Variant report

Variant	nsv899161
Chromosome Location	chr12:63275017-63311148
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:63278268..63280209-chr12:63326131..63327723,2	MCF-7	breast:
2	chr12:63306856..63308917-chr12:63326734..63330180,3	K562	blood:
3	chr12:63298668..63300990-chr12:63326822..63328965,2	MCF-7	breast:
4	chr12:63280556..63282421-chr12:63326654..63329622,2	MCF-7	breast:
5	chr12:63284474..63287928-chr12:63291672..63294715,4	MCF-7	breast:
6	chr12:63299073..63301932-chr12:63304667..63306675,2	K562	blood:
7	chr12:63292677..63295227-chr12:63307980..63310635,2	MCF-7	breast:
8	chr12:63300143..63303851-chr12:63306898..63309858,4	MCF-7	breast:
9	chr12:63303196..63305906-chr12:63305926..63307721,2	K562	blood:
10	chr12:63292677..63295227-chr12:63307980..63310635,2	MCF-7	breast:
11	chr12:63298026..63301472-chr12:63301744..63306217,4	K562	blood:
12	chr12:63307556..63310416-chr12:63316957..63319836,2	MCF-7	breast:
13	chr12:63277854..63280085-chr12:63280794..63282974,2	MCF-7	breast:
14	chr12:63302887..63305750-chr12:63328233..63330331,2	K562	blood:
15	chr12:63278653..63281020-chr12:63327180..63328937,2	MCF-7	breast:
16	chr12:63285182..63289284-chr12:63300308..63304182,3	K562	blood:
17	chr12:63293376..63296810-chr12:63296910..63300842,4	MCF-7	breast:
18	chr12:63277854..63280085-chr12:63280794..63282974,2	MCF-7	breast:
19	chr12:63262389..63265887-chr12:63279810..63282418,3	MCF-7	breast:
20	chr12:63300143..63303851-chr12:63306898..63309858,4	MCF-7	breast:
21	chr12:63291380..63293253-chr12:63327047..63329993,2	MCF-7	breast:
22	chr12:63299073..63301932-chr12:63304667..63306675,2	K562	blood:
23	chr12:63298722..63300428-chr12:63300794..63302294,2	MCF-7	breast:
24	chr12:63296377..63298625-chr12:63304984..63307375,2	MCF-7	breast:
25	chr12:63282634..63285463-chr12:63286553..63289663,4	MCF-7	breast:
26	chr12:63295774..63298533-chr12:63300102..63301857,2	K562	blood:
27	chr12:63298722..63300428-chr12:63300794..63302294,2	MCF-7	breast:
28	chr12:63293103..63295682-chr12:63297040..63300523,3	MCF-7	breast:
29	chr12:63275413..63276960-chr12:63307773..63310580,2	K562	blood:
30	chr12:63295243..63298533-chr12:63299392..63301650,3	K562	blood:
31	chr12:63307451..63310079-chr12:63319442..63322699,3	MCF-7	breast:
32	chr12:63262984..63265194-chr12:63280872..63282464,2	MCF-7	breast:
33	chr12:63273431..63275241-chr12:63290276..63292669,2	MCF-7	breast:
34	chr12:63273482..63276105-chr12:63324885..63326810,2	MCF-7	breast:
35	chr12:63311089..63313901-chr12:63317542..63319982,2	K562	blood:
36	chr12:63285383..63287251-chr12:63297837..63299598,2	MCF-7	breast:
37	chr12:63298026..63301472-chr12:63301744..63306217,4	K562	blood:
38	chr12:63285383..63287251-chr12:63297837..63299598,2	MCF-7	breast:
39	chr12:63284624..63286750-chr12:63293263..63294945,2	MCF-7	breast:
40	chr12:63295243..63298533-chr12:63299392..63301650,3	K562	blood:
41	chr12:63280356..63282421-chr12:63284387..63287315,2	K562	blood:
42	chr12:63280356..63282421-chr12:63284387..63287315,2	K562	blood:
43	chr12:63295774..63298533-chr12:63300102..63301857,2	K562	blood:
44	chr12:63303196..63305906-chr12:63305926..63307721,2	K562	blood:
45	chr12:63276390..63278023-chr12:63282262..63284033,2	K562	blood:
46	chr12:63303143..63306102-chr12:63308178..63311320,4	K562	blood:
47	chr12:63273431..63275241-chr12:63290276..63292669,2	MCF-7	breast:
48	chr12:63293376..63296810-chr12:63296910..63300842,4	MCF-7	breast:
49	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:
50	chr12:63303143..63306102-chr12:63308178..63311320,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252660	chromatin interactions
ENSG00000111110	chromatin interactions

