Variant report

Variant	esv3481696
Chromosome Location	chr12:699732-700285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:700280-700430	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr12:700220-700370	BE2_C	brain:	n/a	n/a
3	CTCF	chr12:700280-700430	GM12874	blood:	n/a	n/a
4	CTCF	chr12:700240-700390	A549	lung:	n/a	n/a
5	CTCF	chr12:700280-700430	GM12871	blood:	n/a	n/a
6	CTCF	chr12:700262-700977	K562	blood:	n/a	chr12:700505-700518
7	CTCF	chr12:700260-700410	NB4	blood:	n/a	n/a
8	CTCF	chr12:700280-700430	GM12864	blood:	n/a	n/a
9	CTCF	chr12:700281-700586	K562	blood:	n/a	chr12:700505-700518
10	CTCF	chr12:700280-700430	GM12865	blood:	n/a	n/a
11	CTCF	chr12:700280-700430	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr12:700260-700410	GM12867	blood:	n/a	n/a
13	CTCF	chr12:700280-700430	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr12:700280-700430	GM12870	blood:	n/a	n/a
15	CTCF	chr12:700280-700430	HMF	breast:	n/a	n/a
16	CTCF	chr12:700280-700430	GM12875	blood:	n/a	n/a
17	CTCF	chr12:700260-700410	GM12872	blood:	n/a	n/a
18	EP300	chr12:700106-701660	SK-N-SH	brain:	n/a	chr12:701099-701112
19	GATA1	chr12:700163-701738	PBDE	blood:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
20	IRF4	chr12:699837-700247	GM12878	blood:	n/a	n/a
21	MAFF	chr12:700230-700983	K562	blood:	n/a	chr12:700651-700669
22	MAFK	chr12:699513-699790	HepG2	liver:	n/a	n/a
23	MAFK	chr12:699302-699789	HepG2	liver:	n/a	n/a
24	MAX	chr12:700235-701089	K562	blood:	n/a	chr12:700599-700608
25	MYC	chr12:700274-700996	NB4	blood:	n/a	chr12:700599-700608
26	POLR2A	chr12:699175-701682	PBDE	blood:	n/a	n/a
27	RAD21	chr12:700256-700524	HepG2	liver:	n/a	n/a
28	RAD21	chr12:700254-700490	K562	blood:	n/a	n/a
29	RCOR1	chr12:700245-701543	K562	blood:	n/a	n/a
30	SMC3	chr12:700261-700501	HepG2	liver:	n/a	n/a
31	SP1	chr12:699826-700267	HepG2	liver:	n/a	n/a
32	USF1	chr12:700203-700484	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr12:700199-700561	K562	blood:	n/a	n/a
34	USF1	chr12:700269-700487	SK-N-SH_RA	brain:	n/a	n/a
35	USF1	chr12:700284-700463	HepG2	liver:	n/a	n/a
36	USF1	chr12:700202-700477	K562	blood:	n/a	n/a
37	USF1	chr12:700254-700507	SK-N-SH_RA	brain:	n/a	n/a
38	USF1	chr12:700207-700562	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF1	chr12:700238-700500	HepG2	liver:	n/a	n/a
40	USF2	chr12:700268-700476	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF2	chr12:700271-700517	HepG2	liver:	n/a	n/a
42	ZBTB33	chr12:699769-700179	GM12878	blood:	n/a	n/a
43	ZBTB33	chr12:699759-700257	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:693107..696400-chr12:699400..702911,3	K562	blood:
2	chr12:699762..702653-chr12:861563..863460,2	K562	blood:
3	chr12:699443..701175-chr12:860085..862730,2	K562	blood:
4	chr12:698993..700663-chr12:750297..752796,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576178311	chr12:699770-699771	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs2607925	chr12:699791-699792	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186382494	chr12:699818-699819	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs111542409	chr12:699867-699868	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs55721395	chr12:699878-699879	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs532404073	chr12:699881-699882	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs540992924	chr12:699882-699883	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs113235363	chr12:699912-699913	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs56125731	chr12:699916-699917	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs75083366	chr12:699929-699930	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs77634207	chr12:699943-699944	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs75477748	chr12:699974-699975	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs370941417	chr12:700011-700012	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs559258147	chr12:700070-700071	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs56025118	chr12:700101-700102	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs12146777	chr12:700129-700130	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs12146803	chr12:700130-700131	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374618530	chr12:700135-700136	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs2925845	chr12:700222-700223	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs7972823	chr12:700235-700236	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs7972911	chr12:700239-700240	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs143779594	chr12:700244-700245	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	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:47 , 50 per page) page: 1

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	chr12:689200-700400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:695800-701000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:696600-715800	Weak transcription	Thymus	Thymus
8	chr12:696800-700200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:696800-700600	Weak transcription	Liver	Liver
10	chr12:698000-702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:698200-700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:698200-701200	Enhancers	Fetal Heart	heart
13	chr12:698800-700200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:698800-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:698800-701600	Enhancers	Right Atrium	heart
16	chr12:698800-702000	Enhancers	Left Ventricle	heart
17	chr12:699000-699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:699000-699800	Enhancers	Right Ventricle	heart
19	chr12:699000-701400	Enhancers	Brain Substantia Nigra	brain
20	chr12:699000-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:699000-701600	Enhancers	Esophagus	oesophagus
22	chr12:699200-700200	Weak transcription	Brain Angular Gyrus	brain
23	chr12:699200-700400	Enhancers	K562	blood
24	chr12:699400-700600	Weak transcription	NHEK	skin
25	chr12:699400-700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:699400-701400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:699400-701400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:699400-701800	Enhancers	Pancreas	Pancrea
29	chr12:699600-699800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:699600-700400	Weak transcription	Psoas Muscle	Psoas
31	chr12:699600-700400	Weak transcription	Spleen	Spleen
32	chr12:699600-700400	Enhancers	HepG2	liver
33	chr12:699600-701600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:699600-701600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:699600-701800	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:699600-702200	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:699800-700200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:699800-700200	Weak transcription	Right Ventricle	heart
39	chr12:700200-701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:700200-701400	Enhancers	Brain Angular Gyrus	brain
41	chr12:700200-701400	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:700200-701400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr12:700200-701600	Enhancers	Right Ventricle	heart
44	chr12:700200-701600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:700200-701800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:700200-702000	Enhancers	Placenta	Placenta
47	chr12:700200-703200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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