Variant report

Variant	nsv540513
Chromosome Location	chr10:22031022-22065456
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22032480..22035941-chr10:22037308..22040299,3	K562	blood:
2	chr10:21784844..21786562-chr10:22030606..22032184,2	MCF-7	breast:
3	chr10:21811101..21813448-chr10:22038110..22039893,2	K562	blood:
4	chr10:22052432..22054490-chr10:22062596..22064322,2	K562	blood:
5	chr10:22028646..22030988-chr10:22031171..22034397,3	K562	blood:
6	chr10:22042388..22046102-chr10:22047917..22049618,3	K562	blood:
7	chr10:22052432..22054490-chr10:22062596..22064322,2	K562	blood:
8	chr10:22046761..22048498-chr10:22055070..22057149,2	K562	blood:
9	chr10:22028263..22029994-chr10:22035034..22036856,2	K562	blood:
10	chr10:22042822..22044423-chr10:22044598..22047460,2	MCF-7	breast:
11	chr10:22032512..22034236-chr10:22040001..22042457,2	MCF-7	breast:
12	chr10:22046761..22048498-chr10:22055070..22057149,2	K562	blood:
13	chr10:22026744..22030038-chr10:22030845..22033981,3	MCF-7	breast:
14	chr10:21814758..21816437-chr10:22031301..22033620,2	MCF-7	breast:
15	chr10:22042388..22046102-chr10:22047917..22049618,3	K562	blood:
16	chr10:22021257..22022866-chr10:22032491..22034519,2	MCF-7	breast:
17	chr10:22036433..22039412-chr10:22043062..22044607,2	MCF-7	breast:
18	chr10:22032480..22035941-chr10:22037308..22040299,3	K562	blood:
19	chr10:22030135..22033063-chr10:22034541..22036307,2	K562	blood:
20	chr10:22032512..22034236-chr10:22040001..22042457,2	MCF-7	breast:
21	chr10:22030135..22033063-chr10:22034541..22036307,2	K562	blood:
22	chr10:21821596..21824458-chr10:22031308..22033565,2	MCF-7	breast:
23	chr10:22042822..22044423-chr10:22044598..22047460,2	MCF-7	breast:
24	chr10:22036433..22039412-chr10:22043062..22044607,2	MCF-7	breast:
25	chr10:21783544..21786537-chr10:22040150..22042469,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	DNAJC1	hsa-miR-124-3p	chr10:22045509-22045528
2	DNAJC1	hsa-miR-124-3p	chr10:22045515-22045508
3	DNAJC1	hsa-let-7b-5p	chr10:22045537-22045531
4	DNAJC1	hsa-let-7b-5p	chr10:22045532-22045553

Variant related genes	Relation type
ENSG00000222071	chromatin interactions
ENSG00000078403	chromatin interactions
ENSG00000180592	chromatin interactions
ENSG00000204682	chromatin interactions

Extended variants
information (count: 1401 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1401 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116086670	chr10:22031025-22031026	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567796796	chr10:22031095-22031096	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553230940	chr10:22031108-22031109	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573188902	chr10:22031154-22031155	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534801613	chr10:22031169-22031170	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs41299228	chr10:22031194-22031195	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558650448	chr10:22031250-22031251	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149994406	chr10:22031264-22031265	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575696904	chr10:22031271-22031272	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544256269	chr10:22031292-22031293	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561184233	chr10:22031308-22031309	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs573966213	chr10:22031325-22031326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs73594504	chr10:22031359-22031360	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372455208	chr10:22031365-22031366	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs533658686	chr10:22031387-22031388	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs560826322	chr10:22031391-22031392	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532662736	chr10:22031399-22031400	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551380694	chr10:22031423-22031424	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs41304605	chr10:22031436-22031437	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530632986	chr10:22031450-22031451	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147561617	chr10:22031455-22031456	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550687361	chr10:22031465-22031466	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559098835	chr10:22031493-22031494	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs577562830	chr10:22031517-22031518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs78154192	chr10:22031556-22031557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs559926941	chr10:22031559-22031560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs191908321	chr10:22031591-22031592	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2282395	chr10:22031607-22031608	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538509781	chr10:22031654-22031655	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs117330146	chr10:22031679-22031680	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575222814	chr10:22031683-22031684	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs141847522	chr10:22031766-22031767	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs150622664	chr10:22031784-22031785	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574727463	chr10:22031810-22031811	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs183711518	chr10:22031811-22031812	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs560454758	chr10:22031813-22031814	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs532847124	chr10:22031844-22031845	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs542382283	chr10:22031884-22031885	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs41299226	chr10:22031902-22031903	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564935640	chr10:22031946-22031947	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530517958	chr10:22032000-22032001	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs11012782	chr10:22032054-22032055	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs528416176	chr10:22032071-22032072	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550725364	chr10:22032163-22032164	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567383596	chr10:22032186-22032187	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140699186	chr10:22032192-22032193	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546150394	chr10:22032244-22032245	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546776876	chr10:22032268-22032269	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566507766	chr10:22032329-22032330	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538961004	chr10:22032372-22032373	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22014600-22032400	Weak transcription	Small Intestine	intestine
2	chr10:22014600-22033200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:22015000-22034200	Strong transcription	Dnd41	blood
4	chr10:22015200-22034200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:22015200-22034400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:22016800-22038800	Weak transcription	Stomach Mucosa	stomach
7	chr10:22018200-22034400	Strong transcription	Fetal Intestine Large	intestine
8	chr10:22019800-22034400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:22021200-22036000	Weak transcription	Fetal Brain Male	brain
10	chr10:22021400-22034400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:22021600-22032800	Strong transcription	HepG2	liver
12	chr10:22021600-22035000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr10:22021800-22032600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:22021800-22034400	Strong transcription	Placenta	Placenta
15	chr10:22022400-22031400	Strong transcription	Liver	Liver
16	chr10:22022600-22034000	Strong transcription	Adipose Nuclei	Adipose
17	chr10:22022600-22034400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:22022600-22034400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr10:22022600-22034400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr10:22022800-22031600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:22022800-22035400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:22022800-22037800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr10:22023000-22033800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr10:22023000-22034200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:22023000-22034400	Strong transcription	A549	lung
26	chr10:22023000-22046200	Weak transcription	Right Atrium	heart
27	chr10:22023200-22034000	Strong transcription	Osteobl	bone
28	chr10:22023200-22039800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:22023600-22035400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:22023800-22034400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:22023800-22036600	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:22024200-22034400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:22024200-22034400	Strong transcription	Left Ventricle	heart
34	chr10:22024200-22034400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:22024200-22034400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr10:22024200-22036000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr10:22024200-22037000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:22024400-22033800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:22024400-22034400	Strong transcription	NHLF	lung
40	chr10:22024600-22039000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:22024800-22031200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:22024800-22039800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:22025200-22031200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr10:22025800-22034000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:22026000-22032600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:22026000-22034400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr10:22026200-22033200	Weak transcription	Right Ventricle	heart
48	chr10:22026400-22031600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:22026400-22034400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:22026600-22034400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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