Variant report

Variant	esv3434592
Chromosome Location	chr12:121431669-121435467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121432640-121432909	HepG2	liver:	n/a	n/a
2	BRCA1	chr12:121435175-121435329	Hela-S3	cervix:	n/a	n/a
3	CEBPZ	chr12:121433415-121433534	HepG2	liver:	n/a	n/a
4	HEY1	chr12:121432138-121432401	HepG2	liver:	n/a	n/a
5	JUN	chr12:121434737-121435003	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr12:121432467-121433023	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr12:121432543-121433007	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr12:121432492-121433023	A549	lung:	n/a	n/a
9	JUND	chr12:121432423-121433102	A549	lung:	n/a	n/a
10	JUND	chr12:121432830-121432841	K562	blood:	n/a	n/a
11	POLR2A	chr12:121433490-121434536	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:121434370-121434474	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:121433113-121433150	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:121435307-121435725	A549	lung:	n/a	n/a
15	POLR2A	chr12:121434108-121434233	A549	lung:	n/a	n/a
16	POLR2A	chr12:121434517-121434956	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr12:121433935-121434130	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:121433923-121434104	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:121433261-121433393	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:121433423-121433434	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:121432243-121432324	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:121433942-121433950	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:121435448-121435751	K562	blood:	n/a	n/a
24	POLR2A	chr12:121435323-121435780	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:121432806-121433062	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:121434015-121434679	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:121434989-121435773	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:121432922-121432975	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:121435241-121435603	A549	lung:	n/a	n/a
30	POLR2A	chr12:121430577-121435763	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:121433558-121433587	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:121432734-121432735	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:121435224-121435717	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:121430259-121432845	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:121432980-121433094	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:121434700-121435815	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:121433284-121433495	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:121432606-121432723	H1-hESC	embryonic stem cell:	n/a	n/a
39	RCOR1	chr12:121432660-121432918	K562	blood:	n/a	n/a
40	RFX5	chr12:121432673-121432695	K562	blood:	n/a	n/a
41	SP1	chr12:121432394-121433215	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr12:121432480-121433252	HCT-116	colon:	n/a	n/a
43	SP1	chr12:121432487-121433253	HCT-116	colon:	n/a	n/a
44	SP1	chr12:121432320-121433185	A549	lung:	n/a	n/a
45	SP1	chr12:121432439-121433091	GM12878	blood:	n/a	n/a
46	SP1	chr12:121432303-121433240	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr12:121432320-121433129	K562	blood:	n/a	n/a
48	SP1	chr12:121432509-121432987	GM12878	blood:	n/a	n/a
49	SP1	chr12:121432584-121432973	K562	blood:	n/a	n/a
50	SP1	chr12:121432227-121433261	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
2	chr12:121426408..121429065-chr12:121429959..121431966,2	MCF-7	breast:
3	chr12:121429573..121432216-chr12:121437752..121440846,3	K562	blood:

No data

Variant related genes	Relation type
HNF1A	TF binding region
ENSG00000271769	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546569418	chr12:121431719-121431720	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537024350	chr12:121431734-121431735	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559679010	chr12:121431811-121431812	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572969475	chr12:121431834-121431835	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528764213	chr12:121431886-121431887	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113304357	chr12:121431887-121431888	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375595183	chr12:121431895-121431896	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548447365	chr12:121431911-121431912	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200711098	chr12:121431950-121431951	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147630771	chr12:121431970-121431971	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193922602	chr12:121431984-121431985	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs193922603	chr12:121431987-121431988	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537628821	chr12:121432008-121432009	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs193922604	chr12:121432043-121432044	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193922605	chr12:121432056-121432057	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs137853238	chr12:121432068-121432069	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199890776	chr12:121432077-121432078	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs137853245	chr12:121432080-121432081	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570915522	chr12:121432114-121432115	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539507291	chr12:121432115-121432116	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs56348580	chr12:121432117-121432118	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs267603343	chr12:121432119-121432120	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs151256267	chr12:121432124-121432125	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs193922606	chr12:121432125-121432126	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555681479	chr12:121432154-121432155	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs267603344	chr12:121432194-121432195	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs193922607	chr12:121432207-121432208	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs137853240	chr12:121432208-121432209	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs202219857	chr12:121432231-121432232	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370617335	chr12:121432237-121432238	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373490995	chr12:121432245-121432246	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544395097	chr12:121432269-121432270	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs55783344	chr12:121432299-121432300	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1169302	chr12:121432302-121432303	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs539902924	chr12:121432351-121432352	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79482019	chr12:121432417-121432418	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369366805	chr12:121432425-121432426	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116634362	chr12:121432440-121432441	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528825787	chr12:121432446-121432447	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181822210	chr12:121432466-121432467	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562041020	chr12:121432485-121432486	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531051163	chr12:121432522-121432523	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551163150	chr12:121432529-121432530	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs570909155	chr12:121432548-121432549	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539941900	chr12:121432567-121432568	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553195314	chr12:121432584-121432585	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2264782	chr12:121432603-121432604	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566903967	chr12:121432613-121432614	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535829911	chr12:121432653-121432654	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148285095	chr12:121432667-121432668	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
3	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
5	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
6	chr12:121424400-121432800	Weak transcription	Stomach Mucosa	stomach
7	chr12:121425000-121432400	Weak transcription	A549	lung
8	chr12:121426200-121440200	Strong transcription	HepG2	liver
9	chr12:121426600-121434000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
11	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
12	chr12:121428800-121435000	Strong transcription	Liver	Liver
13	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121430000-121432200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:121431200-121435400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:121431200-121435800	Strong transcription	Gastric	stomach
18	chr12:121431200-121439200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr12:121431200-121440600	Weak transcription	Fetal Lung	lung
20	chr12:121431400-121435800	Strong transcription	Pancreas	Pancrea
21	chr12:121431600-121433400	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:121431600-121435600	Strong transcription	Colonic Mucosa	Colon
23	chr12:121431800-121432200	ZNF genes & repeats	Fetal Stomach	stomach
24	chr12:121432200-121433400	Weak transcription	Fetal Stomach	stomach
25	chr12:121432200-121433600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr12:121432400-121432600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121432400-121434600	Strong transcription	A549	lung
28	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:121432800-121433200	Strong transcription	Fetal Kidney	kidney
30	chr12:121432800-121433200	Strong transcription	Stomach Mucosa	stomach
31	chr12:121433200-121436600	Weak transcription	Stomach Mucosa	stomach
32	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
33	chr12:121433400-121435800	Strong transcription	Fetal Stomach	stomach
34	chr12:121433400-121437800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:121433600-121440600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:121433800-121437000	Weak transcription	Right Atrium	heart
37	chr12:121434000-121434200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:121434200-121434400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:121434200-121435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:121434600-121437600	Weak transcription	A549	lung
41	chr12:121435000-121438000	Genic enhancers	Liver	Liver
42	chr12:121435200-121435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:121435200-121435800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:121435400-121435600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:121435400-121435600	Enhancers	Fetal Thymus	thymus
46	chr12:121435400-121435600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr12:121435400-121435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:121435400-121437400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:121435400-121438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:121435400-121438800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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