-10369400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
42	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
43	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
44	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:10364800-10367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
48	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
49	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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