Variant report

Variant	nsv1042647
Chromosome Location	chr12:104861494-104888494
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
2	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:
3	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
4	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
5	chr12:104871756..104873492-chr12:104876935..104879923,2	K562	blood:
6	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
7	chr12:104867859..104869379-chr12:104998403..105000393,2	K562	blood:
8	chr12:104877368..104879686-chr12:104993577..104996445,2	K562	blood:
9	chr12:104850865..104852398-chr12:104863309..104864984,2	MCF-7	breast:
10	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
11	chr12:104681309..104682923-chr12:104867248..104870196,2	K562	blood:
12	chr12:104849472..104852370-chr12:104873172..104875509,2	K562	blood:
13	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
14	chr12:104885329..104887209-chr12:104893260..104894913,2	K562	blood:
15	chr12:104877368..104879475-chr12:104994945..104997533,2	K562	blood:
16	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
17	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:
18	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
19	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
20	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
21	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
22	chr12:104858578..104860832-chr12:104863067..104865005,3	K562	blood:
23	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:
24	chr12:104849610..104851903-chr12:104877602..104879346,2	K562	blood:
25	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:
26	chr12:104852839..104855254-chr12:104863893..104866118,2	K562	blood:
27	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:
28	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
29	chr12:104871756..104873492-chr12:104876935..104879923,2	K562	blood:
30	chr12:104878866..104881673-chr12:104885573..104889432,3	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
ENSG00000171310	chromatin interactions
ENSG00000198431	chromatin interactions
UBE2Q1	miRNA target sites

Extended variants
information (count: 1054 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4964797	chr12:104861494-104861495	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374920885	chr12:104861508-104861509	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187787209	chr12:104861522-104861523	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568790212	chr12:104861536-104861537	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556200330	chr12:104861593-104861594	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569706362	chr12:104861602-104861603	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
7	rs145635696	chr12:104861609-104861610	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
8	rs138171549	chr12:104861634-104861635	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
9	rs572174969	chr12:104861759-104861760	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537283021	chr12:104861784-104861785	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540924154	chr12:104861802-104861803	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191491877	chr12:104861819-104861820	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577527872	chr12:104861901-104861902	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545743872	chr12:104861908-104861909	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370166915	chr12:104861952-104861953	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs4964292	chr12:104862036-104862037	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35016881	chr12:104862073-104862074	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142772127	chr12:104862079-104862080	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs562283064	chr12:104862080-104862081	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs527933440	chr12:104862104-104862105	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548098910	chr12:104862131-104862132	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs114851029	chr12:104862144-104862145	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11829413	chr12:104862188-104862189	Enhancers Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs78711260	chr12:104862212-104862213	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs549771597	chr12:104862248-104862249	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs56098048	chr12:104862258-104862259	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146080977	chr12:104862313-104862314	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs139798449	chr12:104862328-104862329	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs565859273	chr12:104862355-104862356	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs535238808	chr12:104862368-104862369	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs369454679	chr12:104862374-104862375	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557531281	chr12:104862379-104862380	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs183735342	chr12:104862380-104862381	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs149398024	chr12:104862391-104862392	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs144807983	chr12:104862427-104862428	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs371213342	chr12:104862532-104862533	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs372858165	chr12:104862547-104862548	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576384321	chr12:104862554-104862555	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs148585222	chr12:104862585-104862586	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10746001	chr12:104862611-104862612	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs79822966	chr12:104862621-104862622	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541612417	chr12:104862631-104862632	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs7137559	chr12:104862816-104862817	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs376103600	chr12:104862830-104862831	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375196749	chr12:104862876-104862877	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533654159	chr12:104862915-104862916	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575590227	chr12:104862920-104862921	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188795838	chr12:104862921-104862922	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561318813	chr12:104862929-104862930	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563292234	chr12:104862949-104862950	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	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:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:104855400-104862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:104855400-104862800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:104855400-104863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104856000-104861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:104856800-104864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:104856800-104867400	Enhancers	Thymus	Thymus
22	chr12:104857000-104865600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:104857000-104867000	Weak transcription	NH-A	brain
24	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:104857400-104863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:104857400-104864600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:104857400-104866200	Weak transcription	Fetal Stomach	stomach
30	chr12:104857600-104863600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104857800-104863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
35	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
36	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
37	chr12:104857800-104873600	Weak transcription	A549	lung
38	chr12:104858200-104866600	Weak transcription	Placenta	Placenta
39	chr12:104858800-104861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:104859200-104862200	Weak transcription	Brain Anterior Caudate	brain
41	chr12:104859200-104867200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:104859400-104863200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:104859400-104863800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:104859400-104866600	Weak transcription	Colonic Mucosa	Colon
46	chr12:104859600-104862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:104859600-104862400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:104859600-104864000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr12:104860000-104861800	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr12:104860200-104862000	Flanking Active TSS	K562	blood

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