Variant report

Variant	esv3374336
Chromosome Location	chr12:698191-701489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:700768-701529	K562	blood:	n/a	n/a
2	ATF1	chr12:700356-701564	K562	blood:	n/a	n/a
3	ATF3	chr12:700692-701107	K562	blood:	n/a	n/a
4	BACH1	chr12:700450-701053	K562	blood:	n/a	n/a
5	BHLHE40	chr12:700297-701536	K562	blood:	n/a	n/a
6	CBX3	chr12:700610-700991	K562	blood:	n/a	n/a
7	CBX3	chr12:700299-701530	K562	blood:	n/a	n/a
8	CCNT2	chr12:700527-701551	K562	blood:	n/a	chr12:700685-700694
9	CEBPB	chr12:700465-701099	K562	blood:	n/a	n/a
10	CEBPB	chr12:700379-701100	K562	blood:	n/a	n/a
11	CEBPD	chr12:700562-701556	K562	blood:	n/a	n/a
12	CEBPD	chr12:700318-701672	K562	blood:	n/a	n/a
13	CHD2	chr12:700699-700976	K562	blood:	n/a	n/a
14	CREB1	chr12:700450-701612	K562	blood:	n/a	chr12:701017-701030
15	CREB1	chr12:700482-701608	K562	blood:	n/a	chr12:701017-701030
16	CTCF	chr12:700540-700690	GM12871	blood:	n/a	n/a
17	CTCF	chr12:700320-700470	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr12:700280-700430	HMF	breast:	n/a	n/a
19	CTCF	chr12:700360-700510	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr12:700320-700470	GM12865	blood:	n/a	n/a
21	CTCF	chr12:700240-700390	A549	lung:	n/a	n/a
22	CTCF	chr12:700327-700401	HepG2	liver:	n/a	n/a
23	CTCF	chr12:700340-700490	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr12:700340-700490	HepG2	liver:	n/a	n/a
25	CTCF	chr12:700380-700530	HRE	kidney:	n/a	chr12:700505-700518
26	CTCF	chr12:700280-700430	GM12875	blood:	n/a	n/a
27	CTCF	chr12:700340-700490	HCM	heart:	n/a	n/a
28	CTCF	chr12:700320-700470	HVMF	connective:	n/a	n/a
29	CTCF	chr12:700280-700430	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr12:700320-700470	AG04450	lung:	n/a	n/a
31	CTCF	chr12:700460-700610	SAEC	small airway:	n/a	chr12:700505-700518
32	CTCF	chr12:700300-700450	GM12869	blood:	n/a	n/a
33	CTCF	chr12:700340-700490	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr12:700280-700430	GM12870	blood:	n/a	n/a
35	CTCF	chr12:700320-700470	GM06990	blood:	n/a	n/a
36	CTCF	chr12:700280-700430	GM12871	blood:	n/a	n/a
37	CTCF	chr12:700320-700470	GM12878	blood:	n/a	n/a
38	CTCF	chr12:700340-700490	GM12873	blood:	n/a	n/a
39	CTCF	chr12:699120-699270	NHEK	skin:	n/a	n/a
40	CTCF	chr12:700300-700450	NHEK	skin:	n/a	n/a
41	CTCF	chr12:700281-700586	K562	blood:	n/a	chr12:700505-700518
42	CTCF	chr12:700620-700770	BE2_C	brain:	n/a	n/a
43	CTCF	chr12:699380-699530	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr12:700340-700490	K562	blood:	n/a	n/a
45	CTCF	chr12:700340-700490	HEK293	kidney:	n/a	n/a
46	CTCF	chr12:701405-701482	K562	blood:	n/a	n/a
47	CTCF	chr12:699320-699470	HEK293	kidney:	n/a	n/a
48	CTCF	chr12:700381-700448	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:700260-700410	GM12867	blood:	n/a	n/a
50	CTCF	chr12:700340-700463	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:699443..701175-chr12:860085..862730,2	K562	blood:
2	chr12:698993..700663-chr12:750297..752796,2	K562	blood:
3	chr12:699762..702653-chr12:861563..863460,2	K562	blood:
4	chr12:693107..696400-chr12:699400..702911,3	K562	blood:
5	chr12:696407..698451-chr12:743928..745643,2	MCF-7	breast:
6	chr12:694949..697415-chr12:700314..702254,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALNT3-1	chr12:700187-700435	ENSG00000255825.1
2	lnc-B4GALNT3-1	chr12:699799-699938	ENSG00000255825.1

