Variant report

Variant	esv3396848
Chromosome Location	chr12:51613598-51613870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51613735-51613746	ProgFib	skin:	n/a	n/a
2	POLR2A	chr12:51613763-51613815	ProgFib	skin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
2	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
3	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
4	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
5	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
6	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
7	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
8	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
POU6F1	TF binding region
ENSG00000110925	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000269339	chromatin interactions
ENSG00000183283	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78164357	chr12:51613631-51613632	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs533810394	chr12:51613634-51613635	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs370548195	chr12:51613643-51613644	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs554016914	chr12:51613650-51613651	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs112245623	chr12:51613671-51613672	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs201557272	chr12:51613672-51613673	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs575870391	chr12:51613674-51613675	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs113135856	chr12:51613677-51613678	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs34400708	chr12:51613682-51613683	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs138497193	chr12:51613687-51613688	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs72482234	chr12:51613689-51613690	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs577259290	chr12:51613696-51613697	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs200542601	chr12:51613700-51613701	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs149198149	chr12:51613709-51613710	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs10532866	chr12:51613710-51613711	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs141625712	chr12:51613711-51613712	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs34628101	chr12:51613716-51613717	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs539433061	chr12:51613719-51613720	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs36188464	chr12:51613720-51613721	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs117171831	chr12:51613726-51613727	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs33991337	chr12:51613732-51613733	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs199594835	chr12:51613737-51613738	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs71089777	chr12:51613738-51613739	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs376461662	chr12:51613739-51613740	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs576162606	chr12:51613742-51613743	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs541968651	chr12:51613743-51613744	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs561290258	chr12:51613752-51613753	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs61932928	chr12:51613755-51613756	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540500293	chr12:51613756-51613757	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs568628500	chr12:51613758-51613759	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs538553252	chr12:51613761-51613762	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs34228283	chr12:51613762-51613763	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs556879770	chr12:51613779-51613780	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs139251770	chr12:51613780-51613781	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs10532867	chr12:51613784-51613785	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs190274184	chr12:51613799-51613800	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs138519240	chr12:51613802-51613803	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs111880852	chr12:51613805-51613806	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs562546402	chr12:51613810-51613811	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs10591728	chr12:51613814-51613815	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs113723048	chr12:51613819-51613820	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs35667333	chr12:51613821-51613822	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs548675911	chr12:51613825-51613826	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs182348624	chr12:51613827-51613828	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs147530967	chr12:51613832-51613833	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs547318196	chr12:51613833-51613834	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs549300817	chr12:51613836-51613837	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs35714116	chr12:51613839-51613840	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549308951	chr12:51613840-51613841	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs539749912	chr12:51613843-51613844	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51612200-51613600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr12:51612200-51613600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:51612200-51613800	Flanking Active TSS	K562	blood
4	chr12:51612400-51613600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:51612600-51614000	Enhancers	Fetal Heart	heart
6	chr12:51612800-51613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:51612800-51613600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:51612800-51613600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:51612800-51613600	Enhancers	Liver	Liver
10	chr12:51612800-51613600	Enhancers	Stomach Mucosa	stomach
11	chr12:51612800-51613600	Flanking Active TSS	HepG2	liver
12	chr12:51612800-51613800	Enhancers	Fetal Kidney	kidney
13	chr12:51612800-51614000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:51612800-51614200	Enhancers	Fetal Brain Male	brain
15	chr12:51612800-51616200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:51612800-51619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:51612800-51621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:51612800-51622200	Weak transcription	Lung	lung
19	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:51613000-51613600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:51613000-51613600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:51613000-51613600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:51613000-51613600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:51613000-51613600	Enhancers	Fetal Intestine Small	intestine
25	chr12:51613000-51613600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:51613000-51613600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:51613000-51613800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:51613000-51613800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:51613000-51613800	Enhancers	A549	lung
30	chr12:51613000-51613800	Active TSS	GM12878-XiMat	blood
31	chr12:51613000-51614000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:51613000-51616000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51613000-51616200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:51613000-51616200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:51613000-51616200	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:51613000-51616200	Weak transcription	Gastric	stomach
37	chr12:51613000-51616200	Weak transcription	Ovary	ovary
38	chr12:51613000-51619000	Weak transcription	Fetal Brain Female	brain
39	chr12:51613000-51619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:51613000-51619200	Weak transcription	Brain Angular Gyrus	brain
41	chr12:51613000-51621200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:51613000-51621200	Weak transcription	Fetal Stomach	stomach
43	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:51613200-51613600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:51613200-51613600	Enhancers	Fetal Intestine Large	intestine
46	chr12:51613200-51613600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:51613200-51614000	Enhancers	Fetal Lung	lung
48	chr12:51613200-51618600	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:51613400-51613600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:51613400-51613600	Enhancers	HUES48 Cell Line	embryonic stem cell

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