Variant report

Variant	esv3502075
Chromosome Location	chr12:46160578-46175160
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46123687..46125328-chr12:46172888..46175299,2	K562	blood:
2	chr12:46166755..46169642-chr12:46247859..46249712,2	K562	blood:
3	chr12:46145686..46147552-chr12:46169816..46172547,2	K562	blood:
4	chr12:46171044..46173510-chr12:46175447..46178280,3	K562	blood:
5	chr12:46161724..46163829-chr12:46165085..46167700,2	K562	blood:
6	chr12:46122427..46125740-chr12:46165750..46168434,3	K562	blood:
7	chr12:46168951..46170529-chr12:46177515..46179157,2	K562	blood:
8	chr12:46121574..46124549-chr12:46159911..46161765,2	K562	blood:
9	chr12:46147919..46149431-chr12:46165409..46167229,2	K562	blood:
10	chr12:46118815..46121189-chr12:46174035..46176662,2	K562	blood:
11	chr12:46161724..46163829-chr12:46165085..46167700,2	K562	blood:
12	chr12:46122181..46123938-chr12:46171280..46173154,2	K562	blood:
13	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
14	chr12:46156363..46159128-chr12:46168846..46171397,2	K562	blood:
15	chr12:46120828..46123681-chr12:46169798..46173669,4	K562	blood:
16	chr12:46157277..46159128-chr12:46169493..46171397,2	K562	blood:
17	chr12:46172151..46174760-chr12:46183575..46186496,2	K562	blood:
18	chr12:46174845..46176940-chr12:46178634..46181295,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189079	chromatin interactions
ENSG00000273015	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571695226	chr12:46160586-46160587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185763422	chr12:46160588-46160589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190261283	chr12:46160602-46160603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149520695	chr12:46160608-46160609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144264703	chr12:46160698-46160699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370536870	chr12:46160701-46160702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566422933	chr12:46160708-46160709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7299778	chr12:46160802-46160803	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562374659	chr12:46160813-46160814	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375652128	chr12:46160821-46160822	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78149599	chr12:46160840-46160841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558698032	chr12:46160850-46160851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139144003	chr12:46160867-46160868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75374670	chr12:46160893-46160894	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541161696	chr12:46160930-46160931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142965423	chr12:46160945-46160946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555955613	chr12:46160993-46160994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574485170	chr12:46161006-46161007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559468714	chr12:46161011-46161012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541805281	chr12:46161129-46161130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34152049	chr12:46161132-46161133	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577756917	chr12:46161215-46161216	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567126617	chr12:46161245-46161246	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11183198	chr12:46161260-46161261	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181939247	chr12:46161261-46161262	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557070688	chr12:46161295-46161296	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7965783	chr12:46161304-46161305	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4768098	chr12:46161428-46161429	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139905495	chr12:46161472-46161473	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568969888	chr12:46161531-46161532	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187342788	chr12:46161614-46161615	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373416573	chr12:46161616-46161617	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566459864	chr12:46161660-46161661	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534081066	chr12:46161693-46161694	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558537033	chr12:46161696-46161697	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570645123	chr12:46161724-46161725	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113544400	chr12:46161748-46161749	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558157344	chr12:46161755-46161756	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182178429	chr12:46161778-46161779	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574575084	chr12:46161830-46161831	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541893077	chr12:46161886-46161887	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150703761	chr12:46161896-46161897	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573613194	chr12:46161897-46161898	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77783090	chr12:46161925-46161926	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551902952	chr12:46161956-46161957	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573424978	chr12:46161995-46161996	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75438844	chr12:46162005-46162006	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75788015	chr12:46162006-46162007	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565394158	chr12:46162134-46162135	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540933403	chr12:46162155-46162156	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
3	chr12:46127200-46161200	Weak transcription	HMEC	breast
4	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
5	chr12:46131200-46160800	Weak transcription	NHEK	skin
6	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:46132000-46205200	Weak transcription	HSMM	muscle
8	chr12:46132200-46165000	Weak transcription	Lung	lung
9	chr12:46137400-46160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:46137400-46163000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:46137400-46174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:46137600-46161800	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:46141000-46161800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:46142000-46168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:46142200-46161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46143600-46161400	Weak transcription	Thymus	Thymus
17	chr12:46145400-46167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:46146600-46161200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:46147000-46161200	Weak transcription	Left Ventricle	heart
20	chr12:46148200-46160800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:46148400-46168200	Weak transcription	Psoas Muscle	Psoas
22	chr12:46148600-46164000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:46149200-46162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
25	chr12:46150200-46162200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:46150600-46161200	Weak transcription	Fetal Thymus	thymus
27	chr12:46150600-46161400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:46150600-46162000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:46150600-46163600	Weak transcription	Fetal Stomach	stomach
30	chr12:46151200-46161200	Weak transcription	Right Ventricle	heart
31	chr12:46151200-46161200	Weak transcription	GM12878-XiMat	blood
32	chr12:46151200-46162200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:46151400-46162200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:46151400-46168800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:46151400-46169800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:46151600-46162600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:46152400-46160800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:46152600-46161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:46152600-46162000	Weak transcription	Primary B cells from cord blood	blood
40	chr12:46153800-46164400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:46156200-46161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:46156200-46162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:46156200-46165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:46156400-46160800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:46156400-46160800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:46156400-46161200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:46156400-46161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:46156400-46161400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:46156400-46161400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:46156400-46161600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links