Variant report

Variant	esv1802947
Chromosome Location	chr12:29194445-29197813
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29197257..29200417-chr12:29204358..29207773,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAR2-1	chr12:29194386-29194567	XLOC_009696
2	lnc-FAR2-1	chr12:29194801-29194941	XLOC_009696
3	lnc-FAR2-1	chr12:29195176-29195225	XLOC_009696
4	lnc-FAR2-1	chr12:29194801-29194941	XLOC_009696
5	lnc-FAR2-1	chr12:29194386-29194567	XLOC_009696
6	lnc-FAR2-1	chr12:29195176-29195231	XLOC_009696

No data

Extended variants
information (count: 115 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11049998	chr12:29194445-29194446	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545973111	chr12:29194454-29194455	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs189517520	chr12:29194458-29194459	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528279417	chr12:29194466-29194467	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs543769384	chr12:29194482-29194483	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566095239	chr12:29194585-29194586	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559441191	chr12:29194603-29194604	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146305579	chr12:29194639-29194640	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75514499	chr12:29194652-29194653	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369754483	chr12:29194672-29194673	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564006049	chr12:29194683-29194684	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558754593	chr12:29194687-29194688	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531149350	chr12:29194699-29194700	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139482458	chr12:29194739-29194740	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571012030	chr12:29194758-29194759	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144534745	chr12:29194803-29194804	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs535255682	chr12:29194853-29194854	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs367940943	chr12:29194855-29194856	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546685357	chr12:29194867-29194868	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs181537683	chr12:29194868-29194869	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568095501	chr12:29194887-29194888	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535405818	chr12:29194888-29194889	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs56823591	chr12:29194923-29194924	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115079677	chr12:29194953-29194954	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539313884	chr12:29194954-29194955	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557632844	chr12:29194992-29194993	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201771723	chr12:29195022-29195023	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398019036	chr12:29195025-29195026	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186005889	chr12:29195034-29195035	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529707742	chr12:29195048-29195049	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs719578	chr12:29195183-29195184	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537692919	chr12:29195215-29195216	Enhancers Flanking Active TSS Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs150699356	chr12:29195242-29195243	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559400465	chr12:29195266-29195267	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12821065	chr12:29195293-29195294	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574884043	chr12:29195351-29195352	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558973491	chr12:29195410-29195411	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571153476	chr12:29195413-29195414	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76329806	chr12:29195495-29195496	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191085451	chr12:29195538-29195539	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139967703	chr12:29195571-29195572	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552878897	chr12:29195586-29195587	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560272106	chr12:29195756-29195757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71042951	chr12:29195773-29195774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79666468	chr12:29195776-29195777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77205505	chr12:29195778-29195779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11049999	chr12:29195787-29195788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs528683541	chr12:29195801-29195802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181168347	chr12:29195812-29195813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568142871	chr12:29195813-29195814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29191400-29197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:29191600-29196000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:29191800-29194800	Enhancers	Fetal Intestine Large	intestine
4	chr12:29191800-29194800	Enhancers	Fetal Intestine Small	intestine
5	chr12:29191800-29197000	Enhancers	NHLF	lung
6	chr12:29192600-29194600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:29192600-29195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:29193200-29196000	Weak transcription	Fetal Stomach	stomach
9	chr12:29193800-29195000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:29194000-29195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:29194200-29194600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:29194200-29195400	Enhancers	HSMMtube	muscle
13	chr12:29194400-29194600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:29194400-29194600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:29194400-29194600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr12:29194400-29194600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:29194400-29194600	Flanking Active TSS	NH-A	brain
18	chr12:29194400-29194600	Flanking Active TSS	Osteobl	bone
19	chr12:29194400-29194800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:29194400-29194800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:29194400-29194800	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:29194400-29194800	Enhancers	HUVEC	blood vessel
23	chr12:29194400-29195000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:29194400-29195000	Enhancers	HMEC	breast
25	chr12:29194400-29195000	Enhancers	NHEK	skin
26	chr12:29194400-29195200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:29194400-29195200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:29194400-29195200	Enhancers	Fetal Kidney	kidney
29	chr12:29194400-29195200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr12:29194400-29195200	Enhancers	Hela-S3	cervix
31	chr12:29194400-29195600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:29194400-29195600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr12:29194400-29196400	Enhancers	HSMM	muscle
34	chr12:29194400-29197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:29194400-29198000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:29194600-29194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:29194600-29194800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:29194600-29194800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:29194600-29194800	Enhancers	Osteobl	bone
40	chr12:29194600-29195000	Active TSS	Duodenum Mucosa	Duodenum
41	chr12:29194600-29196200	Enhancers	NH-A	brain
42	chr12:29194800-29195200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:29194800-29195200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr12:29194800-29195200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr12:29194800-29195200	Flanking Active TSS	Osteobl	bone
46	chr12:29194800-29195400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:29194800-29195600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:29195000-29195200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:29195000-29195200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr12:29195000-29195200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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