Variant report

Variant	esv3493175
Chromosome Location	chr12:122342140-122344032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr12:122343626-122343943	T-47D	breast:	n/a	n/a
2	ESR1	chr12:122343693-122343938	T-47D	breast:	n/a	n/a
3	MAFF	chr12:122341975-122342158	HepG2	liver:	n/a	n/a
4	MAFK	chr12:122341957-122342197	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:122342587-122342842	K562	blood:	n/a	n/a
6	POLR2A	chr12:122343352-122343588	K562	blood:	n/a	n/a
7	POLR2A	chr12:122343929-122344165	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122340920..122343638-chr12:122354523..122357580,3	MCF-7	breast:
2	chr12:122343793..122346484-chr12:122354637..122356922,2	MCF-7	breast:
3	chr12:122341544..122343286-chr12:122459358..122461422,2	MCF-7	breast:
4	chr12:122325564..122327249-chr12:122341485..122344010,2	K562	blood:
5	chr12:122341924..122344518-chr12:122348746..122350833,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-170P	TF binding region
ENSG00000158023	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000256950	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536617050	chr12:122342143-122342144	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs369945066	chr12:122342171-122342172	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs79593796	chr12:122342183-122342184	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs61954312	chr12:122342185-122342186	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs550407817	chr12:122342234-122342235	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs548981413	chr12:122342240-122342241	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs567529126	chr12:122342250-122342251	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs534911174	chr12:122342255-122342256	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139433398	chr12:122342296-122342297	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577894350	chr12:122342308-122342309	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs540346351	chr12:122342324-122342325	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs554176620	chr12:122342395-122342396	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs557147205	chr12:122342434-122342435	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs575707468	chr12:122342436-122342437	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs184411516	chr12:122342453-122342454	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs571605172	chr12:122342512-122342513	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs371794929	chr12:122342545-122342546	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs201421345	chr12:122342546-122342547	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs368309608	chr12:122342569-122342570	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs71082909	chr12:122342580-122342581	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs199504181	chr12:122342581-122342582	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200591405	chr12:122342582-122342583	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201415243	chr12:122342583-122342584	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs199649222	chr12:122342584-122342585	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200533159	chr12:122342585-122342586	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs12817066	chr12:122342627-122342628	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572949123	chr12:122342631-122342632	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs546305989	chr12:122342663-122342664	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs540515939	chr12:122342686-122342687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs188104129	chr12:122342736-122342737	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs192719396	chr12:122342747-122342748	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs184167336	chr12:122342761-122342762	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs556223831	chr12:122342764-122342765	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs576251875	chr12:122342770-122342771	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs147954429	chr12:122342829-122342830	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs563205584	chr12:122342855-122342856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs7137218	chr12:122342877-122342878	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs562053710	chr12:122342888-122342889	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs199740288	chr12:122342933-122342934	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs7314056	chr12:122342964-122342965	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
41	rs140132913	chr12:122343094-122343095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs74703174	chr12:122343107-122343108	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs188909158	chr12:122343146-122343147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs368850291	chr12:122343205-122343206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs542045214	chr12:122343209-122343210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs534635848	chr12:122343219-122343220	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs181657693	chr12:122343228-122343229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs571587222	chr12:122343233-122343234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538419952	chr12:122343248-122343249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs2948665	chr12:122343260-122343261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	22495311	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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
2	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
3	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:122329800-122344600	Strong transcription	Primary T cells from cord blood	blood
6	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:122331600-122344200	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:122331800-122351800	Strong transcription	Dnd41	blood
13	chr12:122332000-122344400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:122332000-122350400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:122332000-122354600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:122332200-122344400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:122332200-122349600	Strong transcription	Fetal Brain Female	brain
19	chr12:122332200-122351000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:122332400-122344400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:122332400-122348000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:122332400-122349400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:122332400-122349400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:122332400-122350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:122332400-122350800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
28	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:122332600-122342200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:122332600-122344400	Strong transcription	Brain Anterior Caudate	brain
31	chr12:122332600-122344600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:122332600-122344800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:122332600-122346400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:122332600-122347800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:122332600-122349600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:122332600-122350800	Strong transcription	Placenta	Placenta
37	chr12:122332600-122352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122332600-122355400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:122332600-122355600	Strong transcription	Fetal Intestine Large	intestine
40	chr12:122332800-122344400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr12:122332800-122350000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:122332800-122350200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:122332800-122355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122332800-122355400	Strong transcription	Liver	Liver
45	chr12:122332800-122355600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:122333000-122344400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:122333000-122345000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:122333000-122345000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:122333000-122347800	Strong transcription	A549	lung
50	chr12:122333000-122350600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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