Variant report

Variant	esv3370569
Chromosome Location	chr12:123328549-123331347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123330139-123330169	NHEK	skin:	n/a	n/a
2	GABPA	chr12:123329802-123330229	H1-hESC	embryonic stem cell:	n/a	n/a
3	HMGN3	chr12:123329747-123329915	K562	blood:	n/a	n/a
4	MAX	chr12:123329940-123330249	H1-hESC	embryonic stem cell:	n/a	chr12:123330054-123330063
5	MAX	chr12:123329795-123330307	H1-hESC	embryonic stem cell:	n/a	chr12:123330054-123330063
6	MAX	chr12:123329816-123330320	H1-hESC	embryonic stem cell:	n/a	chr12:123330054-123330063
7	MXI1	chr12:123330811-123330840	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr12:123329980-123330157	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr12:123329966-123330135	H1-hESC	embryonic stem cell:	n/a	chr12:123330054-123330063
10	POLR2A	chr12:123330798-123330825	K562	blood:	n/a	n/a
11	POLR2A	chr12:123328888-123328908	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123330693-123330790	K562	blood:	n/a	n/a
13	POLR2A	chr12:123329484-123329586	K562	blood:	n/a	n/a
14	POLR2A	chr12:123329761-123330230	H1-neurons	neurons:	n/a	n/a
15	TEAD4	chr12:123329844-123330314	H1-hESC	embryonic stem cell:	n/a	n/a
16	TEAD4	chr12:123329853-123330244	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr12:123329156-123329324	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123328262..123330774-chr12:123333932..123336446,3	MCF-7	breast:
2	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
3	chr12:123329055..123330600-chr12:123330820..123333817,2	MCF-7	breast:
4	chr12:123331248..123334066-chr12:123346925..123349387,2	K562	blood:
5	chr12:123329055..123330600-chr12:123330820..123333817,2	MCF-7	breast:
6	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
7	chr12:123329996..123331775-chr12:123464843..123467149,2	K562	blood:
8	chr12:123327206..123329436-chr12:123341380..123343858,2	MCF-7	breast:
9	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIP1R	TF binding region
ENSG00000150967	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000182196	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376962415	chr12:123328551-123328552	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558041461	chr12:123328552-123328553	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533039780	chr12:123328591-123328592	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs55650312	chr12:123328666-123328667	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555086513	chr12:123328734-123328735	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139943458	chr12:123328742-123328743	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534395425	chr12:123328770-123328771	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370882407	chr12:123328825-123328826	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145434214	chr12:123328837-123328838	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545207746	chr12:123328855-123328856	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563961240	chr12:123328863-123328864	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575863046	chr12:123328953-123328954	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189649707	chr12:123328972-123328973	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61520028	chr12:123328974-123328975	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182289401	chr12:123329023-123329024	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76001867	chr12:123329025-123329026	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565385664	chr12:123329026-123329027	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117881955	chr12:123329086-123329087	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535596477	chr12:123329087-123329088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11060344	chr12:123329101-123329102	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188249712	chr12:123329111-123329112	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536933213	chr12:123329144-123329145	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7303024	chr12:123329189-123329190	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567150252	chr12:123329207-123329208	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534356804	chr12:123329228-123329229	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552610214	chr12:123329238-123329239	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368364030	chr12:123329239-123329240	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533984259	chr12:123329241-123329242	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371983382	chr12:123329243-123329244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192786198	chr12:123329253-123329254	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147701195	chr12:123329303-123329304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs58318955	chr12:123329337-123329338	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs118130428	chr12:123329388-123329389	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542947413	chr12:123329420-123329421	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185121684	chr12:123329429-123329430	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4759352	chr12:123329431-123329432	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4759351	chr12:123329439-123329440	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565348756	chr12:123329441-123329442	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532666035	chr12:123329445-123329446	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551091266	chr12:123329451-123329452	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556084728	chr12:123329496-123329497	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188392159	chr12:123329508-123329509	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548998252	chr12:123329532-123329533	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567232672	chr12:123329533-123329534	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534274562	chr12:123329547-123329548	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546211547	chr12:123329566-123329567	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371418207	chr12:123329619-123329620	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538324474	chr12:123329620-123329621	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141042331	chr12:123329648-123329649	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs897390	chr12:123329690-123329691	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Ependymoma	20639864	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321600-123332800	Weak transcription	Ovary	ovary
2	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
4	chr12:123322000-123332400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:123322400-123329000	Weak transcription	Thymus	Thymus
6	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:123322800-123329600	Weak transcription	Spleen	Spleen
8	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123322800-123339600	Weak transcription	Dnd41	blood
11	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:123323000-123330400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:123323800-123329200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:123323800-123331000	Enhancers	Stomach Mucosa	stomach
20	chr12:123324600-123330400	Enhancers	Right Atrium	heart
21	chr12:123324600-123330600	Enhancers	Left Ventricle	heart
22	chr12:123324600-123330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:123324800-123332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:123324800-123332200	Genic enhancers	Gastric	stomach
27	chr12:123324800-123332400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
29	chr12:123325000-123329400	Enhancers	Brain Angular Gyrus	brain
30	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:123325200-123329800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:123325400-123329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:123325400-123331400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:123325400-123332600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:123325600-123330000	Weak transcription	Fetal Thymus	thymus
37	chr12:123325800-123329800	Weak transcription	Colonic Mucosa	Colon
38	chr12:123325800-123331000	Enhancers	Fetal Heart	heart
39	chr12:123325800-123332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:123325800-123333000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:123326000-123329000	Enhancers	Pancreas	Pancrea
42	chr12:123326200-123331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123326400-123328600	Enhancers	Fetal Intestine Large	intestine
44	chr12:123326600-123328800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:123326600-123329200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:123326600-123335600	Weak transcription	NHLF	lung
47	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
48	chr12:123326600-123345000	Weak transcription	A549	lung
49	chr12:123326800-123329000	Weak transcription	NHEK	skin
50	chr12:123326800-123329400	Enhancers	Right Ventricle	heart

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