Variant report

Variant	nsv1046236
Chromosome Location	chr10:43968075-44012933
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:5)
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	chr10:43976615..43979208-chr10:43982214..43983793,2	K562	blood:
2	chr10:44012452..44015448-chr10:44015913..44019917,3	MCF-7	breast:
3	chr10:43896691..43898311-chr10:43965557..43968541,2	K562	blood:
4	chr10:43971059..43972793-chr10:43982903..43984955,2	MCF-7	breast:
5	chr10:43976615..43979208-chr10:43982214..43983793,2	K562	blood:
6	chr10:43971469..43973705-chr10:43977289..43979716,2	K562	blood:
7	chr10:43930707..43932404-chr10:43975241..43977746,2	K562	blood:
8	chr10:43971469..43973705-chr10:43977289..43979716,2	K562	blood:
9	chr10:43982430..43985170-chr10:43989112..43991978,2	K562	blood:
10	chr10:43982430..43985170-chr10:43989112..43991978,2	K562	blood:
11	chr10:43971059..43972793-chr10:43982903..43984955,2	MCF-7	breast:
12	chr10:43970982..43973705-chr10:43978216..43981135,2	K562	blood:
13	chr10:43970982..43973705-chr10:43978216..43981135,2	K562	blood:
14	chr10:43902685..43904654-chr10:43976459..43978069,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FXYD4-6	chr10:43986820-43987264	NONHSAT012971
2	lnc-FXYD4-6	chr10:43980592-43980619	NONHSAT012971
3	lnc-FXYD4-4	chr10:43971169-43971295	NR_026693
4	lnc-FXYD4-4	chr10:43976877-43978007	NR_026693
5	lnc-FXYD4-4	chr10:43971555-43971650	NR_026693

No data

Variant related genes	Relation type
ENSG00000243660	chromatin interactions
ENSG00000236114	chromatin interactions
ENSG00000169813	chromatin interactions

Extended variants
information (count: 1366 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187430440	chr10:43968130-43968131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74137735	chr10:43968150-43968151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146049945	chr10:43968154-43968155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542534835	chr10:43968218-43968219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192282255	chr10:43968319-43968320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549118739	chr10:43968320-43968321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569277808	chr10:43968353-43968354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369046791	chr10:43968371-43968372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546678519	chr10:43968399-43968400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565083045	chr10:43968400-43968401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532513291	chr10:43968458-43968459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185503637	chr10:43968462-43968463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375326367	chr10:43968493-43968494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367584724	chr10:43968557-43968558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75052827	chr10:43968571-43968572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569247185	chr10:43968596-43968597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369622433	chr10:43968648-43968649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139814032	chr10:43968686-43968687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35792471	chr10:43968774-43968775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190807353	chr10:43968785-43968786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571244087	chr10:43968836-43968837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567062869	chr10:43968914-43968915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9422371	chr10:43968915-43968916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553083442	chr10:43968942-43968943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192295952	chr10:43969028-43969029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184252399	chr10:43969036-43969037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556655424	chr10:43969038-43969039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575198484	chr10:43969052-43969053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543338502	chr10:43969053-43969054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376014150	chr10:43969071-43969072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560888346	chr10:43969116-43969117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7899933	chr10:43969125-43969126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540063791	chr10:43969145-43969146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565362583	chr10:43969146-43969147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370070179	chr10:43969153-43969154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144807619	chr10:43969156-43969157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75709049	chr10:43969179-43969180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145503987	chr10:43969255-43969256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200267315	chr10:43969294-43969295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530159463	chr10:43969339-43969340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548898611	chr10:43969342-43969343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542746257	chr10:43969344-43969345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147750822	chr10:43969350-43969351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189198465	chr10:43969353-43969354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534378030	chr10:43969390-43969391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552770583	chr10:43969449-43969450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571046621	chr10:43969595-43969596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111998607	chr10:43969608-43969609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538308731	chr10:43969609-43969610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398114275	chr10:43969620-43969621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43952000-43972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:43952000-43973200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:43952000-43977200	Weak transcription	HSMMtube	muscle
4	chr10:43952200-43975200	Weak transcription	Fetal Stomach	stomach
5	chr10:43952400-43976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:43957800-43971800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:43957800-43976600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:43957800-43977200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:43962800-43976400	Weak transcription	Primary T cells from cord blood	blood
10	chr10:43965200-43971200	Weak transcription	Primary B cells from cord blood	blood
11	chr10:43966600-43976400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:43967000-43976400	Weak transcription	Aorta	Aorta
13	chr10:43967200-43972000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:43967400-43978600	Weak transcription	Pancreas	Pancrea
15	chr10:43967800-43971000	Weak transcription	Liver	Liver
16	chr10:43968000-43968200	Enhancers	Fetal Intestine Small	intestine
17	chr10:43968000-43971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:43968000-43976400	Weak transcription	Ovary	ovary
19	chr10:43968200-43971400	Weak transcription	Adipose Nuclei	Adipose
20	chr10:43968200-43974800	Weak transcription	Fetal Intestine Small	intestine
21	chr10:43968800-43977200	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:43969000-43977000	Weak transcription	Brain Anterior Caudate	brain
23	chr10:43969200-43971400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:43969400-43977200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:43969600-43977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:43969800-43978200	Weak transcription	Fetal Kidney	kidney
27	chr10:43970000-43971200	Weak transcription	Lung	lung
28	chr10:43970600-43973400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:43971000-43972400	Strong transcription	Liver	Liver
30	chr10:43971200-43971600	Strong transcription	Lung	lung
31	chr10:43971200-43971600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:43971200-43972000	Strong transcription	Primary B cells from cord blood	blood
33	chr10:43971200-43976400	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:43971400-43972200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:43971400-43972200	Strong transcription	Adipose Nuclei	Adipose
36	chr10:43971400-43972200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr10:43971400-43974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:43971600-43973000	Weak transcription	Lung	lung
39	chr10:43972000-43974800	Weak transcription	Primary B cells from cord blood	blood
40	chr10:43972200-43976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:43972200-43976400	Weak transcription	Adipose Nuclei	Adipose
42	chr10:43972200-43976800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:43972400-43976000	Weak transcription	Liver	Liver
44	chr10:43973200-43973400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:43973400-43973600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:43974600-43975200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr10:43974600-43975400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:43974600-43975400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:43974800-43975200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr10:43974800-43975200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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