Variant report

Variant	esv3498764
Chromosome Location	chr12:124064319-124065410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:124064834-124064951	K562	blood:	n/a	n/a
2	CUX1	chr12:124064811-124065011	K562	blood:	n/a	n/a
3	EP300	chr12:124064820-124065035	K562	blood:	n/a	n/a
4	POLR2A	chr12:124064578-124064596	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:124065281-124065309	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:124064799-124065038	K562	blood:	n/a	n/a
7	POLR2A	chr12:124064344-124064423	K562	blood:	n/a	n/a
8	RCOR1	chr12:124064796-124065025	K562	blood:	n/a	n/a
9	SPI1	chr12:124064808-124065009	K562	blood:	n/a	n/a
10	TAL1	chr12:124064848-124064948	K562	blood:	n/a	n/a
11	ZNF384	chr12:124064662-124065097	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
2	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:
3	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
4	chr12:124063601..124065298-chr12:124067381..124068906,2	MCF-7	breast:
5	chr12:124057277..124059073-chr12:124064975..124067218,3	MCF-7	breast:
6	chr12:124061690..124064565-chr12:124067348..124070635,4	MCF-7	breast:

No data

Variant related genes	Relation type
TMED2	TF binding region
ENSG00000086598	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000247373	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562519997	chr12:124064331-124064332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374732924	chr12:124064370-124064371	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs149260700	chr12:124064418-124064419	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528550322	chr12:124064434-124064435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528422937	chr12:124064443-124064444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546811160	chr12:124064447-124064448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566325072	chr12:124064479-124064480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551856930	chr12:124064480-124064481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11312700	chr12:124064498-124064499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570204117	chr12:124064499-124064500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs398021476	chr12:124064512-124064513	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7954782	chr12:124064537-124064538	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs532225853	chr12:124064549-124064550	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs7957883	chr12:124064573-124064574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7968439	chr12:124064576-124064577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11829472	chr12:124064580-124064581	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548549909	chr12:124064630-124064631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376475006	chr12:124064638-124064639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534264500	chr12:124064658-124064659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558709693	chr12:124064663-124064664	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140638110	chr12:124064709-124064710	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191889988	chr12:124064756-124064757	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138551745	chr12:124064803-124064804	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536190101	chr12:124064804-124064805	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs398021477	chr12:124064823-124064824	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201337563	chr12:124064824-124064825	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556250408	chr12:124064839-124064840	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142230830	chr12:124064849-124064850	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7971779	chr12:124064918-124064919	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs151238609	chr12:124064919-124064920	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573079506	chr12:124064986-124064987	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7958153	chr12:124064998-124064999	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs184231283	chr12:124065071-124065072	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11837236	chr12:124065116-124065117	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs12312667	chr12:124065142-124065143	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376755519	chr12:124065143-124065144	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35064645	chr12:124065152-124065153	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs548159636	chr12:124065170-124065171	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376479979	chr12:124065184-124065185	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150416099	chr12:124065185-124065186	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190125348	chr12:124065199-124065200	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552472694	chr12:124065212-124065213	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570672448	chr12:124065222-124065223	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112939227	chr12:124065235-124065236	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556386133	chr12:124065240-124065241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574867002	chr12:124065248-124065249	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181726655	chr12:124065273-124065274	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370967557	chr12:124065327-124065328	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554117252	chr12:124065329-124065330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572372579	chr12:124065356-124065357	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124055000-124065000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:124055000-124067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124055200-124068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:124055400-124067800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124056000-124066600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:124056000-124066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:124056000-124067000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:124056000-124067800	Weak transcription	Lung	lung
9	chr12:124056200-124064800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:124056200-124065000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:124056200-124066600	Weak transcription	Thymus	Thymus
12	chr12:124056200-124067000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:124056200-124067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:124056400-124065200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:124056400-124065400	Weak transcription	Osteobl	bone
16	chr12:124056400-124066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:124056400-124066600	Weak transcription	Adipose Nuclei	Adipose
18	chr12:124056400-124066600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:124056400-124066600	Weak transcription	K562	blood
20	chr12:124056400-124066800	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:124056400-124066800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:124056400-124067000	Weak transcription	NHDF-Ad	bronchial
23	chr12:124056400-124067400	Weak transcription	HSMMtube	muscle
24	chr12:124056800-124066600	Weak transcription	Dnd41	blood
25	chr12:124058800-124066600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:124058800-124067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:124059200-124066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:124059200-124066800	Weak transcription	Spleen	Spleen
29	chr12:124059200-124067200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:124059400-124066600	Weak transcription	Liver	Liver
31	chr12:124059400-124067000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:124059400-124067200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:124059800-124066600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:124059800-124066800	Weak transcription	Fetal Kidney	kidney
35	chr12:124060000-124066800	Weak transcription	Ovary	ovary
36	chr12:124060000-124067000	Weak transcription	NHLF	lung
37	chr12:124060400-124066000	Weak transcription	Primary B cells from cord blood	blood
38	chr12:124060400-124066600	Weak transcription	HSMM	muscle
39	chr12:124060400-124066800	Weak transcription	Gastric	stomach
40	chr12:124060600-124066800	Weak transcription	GM12878-XiMat	blood
41	chr12:124061000-124064400	Strong transcription	Fetal Stomach	stomach
42	chr12:124061000-124066000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:124061000-124066600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:124061000-124066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:124061000-124066800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:124061000-124067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:124061200-124066800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:124061200-124067000	Weak transcription	Fetal Lung	lung
49	chr12:124061200-124067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:124061400-124066600	Weak transcription	Fetal Thymus	thymus

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