Variant report

Variant	esv15782
Chromosome Location	chr2:20645569-20646079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:20645995-20647064	A549	lung:	n/a	chr2:20646612-20646625 chr2:20646174-20646183
2	CHD1	chr2:20645950-20651592	IMR90	lung:	n/a	n/a
3	HCFC1	chr2:20645912-20651140	Hela-S3	cervix:	n/a	n/a
4	HEY1	chr2:20645541-20650862	HepG2	liver:	n/a	chr2:20646608-20646623
5	MAX	chr2:20646048-20648294	A549	lung:	n/a	chr2:20646693-20646703
6	MAZ	chr2:20646022-20649127	IMR90	lung:	n/a	chr2:20646693-20646703
7	POLR2A	chr2:20646061-20651465	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:20646012-20646260	HCT-116	colon:	n/a	n/a
9	POLR2A	chr2:20645989-20652401	IMR90	lung:	n/a	n/a
10	POLR2A	chr2:20645433-20645628	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:20645467-20645577	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:20645370-20646215	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr2:20645918-20651649	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr2:20645976-20650968	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:20645961-20646326	HCT-116	colon:	n/a	n/a
16	POLR2A	chr2:20645826-20652982	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr2:20645938-20651588	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:20645973-20651501	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:20645948-20651806	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr2:20646006-20652601	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:20645058-20645671	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:20645055-20645828	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr2:20645847-20645861	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr2:20646043-20652533	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr2:20645955-20650956	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:20645960-20646224	HUVEC	blood vessel:	n/a	n/a
27	REST	chr2:20645943-20648189	H1-neurons	neurons:	n/a	chr2:20646622-20646640 chr2:20646684-20646697 chr2:20646625-20646638
28	RFX5	chr2:20645844-20651474	SK-N-SH	brain:	n/a	chr2:20646718-20646727
29	RUNX3	chr2:20646024-20647695	GM12878	blood:	n/a	n/a
30	TCF12	chr2:20645888-20648991	A549	lung:	n/a	chr2:20646117-20646124
31	USF1	chr2:20645605-20645993	A549	lung:	n/a	n/a
32	ZBTB7A	chr2:20646057-20647475	ECC-1	luminal epithelium:	n/a	chr2:20646810-20646819

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
2	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
3	chr2:20645492..20647330-chr7:139044300..139046201,2	MCF-7	breast:
4	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
5	chr2:20645423..20650748-chr2:20698837..20705480,9	MCF-7	breast:
6	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
7	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
8	chr2:20645830..20649178-chr2:20802657..20807893,7	MCF-7	breast:
9	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
10	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:
11	chr16:68268541..68270954-chr2:20645662..20648627,2	MCF-7	breast:
12	chr2:20646044..20646619-chr6:13328688..13329216,2	HCT-116	colon:
13	chr2:20645526..20651779-chr2:20782666..20787622,12	MCF-7	breast:
14	chr2:20645482..20647454-chr9:137444146..137446326,2	MCF-7	breast:
15	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:

No data

Variant related genes	Relation type
RHOB	TF binding region
ENSG00000228950	TF binding region
ENSG00000146963	chromatin interactions
ENSG00000233416	chromatin interactions
ENSG00000227047	chromatin interactions
ENSG00000252216	chromatin interactions
ENSG00000231948	chromatin interactions
ENSG00000227150	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000269976	chromatin interactions
ENSG00000103067	chromatin interactions
ENSG00000145979	chromatin interactions
ENSG00000212171	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000273391	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189104655	chr2:20645653-20645654	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs200049662	chr2:20645665-20645666	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs2924378	chr2:20645666-20645667	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs542458725	chr2:20645675-20645676	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs539678615	chr2:20645678-20645679	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs12464017	chr2:20645733-20645734	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs368480490	chr2:20645759-20645760	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs12464019	chr2:20645767-20645768	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs371981973	chr2:20645781-20645782	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs533029908	chr2:20645804-20645805	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs192767374	chr2:20645829-20645830	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs12464055	chr2:20645835-20645836	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs528350877	chr2:20645848-20645849	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs61653062	chr2:20645849-20645850	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs528016719	chr2:20645850-20645851	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs184627698	chr2:20645854-20645855	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs368345210	chr2:20645881-20645882	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs564152431	chr2:20645882-20645883	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs35540649	chr2:20645911-20645912	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs11889962	chr2:20645915-20645916	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112475939	chr2:20645918-20645919	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs549320579	chr2:20645926-20645927	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs569436447	chr2:20645932-20645933	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs548854550	chr2:20645949-20645950	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs528938120	chr2:20645952-20645953	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs548792378	chr2:20645971-20645972	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs565730707	chr2:20646030-20646031	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs534958071	chr2:20646035-20646036	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs145159244	chr2:20646067-20646068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs181457274	chr2:20646070-20646071	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20639400-20646000	Weak transcription	HSMMtube	muscle
3	chr2:20639600-20646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:20639600-20646000	Weak transcription	Gastric	stomach
5	chr2:20639600-20646200	Weak transcription	HMEC	breast
6	chr2:20642000-20646200	Weak transcription	K562	blood
7	chr2:20643200-20646200	Enhancers	NHDF-Ad	bronchial
8	chr2:20643400-20646000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:20643400-20646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:20643400-20646000	Enhancers	Fetal Brain Male	brain
11	chr2:20643400-20646000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:20643400-20646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:20643600-20645600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:20643600-20646000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:20643600-20646000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:20643600-20646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:20643600-20650000	Active TSS	Right Atrium	heart
18	chr2:20643800-20646000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:20644000-20646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:20644000-20646200	Weak transcription	Fetal Lung	lung
21	chr2:20644200-20646000	Weak transcription	NH-A	brain
22	chr2:20644400-20645600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:20644400-20645600	Flanking Active TSS	Liver	Liver
24	chr2:20644400-20645600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:20644400-20645600	Flanking Active TSS	Hela-S3	cervix
26	chr2:20644400-20646000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:20644400-20646000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:20644400-20646000	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:20644400-20646000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:20644400-20646000	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:20644400-20646000	Enhancers	Placenta	Placenta
32	chr2:20644400-20646000	Enhancers	Pancreas	Pancrea
33	chr2:20644400-20646200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:20644400-20646400	Flanking Active TSS	HUVEC	blood vessel
35	chr2:20644600-20645600	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr2:20644600-20646000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:20644600-20646000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:20644600-20646000	Weak transcription	Fetal Brain Female	brain
39	chr2:20644600-20646000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:20644600-20646000	Weak transcription	HSMM	muscle
41	chr2:20644600-20646000	Weak transcription	NHLF	lung
42	chr2:20644600-20646200	Weak transcription	Fetal Kidney	kidney
43	chr2:20644600-20646200	Weak transcription	Small Intestine	intestine
44	chr2:20644600-20647000	Active TSS	Right Ventricle	heart
45	chr2:20644600-20650000	Active TSS	Psoas Muscle	Psoas
46	chr2:20644800-20645600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr2:20644800-20645600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:20644800-20645600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr2:20644800-20646000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:20644800-20646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links