Variant report

Variant	nsv963870
Chromosome Location	chr2:10269043-10272937
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10270582..10273384-chr2:10586472..10588752,3	K562	blood:
2	chr2:10272153..10274468-chr2:10296810..10299007,2	MCF-7	breast:
3	chr17:56408352..56409911-chr2:10267487..10269783,2	K562	blood:
4	chr2:10270582..10273384-chr2:10586380..10588752,3	K562	blood:
5	chr2:10272230..10274773-chr2:10544365..10546593,2	MCF-7	breast:
6	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
7	chr2:10269549..10271844-chr2:10457864..10459468,2	MCF-7	breast:
8	chr2:10197998..10200342-chr2:10271933..10274475,2	K562	blood:
9	chr2:10272222..10273118-chr8:38240196..38241061,2	Hela-S3	cervix:
10	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
11	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
12	chr2:10268949..10270497-chr2:10295428..10298201,2	K562	blood:
13	chr2:10238235..10241032-chr2:10272026..10274970,3	K562	blood:
14	chr2:10268261..10270412-chr2:10564291..10566012,3	K562	blood:
15	chr2:10272209..10275438-chr2:10333614..10336814,3	K562	blood:
16	chr2:10271027..10273752-chr6:16266812..16269282,2	K562	blood:
17	chr2:10271666..10276241-chr2:10279595..10283078,5	MCF-7	breast:
18	chr2:10212601..10214407-chr2:10268587..10270323,2	K562	blood:

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RRM2	hsa-let-7a-5p	chr2:10269631-10269656
2	RRM2	hsa-miR-30c-5p	chr2:10269855-10269875
3	RRM2	hsa-let-7g-5p	chr2:10269631-10269656
4	RRM2	hsa-let-7g-5p	chr2:10269649-10269656
5	RRM2	hsa-let-7a-5p	chr2:10269649-10269656
6	RRM2	hsa-miR-342-3p	chr2:10270517-10270541
7	RRM2	hsa-miR-30a-5p	chr2:10269854-10269875
8	RRM2	hsa-let-7b-5p	chr2:10269649-10269656
9	RRM2	hsa-miR-342-3p	chr2:10270284-10270309
10	RRM2	hsa-let-7b-5p	chr2:10269634-10269656

Variant related genes	Relation type
ENSG00000265206	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000163009	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375182199	chr2:10269047-10269048	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201345137	chr2:10269053-10269054	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148740312	chr2:10269068-10269069	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562648012	chr2:10269093-10269094	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148559555	chr2:10269097-10269098	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369537395	chr2:10269105-10269106	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375249597	chr2:10269107-10269108	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551624348	chr2:10269167-10269168	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369824768	chr2:10269235-10269236	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373279736	chr2:10269284-10269285	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142939100	chr2:10269301-10269302	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541624986	chr2:10269303-10269304	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370125026	chr2:10269322-10269323	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62129882	chr2:10269331-10269332	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373151401	chr2:10269361-10269362	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142631876	chr2:10269367-10269368	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs15516	chr2:10269481-10269482	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371457678	chr2:10269483-10269484	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376458388	chr2:10269534-10269535	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371603045	chr2:10269544-10269545	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79162203	chr2:10269545-10269546	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs5030757	chr2:10269548-10269549	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567302711	chr2:10269562-10269563	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535862183	chr2:10269591-10269592	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186654277	chr2:10269612-10269613	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151112936	chr2:10269613-10269614	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538123832	chr2:10269659-10269660	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557947933	chr2:10269685-10269686	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577803252	chr2:10269703-10269704	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534347219	chr2:10269728-10269729	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs5030759	chr2:10269785-10269786	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191054082	chr2:10269818-10269819	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs574906421	chr2:10269827-10269828	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs139954791	chr2:10269856-10269857	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
35	rs79765591	chr2:10269866-10269867	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
36	rs534766369	chr2:10269910-10269911	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs545306582	chr2:10269922-10269923	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs144948625	chr2:10269946-10269947	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs185874295	chr2:10269952-10269953	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs547511857	chr2:10270015-10270016	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs62129883	chr2:10270094-10270095	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10178011	chr2:10270158-10270159	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs201630221	chr2:10270178-10270179	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs549536921	chr2:10270190-10270191	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs569278922	chr2:10270210-10270211	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs368691670	chr2:10270235-10270236	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs538183732	chr2:10270236-10270237	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs551639029	chr2:10270268-10270269	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs114571498	chr2:10270291-10270292	Strong transcription Weak transcription Transcr. at gene 5' and 3'	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
50	rs534137052	chr2:10270342-10270343	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10262800-10270400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:10263800-10272200	Weak transcription	Gastric	stomach
3	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
4	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
5	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:10264600-10272000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10265000-10269800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:10265000-10270000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10265200-10270400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10265400-10269600	Weak transcription	Small Intestine	intestine
12	chr2:10265400-10269800	Genic enhancers	HepG2	liver
13	chr2:10265400-10269800	Genic enhancers	K562	blood
14	chr2:10265400-10269800	Strong transcription	NHEK	skin
15	chr2:10265400-10270000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:10265400-10270000	Genic enhancers	A549	lung
17	chr2:10265400-10271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:10265400-10271400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:10265400-10272000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:10265400-10272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:10265400-10273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
23	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
24	chr2:10265600-10269600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:10265600-10270200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:10265600-10272800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:10266200-10269600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:10266200-10269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:10266200-10270400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr2:10266200-10271800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:10266200-10272000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:10266200-10272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:10266200-10272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:10266200-10272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:10266400-10269600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:10266400-10273600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:10266600-10269200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:10266600-10273000	Strong transcription	HMEC	breast
44	chr2:10267000-10270200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:10267000-10271400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:10267200-10269800	Strong transcription	Osteobl	bone
47	chr2:10267200-10270000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:10267200-10270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:10267200-10272000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:10267200-10273000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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