Variant report

Variant	nsv868
Chromosome Location	chr12:104858964-104895572
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:42)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
2	chr12:104871756..104873492-chr12:104876935..104879923,2	K562	blood:
3	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:
4	chr12:104867859..104869379-chr12:104998403..105000393,2	K562	blood:
5	chr12:104885329..104887209-chr12:104893260..104894913,2	K562	blood:
6	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
7	chr12:104858578..104860832-chr12:104863067..104865005,3	K562	blood:
8	chr12:104858831..104861040-chr12:104895664..104898086,2	K562	blood:
9	chr12:104849161..104852195-chr12:104895253..104897377,3	K562	blood:
10	chr12:104892344..104895135-chr12:104897977..104900926,3	MCF-7	breast:
11	chr12:104871756..104873492-chr12:104876935..104879923,2	K562	blood:
12	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
13	chr12:104852839..104855254-chr12:104863893..104866118,2	K562	blood:
14	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
15	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
16	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
17	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:
18	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
19	chr12:104849472..104852370-chr12:104873172..104875509,2	K562	blood:
20	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:
21	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
22	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
23	chr12:104893740..104896062-chr12:104897275..104899084,2	K562	blood:
24	chr12:104681309..104682923-chr12:104867248..104870196,2	K562	blood:
25	chr12:104877368..104879686-chr12:104993577..104996445,2	K562	blood:
26	chr12:104850865..104852398-chr12:104863309..104864984,2	MCF-7	breast:
27	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:
28	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:
29	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
30	chr12:104894805..104896698-chr12:104899476..104901179,2	K562	blood:
31	chr12:104858578..104860832-chr12:104863067..104865005,3	K562	blood:
32	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:
33	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
34	chr12:104885329..104887209-chr12:104893260..104894913,2	K562	blood:
35	chr12:104877368..104879475-chr12:104994945..104997533,2	K562	blood:
36	chr12:104849610..104851903-chr12:104877602..104879346,2	K562	blood:
37	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
38	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:
39	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
40	chr12:104889682..104892508-chr12:104899984..104902053,3	K562	blood:
41	chr12:104850303..104852341-chr12:104891905..104894445,2	K562	blood:
42	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFYB-2	chr12:104859855-104862733	ENSG00000245335

No data

Variant related genes	Relation type
ENSG00000198431	chromatin interactions
ENSG00000171310	chromatin interactions
UBE2Q1	miRNA target sites

Extended variants
information (count: 1369 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1369 , 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	rs187195506	chr12:104858988-104858989	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372726163	chr12:104859085-104859086	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544905858	chr12:104859091-104859092	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151318588	chr12:104859095-104859096	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574403388	chr12:104859107-104859108	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539949748	chr12:104859114-104859115	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139425081	chr12:104859148-104859149	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373543180	chr12:104859186-104859187	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17035629	chr12:104859237-104859238	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545974595	chr12:104859280-104859281	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562693809	chr12:104859318-104859319	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34588723	chr12:104859375-104859376	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151084840	chr12:104859486-104859487	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs1343928	chr12:104859492-104859493	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548497055	chr12:104859500-104859501	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs539295076	chr12:104859508-104859509	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs567528046	chr12:104859568-104859569	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs530150795	chr12:104859594-104859595	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs372303461	chr12:104859622-104859623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369509819	chr12:104859652-104859653	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11112068	chr12:104859655-104859656	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189790387	chr12:104859699-104859700	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552318958	chr12:104859711-104859712	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569142911	chr12:104859719-104859720	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182084417	chr12:104859734-104859735	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185596579	chr12:104859737-104859738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555291408	chr12:104859740-104859741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377566357	chr12:104859838-104859839	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574340536	chr12:104859879-104859880	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs533740017	chr12:104859885-104859886	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs118000883	chr12:104859914-104859915	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs542589612	chr12:104859942-104859943	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs190021968	chr12:104860078-104860079	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
34	rs115687654	chr12:104860079-104860080	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562654752	chr12:104860090-104860091	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
36	rs576212611	chr12:104860114-104860115	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
37	rs371092261	chr12:104860121-104860122	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
38	rs145829741	chr12:104860131-104860132	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566572246	chr12:104860146-104860147	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
40	rs561979304	chr12:104860155-104860156	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
41	rs527596179	chr12:104860181-104860182	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
42	rs183846542	chr12:104860201-104860202	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs147802598	chr12:104860203-104860204	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148869976	chr12:104860204-104860205	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs116204434	chr12:104860242-104860243	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs569106460	chr12:104860248-104860249	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375287932	chr12:104860257-104860258	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548506686	chr12:104860265-104860266	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs368323777	chr12:104860267-104860268	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs528316031	chr12:104860403-104860404	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:1544 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853400-104862200	Weak transcription	Gastric	stomach
3	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
4	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
5	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:104854200-104862600	Weak transcription	Fetal Brain Female	brain
8	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:104855000-104859200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:104855200-104859000	Weak transcription	Colonic Mucosa	Colon
11	chr12:104855200-104861200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:104855200-104861200	Enhancers	Fetal Thymus	thymus
13	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:104855400-104859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:104855400-104861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104855400-104862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:104855400-104862800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:104855400-104863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
23	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104855600-104860600	Weak transcription	HMEC	breast
26	chr12:104855600-104860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:104856000-104861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:104856200-104859600	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr12:104856800-104864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:104856800-104867400	Enhancers	Thymus	Thymus
31	chr12:104857000-104859000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:104857000-104865600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:104857000-104867000	Weak transcription	NH-A	brain
34	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:104857400-104863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:104857400-104864600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:104857400-104866200	Weak transcription	Fetal Stomach	stomach
40	chr12:104857600-104863600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:104857800-104859600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:104857800-104861200	Enhancers	Primary T cells from cord blood	blood
44	chr12:104857800-104861200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr12:104857800-104863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
48	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
49	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
50	chr12:104857800-104873600	Weak transcription	A549	lung

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