Variant report

Variant	esv3426418
Chromosome Location	chr12:8703297-8717793
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8703161..8706323-chr12:8710096..8711893,3	K562	blood:
2	chr12:8703161..8706323-chr12:8710096..8711893,3	K562	blood:
3	chr12:8699767..8702661-chr12:8703535..8705829,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC4D-1	chr12:8717266-8717612	NONHSAT026348
2	lnc-CLEC4E-1	chr12:8704596-8704736	ENSG00000255801
3	lnc-CLEC4D-1	chr12:8717334-8717612	XLOC_009643
4	lnc-CLEC4D-1	chr12:8716835-8717177	NONHSAT026348
5	lnc-CLEC4D-1	chr12:8717523-8717612	XLOC_009643
6	lnc-CLEC4D-1	chr12:8717333-8717612	NONHSAT026349

No data

Extended variants
information (count: 403 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10770853	chr12:8703333-8703334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10770854	chr12:8703351-8703352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530115317	chr12:8703363-8703364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183782294	chr12:8703370-8703371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187920107	chr12:8703397-8703398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191288498	chr12:8703398-8703399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71447508	chr12:8703452-8703453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10743422	chr12:8703479-8703480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145785555	chr12:8703516-8703517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369233544	chr12:8703526-8703527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7961978	chr12:8703575-8703576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7307154	chr12:8703676-8703677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548745598	chr12:8703760-8703761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112000019	chr12:8703775-8703776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148952490	chr12:8703787-8703788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183106210	chr12:8703803-8703804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186622715	chr12:8703819-8703820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144481397	chr12:8703947-8703948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201780342	chr12:8703952-8703953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386760107	chr12:8703953-8703954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7308405	chr12:8703955-8703956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77746677	chr12:8703957-8703958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191473197	chr12:8703990-8703991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571081066	chr12:8703994-8703995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145382041	chr12:8704030-8704031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147661800	chr12:8704093-8704094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11333013	chr12:8704138-8704139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397850315	chr12:8704139-8704140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114016862	chr12:8704184-8704185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142655895	chr12:8704307-8704308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146895040	chr12:8704311-8704312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184884295	chr12:8704320-8704321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576536283	chr12:8704350-8704351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565942732	chr12:8704353-8704354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10743424	chr12:8704358-8704359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs556101255	chr12:8704391-8704392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554286475	chr12:8704422-8704423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574170453	chr12:8704487-8704488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10770855	chr12:8704521-8704522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs7300755	chr12:8704687-8704688	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577070165	chr12:8704698-8704699	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546030699	chr12:8704757-8704758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116567648	chr12:8704758-8704759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148353820	chr12:8704786-8704787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562637837	chr12:8704787-8704788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11046175	chr12:8704807-8704808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367875224	chr12:8704813-8704814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188069330	chr12:8704885-8704886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140527273	chr12:8704887-8704888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150455947	chr12:8704936-8704937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8699000-8707000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:8703000-8703800	Enhancers	HUVEC	blood vessel
3	chr12:8703200-8707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:8703800-8707000	Weak transcription	HUVEC	blood vessel
5	chr12:8706800-8707600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:8707000-8707600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:8707000-8707600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:8707000-8707600	Enhancers	NHEK	skin
9	chr12:8707000-8707800	Enhancers	HUVEC	blood vessel
10	chr12:8707200-8707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:8707200-8707600	Enhancers	HMEC	breast
12	chr12:8707200-8707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:8707200-8707800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:8707200-8708000	Enhancers	HSMMtube	muscle
15	chr12:8707400-8707600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:8707400-8707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:8707400-8707600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:8707400-8707600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:8707400-8707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:8707600-8711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:8708200-8708400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:8708200-8708400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:8709800-8716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:8711800-8712000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:8711800-8712200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:8712000-8715800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:8712400-8712600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:8713000-8714400	Enhancers	Fetal Heart	heart
29	chr12:8713200-8713600	Enhancers	Fetal Intestine Small	intestine
30	chr12:8713600-8715200	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:8714000-8715000	Enhancers	Fetal Intestine Large	intestine
32	chr12:8715200-8715400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr12:8715200-8718400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:8715400-8715800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:8715600-8715800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:8715600-8717400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:8715800-8716000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:8715800-8716600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:8715800-8716600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:8715800-8716800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:8715800-8716800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:8715800-8717800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:8716000-8716200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:8716000-8716400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:8716000-8716600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:8716000-8717600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:8716200-8716600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:8716200-8716600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:8716200-8717200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:8716400-8717400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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