No data

Variant related genes	Relation type
RNU7-103P	TF binding region
ENSG00000256020	TF binding region
ENSG00000255825	TF binding region
ENSG00000256020	chromatin interactions
ENSG00000177406	chromatin interactions
ENSG00000060237	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527810198	chr12:698195-698196	Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs549143737	chr12:698262-698263	Weak transcription Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs148480594	chr12:698349-698350	Weak transcription Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs369851118	chr12:698351-698352	Weak transcription Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs373342013	chr12:698393-698394	Weak transcription Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs531473242	chr12:698417-698418	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs142636275	chr12:698419-698420	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs150979117	chr12:698438-698439	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs140815745	chr12:698502-698503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547125128	chr12:698510-698511	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs189935321	chr12:698521-698522	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs181141767	chr12:698587-698588	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs575869313	chr12:698628-698629	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs2535436	chr12:698634-698635	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs555965432	chr12:698688-698689	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs185360689	chr12:698706-698707	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs568113921	chr12:698744-698745	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs535747992	chr12:698763-698764	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs538497389	chr12:698786-698787	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs556883678	chr12:698826-698827	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs189672075	chr12:698833-698834	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs545363009	chr12:698853-698854	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs10774343	chr12:698879-698880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs144692923	chr12:698880-698881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542775587	chr12:698883-698884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533614133	chr12:698908-698909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117428056	chr12:698943-698944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549606199	chr12:699040-699041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373419192	chr12:699045-699046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571757902	chr12:699073-699074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532334715	chr12:699166-699167	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs146683552	chr12:699198-699199	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs386759371	chr12:699294-699295	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs79804437	chr12:699295-699296	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs548312292	chr12:699309-699310	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372373672	chr12:699321-699322	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs376623578	chr12:699322-699323	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs140237447	chr12:699331-699332	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs373432974	chr12:699414-699415	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs145241017	chr12:699427-699428	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs116919477	chr12:699430-699431	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs536291446	chr12:699440-699441	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs2607926	chr12:699444-699445	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs563100111	chr12:699505-699506	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs138975428	chr12:699548-699549	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs183567826	chr12:699578-699579	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs543067417	chr12:699682-699683	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs117726460	chr12:699683-699684	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs576178311	chr12:699770-699771	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs2607925	chr12:699791-699792	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:685800-700400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:686200-716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:686600-700400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:688800-700400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:689000-699600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:689200-700400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:692800-699400	Weak transcription	Pancreas	Pancrea
8	chr12:694000-699400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:694800-699400	Weak transcription	Spleen	Spleen
10	chr12:695600-699000	Weak transcription	Esophagus	oesophagus
11	chr12:695800-699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:695800-701000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:696600-715800	Weak transcription	Thymus	Thymus
14	chr12:696800-699400	Weak transcription	Psoas Muscle	Psoas
15	chr12:696800-700200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:696800-700600	Weak transcription	Liver	Liver
17	chr12:697000-699000	Weak transcription	Right Ventricle	heart
18	chr12:697200-698800	Weak transcription	Left Ventricle	heart
19	chr12:697400-698200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:697600-698200	Flanking Active TSS	Fetal Heart	heart
21	chr12:697800-698400	ZNF genes & repeats	K562	blood
22	chr12:698000-699600	Weak transcription	HepG2	liver
23	chr12:698000-702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:698200-698400	Enhancers	Brain Angular Gyrus	brain
25	chr12:698200-698400	Enhancers	Brain Substantia Nigra	brain
26	chr12:698200-700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:698200-701200	Enhancers	Fetal Heart	heart
28	chr12:698400-699000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:698400-699000	Weak transcription	Brain Substantia Nigra	brain
30	chr12:698400-699200	Weak transcription	K562	blood
31	chr12:698800-700200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:698800-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:698800-701600	Enhancers	Right Atrium	heart
34	chr12:698800-702000	Enhancers	Left Ventricle	heart
35	chr12:699000-699200	Enhancers	Brain Angular Gyrus	brain
36	chr12:699000-699200	Enhancers	Lung	lung
37	chr12:699000-699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:699000-699800	Enhancers	Right Ventricle	heart
39	chr12:699000-701400	Enhancers	Brain Substantia Nigra	brain
40	chr12:699000-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:699000-701600	Enhancers	Esophagus	oesophagus
42	chr12:699200-699400	Enhancers	NHEK	skin
43	chr12:699200-700200	Weak transcription	Brain Angular Gyrus	brain
44	chr12:699200-700400	Enhancers	K562	blood
45	chr12:699400-699600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr12:699400-699600	Enhancers	Psoas Muscle	Psoas
47	chr12:699400-699600	Enhancers	Spleen	Spleen
48	chr12:699400-700600	Weak transcription	NHEK	skin
49	chr12:699400-700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:699400-701400	Enhancers	Skeletal Muscle Male	skeletal muscle

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