Variant report

Variant	esv3333074
Chromosome Location	chr12:124005349-124007347
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:124004156..124006124-chr12:124006338..124008764,2	MCF-7	breast:
2	chr12:123944753..123946360-chr12:124004239..124006066,2	K562	blood:
3	chr12:124003058..124006753-chr12:124009013..124012498,5	MCF-7	breast:
4	chr12:124002890..124005569-chr12:124009063..124010830,3	MCF-7	breast:
5	chr12:124003899..124005845-chr12:124016075..124018818,3	MCF-7	breast:
6	chr12:123960921..123963126-chr12:124005515..124007518,2	K562	blood:
7	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
8	chr12:123848570..123850665-chr12:124003755..124005978,2	MCF-7	breast:
9	chr12:124006455..124008310-chr12:124016022..124017705,2	K562	blood:
10	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
11	chr12:124004156..124006124-chr12:124006338..124008764,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188026	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000139697	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572375932	chr12:124005390-124005391	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs546161319	chr12:124005421-124005422	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564472036	chr12:124005425-124005426	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531837600	chr12:124005439-124005440	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189591376	chr12:124005440-124005441	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543473226	chr12:124005450-124005451	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs138541268	chr12:124005463-124005464	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs13302918	chr12:124005475-124005476	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142673989	chr12:124005522-124005523	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146934874	chr12:124005599-124005600	Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114327008	chr12:124005632-124005633	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs61953538	chr12:124005708-124005709	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372024403	chr12:124005709-124005710	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570306469	chr12:124005730-124005731	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs137982727	chr12:124005768-124005769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374901722	chr12:124005787-124005788	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs71458804	chr12:124005821-124005822	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556257242	chr12:124005837-124005838	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs182245008	chr12:124005859-124005860	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536033541	chr12:124005895-124005896	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149478242	chr12:124005952-124005953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562846888	chr12:124005958-124005959	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572698416	chr12:124005988-124005989	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546136193	chr12:124006077-124006078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71959436	chr12:124006095-124006096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71088923	chr12:124006100-124006101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556964655	chr12:124006111-124006112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71088924	chr12:124006112-124006113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13303253	chr12:124006119-124006120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201530873	chr12:124006120-124006121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185288533	chr12:124006125-124006126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs200887473	chr12:124006128-124006129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536390976	chr12:124006129-124006130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13302919	chr12:124006132-124006133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373298667	chr12:124006144-124006145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199504420	chr12:124006145-124006146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13303196	chr12:124006155-124006156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190300101	chr12:124006159-124006160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13302952	chr12:124006164-124006165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377533138	chr12:124006176-124006177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188483277	chr12:124006177-124006178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545603670	chr12:124006185-124006186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576325926	chr12:124006186-124006187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193173576	chr12:124006190-124006191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183693414	chr12:124006197-124006198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543531812	chr12:124006198-124006199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561825549	chr12:124006199-124006200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529874557	chr12:124006201-124006202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187929961	chr12:124006203-124006204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191240321	chr12:124006206-124006207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
2	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
3	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123992600-124012800	Weak transcription	Thymus	Thymus
5	chr12:123993600-124011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123994400-124016200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:123994600-124016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123995200-124016400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:123995400-124009400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:123997800-124005600	Weak transcription	Fetal Brain Male	brain
11	chr12:123997800-124007600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:123998000-124006800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:123999200-124015800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:123999400-124016400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:124000200-124012400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:124000600-124006000	Strong transcription	K562	blood
17	chr12:124000600-124009200	Strong transcription	Liver	Liver
18	chr12:124000600-124009200	Strong transcription	Fetal Brain Female	brain
19	chr12:124000600-124009200	Strong transcription	Ovary	ovary
20	chr12:124000600-124009200	Strong transcription	Spleen	Spleen
21	chr12:124000600-124009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:124000600-124009400	Strong transcription	Adipose Nuclei	Adipose
23	chr12:124000600-124009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:124000600-124009800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:124000600-124011400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:124000600-124015000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:124000800-124005600	Genic enhancers	Placenta	Placenta
28	chr12:124000800-124005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:124000800-124009000	Strong transcription	Brain Germinal Matrix	brain
30	chr12:124001000-124007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:124001000-124009000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:124001000-124016400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:124001200-124009000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:124001200-124017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:124001400-124017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:124001600-124008200	Strong transcription	NHLF	lung
37	chr12:124002000-124016800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:124002200-124008000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:124002400-124007800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:124003000-124015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:124003200-124005600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:124003400-124005600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:124003400-124006000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:124003600-124005400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:124003800-124006000	Strong transcription	Primary T cells from cord blood	blood
46	chr12:124003800-124006000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr12:124003800-124007800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:124004000-124005600	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr12:124004000-124005800	Genic enhancers	Left Ventricle	heart
50	chr12:124004000-124008000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links