Extended variants
information (count: 1326 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs771972	chr12:63275017-63275018	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540394950	chr12:63275023-63275024	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373397949	chr12:63275109-63275110	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560237445	chr12:63275149-63275150	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76644728	chr12:63275153-63275154	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549003637	chr12:63275163-63275164	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547669900	chr12:63275209-63275210	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560140149	chr12:63275211-63275212	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369591121	chr12:63275229-63275230	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540947690	chr12:63275243-63275244	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187707563	chr12:63275272-63275273	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569229460	chr12:63275286-63275287	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531557730	chr12:63275314-63275315	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550860334	chr12:63275333-63275334	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs771971	chr12:63275412-63275413	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539665862	chr12:63275436-63275437	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77195675	chr12:63275495-63275496	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192591243	chr12:63275504-63275505	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566605121	chr12:63275512-63275513	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552530924	chr12:63275519-63275520	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535535615	chr12:63275527-63275528	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2100173	chr12:63275540-63275541	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575199840	chr12:63275544-63275545	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370587450	chr12:63275577-63275578	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558443451	chr12:63275603-63275604	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs578168289	chr12:63275614-63275615	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540456549	chr12:63275634-63275635	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560301650	chr12:63275650-63275651	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73318222	chr12:63275685-63275686	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542713185	chr12:63275697-63275698	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184405207	chr12:63275705-63275706	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143381086	chr12:63275756-63275757	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs370355604	chr12:63275760-63275761	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551457735	chr12:63275842-63275843	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113374292	chr12:63275869-63275870	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533249199	chr12:63275895-63275896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546858105	chr12:63275920-63275921	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187468641	chr12:63275932-63275933	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535600265	chr12:63275950-63275951	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs193182839	chr12:63275968-63275969	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568826815	chr12:63276016-63276017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537872215	chr12:63276027-63276028	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557449754	chr12:63276145-63276146	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577955646	chr12:63276187-63276188	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140214231	chr12:63276188-63276189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115459731	chr12:63276190-63276191	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373979705	chr12:63276279-63276280	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555824069	chr12:63276298-63276299	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs60770244	chr12:63276306-63276307	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562682087	chr12:63276310-63276311	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
3	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:63262400-63275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:63262400-63277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:63262800-63276000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:63263400-63277200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:63267400-63277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:63270600-63275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63271200-63280600	Weak transcription	Left Ventricle	heart
14	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
15	chr12:63271600-63294400	Weak transcription	Ovary	ovary
16	chr12:63271800-63280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:63273200-63277800	Weak transcription	HepG2	liver
18	chr12:63274200-63275800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:63274400-63275800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:63274400-63276000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:63274600-63275600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:63274600-63281600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:63274800-63276200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:63274800-63280600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:63274800-63284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:63275000-63275400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:63275000-63275600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:63275000-63276400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr12:63275200-63275400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:63275200-63275600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:63275200-63275600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:63275400-63275600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:63275400-63276400	Enhancers	Pancreas	Pancrea
34	chr12:63275400-63287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:63275600-63276200	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:63275600-63277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:63275600-63278400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:63275600-63280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:63275800-63277600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:63275800-63278600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:63275800-63279200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:63276000-63276200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:63276000-63277200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:63276200-63276400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:63276200-63277000	Enhancers	GM12878-XiMat	blood
46	chr12:63276200-63277200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:63276400-63276800	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:63276400-63278600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:63276400-63286600	Weak transcription	Pancreas	Pancrea
50	chr12:63276800-63277800	Enhancers	Brain Hippocampus Middle	brain

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