Variant report

Variant	esv1821299
Chromosome Location	chr12:50973897-51002088
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:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:50984762..50986621-chr12:50989741..50991537,2	K562	blood:
2	chr12:50980791..50982849-chr12:50991599..50993563,2	K562	blood:
3	chr12:50974097..50976860-chr12:51155046..51157594,2	MCF-7	breast:
4	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:
5	chr12:50958807..50961087-chr12:50974320..50976145,2	K562	blood:
6	chr12:50990408..50992631-chr12:51008278..51009960,2	K562	blood:
7	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
8	chr12:50977912..50980011-chr12:50981947..50983773,4	K562	blood:
9	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
10	chr12:50974887..50977469-chr12:51012857..51015766,3	MCF-7	breast:
11	chr12:50980791..50982849-chr12:50991599..50993563,2	K562	blood:
12	chr12:50898995..50900548-chr12:50993141..50995760,2	MCF-7	breast:
13	chr12:50976913..50978779-chr12:50979212..50980954,2	K562	blood:
14	chr12:50997294..51000239-chr12:51002397..51006149,4	K562	blood:
15	chr12:50984035..50986586-chr12:50986718..50989992,3	MCF-7	breast:
16	chr12:50896574..50899072-chr12:50989675..50992643,3	K562	blood:
17	chr12:50965666..50967563-chr12:50973040..50975436,2	K562	blood:
18	chr12:50926684..50928595-chr12:50975445..50977856,2	MCF-7	breast:
19	chr12:50973996..50977053-chr12:50977194..50979673,3	MCF-7	breast:
20	chr12:50984662..50986250-chr12:50994111..50996016,2	MCF-7	breast:
21	chr12:50919251..50921219-chr12:50974767..50977013,2	MCF-7	breast:
22	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:
23	chr12:50964684..50966420-chr12:50974065..50976382,2	MCF-7	breast:
24	chr12:50975463..50977998-chr12:50988989..50993005,3	K562	blood:
25	chr12:50979886..50981797-chr12:50988399..50990199,2	MCF-7	breast:
26	chr12:50984662..50986250-chr12:50994111..50996016,2	MCF-7	breast:
27	chr12:50993262..50995250-chr12:51001088..51003468,2	K562	blood:
28	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
29	chr12:50977211..50979988-chr12:50984620..50986516,3	MCF-7	breast:
30	chr12:50997294..51000359-chr12:51002397..51006149,5	K562	blood:
31	chr12:50976913..50978779-chr12:50979212..50980954,2	K562	blood:
32	chr12:50984035..50986586-chr12:50986718..50989992,3	MCF-7	breast:
33	chr12:50897706..50899944-chr12:50973208..50975379,4	MCF-7	breast:
34	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:
35	chr12:50987041..50990767-chr12:51006413..51009565,3	K562	blood:
36	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
37	chr12:50898869..50900913-chr12:51001048..51003309,2	MCF-7	breast:
38	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
39	chr12:50944577..50947139-chr12:50993451..50996143,2	MCF-7	breast:
40	chr12:50972721..50975005-chr12:51156216..51157779,2	MCF-7	breast:
41	chr12:50994951..50996590-chr12:51012616..51015184,2	MCF-7	breast:
42	chr12:50960547..50963212-chr12:50977507..50979558,2	K562	blood:
43	chr12:50923041..50925350-chr12:50976713..50978567,2	MCF-7	breast:
44	chr12:50993262..50995250-chr12:51001088..51003468,2	K562	blood:
45	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:
46	chr12:50981889..50983503-chr12:51007729..51009929,2	K562	blood:
47	chr12:50955842..50957766-chr12:50991073..50993827,2	K562	blood:
48	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
49	chr12:50990321..50993026-chr12:51018006..51020008,2	K562	blood:
50	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	chromatin interactions
ENSG00000066084	chromatin interactions

Extended variants
information (count: 958 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10459233	chr12:50973897-50973898	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370703705	chr12:50974013-50974014	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138506647	chr12:50974025-50974026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146073968	chr12:50974064-50974065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545913220	chr12:50974068-50974069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375349000	chr12:50974081-50974082	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148742660	chr12:50974102-50974103	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376492809	chr12:50974147-50974148	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542120895	chr12:50974196-50974197	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370753878	chr12:50974281-50974282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35098719	chr12:50974321-50974322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs398019522	chr12:50974336-50974337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372279714	chr12:50974337-50974338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34867510	chr12:50974541-50974542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554244930	chr12:50974562-50974563	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527897046	chr12:50974581-50974582	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547440842	chr12:50974614-50974615	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564052695	chr12:50974630-50974631	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192074515	chr12:50974683-50974684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569444750	chr12:50974751-50974752	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536746916	chr12:50974760-50974761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549842909	chr12:50974844-50974845	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77560600	chr12:50974896-50974897	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12304266	chr12:50974953-50974954	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72644878	chr12:50974983-50974984	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184836609	chr12:50975044-50975045	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556650418	chr12:50975164-50975165	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77010202	chr12:50975206-50975207	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554225537	chr12:50975238-50975239	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577776269	chr12:50975287-50975288	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372629204	chr12:50975305-50975306	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376024513	chr12:50975309-50975310	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577310848	chr12:50975350-50975351	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs58727108	chr12:50975357-50975358	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368619181	chr12:50975367-50975368	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539821183	chr12:50975381-50975382	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189088569	chr12:50975432-50975433	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193005354	chr12:50975507-50975508	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199978182	chr12:50975516-50975517	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74775761	chr12:50975525-50975526	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555663729	chr12:50975603-50975604	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572577471	chr12:50975622-50975623	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544131037	chr12:50975682-50975683	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34123370	chr12:50975696-50975697	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541296936	chr12:50975705-50975706	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545311490	chr12:50975710-50975711	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184566614	chr12:50975746-50975747	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79382803	chr12:50975765-50975766	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543543877	chr12:50975766-50975767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547449382	chr12:50975774-50975775	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Multiple myeloma	16616336	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
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:50966800-50975600	Weak transcription	HSMM	muscle
4	chr12:50967200-50978400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
8	chr12:50968400-50976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:50968800-50974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:50968800-50974800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
13	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:50969200-50974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:50969400-50974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:50969400-50974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:50969400-50974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:50969400-50975400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:50969400-50975400	Weak transcription	HMEC	breast
23	chr12:50969400-50983400	Weak transcription	NHLF	lung
24	chr12:50969600-50974600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:50969600-50974600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:50969600-50974600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:50969600-50974800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:50969600-50975000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:50969600-50975200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:50969600-50975400	Weak transcription	Lung	lung
31	chr12:50969600-50976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50969600-50978200	Weak transcription	Fetal Kidney	kidney
33	chr12:50969600-50978400	Weak transcription	Fetal Stomach	stomach
34	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
36	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
37	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:50969800-50974800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:50969800-50975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:50969800-50975600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:50972600-50974000	Enhancers	Fetal Heart	heart
44	chr12:50972600-50975600	Enhancers	Brain Angular Gyrus	brain
45	chr12:50972600-50976000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:50972600-50978200	Enhancers	Brain Substantia Nigra	brain
47	chr12:50972800-50974000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:50972800-50974800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:50972800-50975000	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:50972800-50975000	Enhancers	NHEK	skin

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