Variant report

Variant	esv3458275
Chromosome Location	chr2:128223577-128225946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:128225209-128225237	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:128223722-128223790	GM12878	blood:	n/a	n/a
3	USF1	chr2:128223715-128224033	ECC-1	luminal epithelium:	n/a	chr2:128223885-128223896
4	USF1	chr2:128223768-128223983	HepG2	liver:	n/a	chr2:128223885-128223896
5	USF1	chr2:128223700-128224072	K562	blood:	n/a	chr2:128223885-128223896

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:128221686..128223814-chr2:128225539..128227819,2	MCF-7	breast:
2	chr2:128223739..128227371-chr2:128227403..128230155,4	K562	blood:
3	chr2:128220774..128223723-chr2:128228116..128231015,2	K562	blood:
4	chr2:128221686..128223814-chr2:128225539..128227819,2	MCF-7	breast:
5	chr2:128223739..128227156-chr2:128228484..128231083,5	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
2	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3
3	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
4	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3
5	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
6	lnc-PROC-2	chr2:128225590-128225676	XLOC_001663
7	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
8	lnc-PROC-2	chr2:128225150-128225424	XLOC_001663
9	lnc-PROC-2	chr2:128225153-128225424	ENSG00000231731.2
10	lnc-PROC-2	chr2:128225249-128225424	ENSG00000231731.3
11	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.2
12	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3

No data

Variant related genes	Relation type
RNU4-48P	TF binding region
ENSG00000231731	TF binding region
ENSG00000202429	chromatin interactions
TMEM45A	miRNA target sites
TMEM55B	miRNA target sites

Extended variants
information (count: 91 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181067002	chr2:128223669-128223670	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144559666	chr2:128223704-128223705	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556983517	chr2:128223725-128223726	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375727720	chr2:128223745-128223746	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567597758	chr2:128223746-128223747	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187343048	chr2:128223751-128223752	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs17261845	chr2:128223757-128223758	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554727172	chr2:128223781-128223782	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12998300	chr2:128223795-128223796	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544834719	chr2:128223835-128223836	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7586672	chr2:128223875-128223876	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs577713235	chr2:128223876-128223877	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199683463	chr2:128223925-128223926	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75751730	chr2:128223957-128223958	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553781227	chr2:128223976-128223977	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377228983	chr2:128224022-128224023	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146629837	chr2:128224047-128224048	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141232292	chr2:128224048-128224049	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149763843	chr2:128224049-128224050	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559763717	chr2:128224050-128224051	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528695492	chr2:128224057-128224058	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551678417	chr2:128224129-128224130	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571404733	chr2:128224139-128224140	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530603891	chr2:128224151-128224152	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550620038	chr2:128224161-128224162	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567292168	chr2:128224179-128224180	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535836800	chr2:128224197-128224198	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553241068	chr2:128224210-128224211	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7599018	chr2:128224211-128224212	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538874831	chr2:128224217-128224218	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7599030	chr2:128224246-128224247	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577749929	chr2:128224250-128224251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543493184	chr2:128224334-128224335	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10194246	chr2:128224348-128224349	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17261852	chr2:128224355-128224356	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542617840	chr2:128224380-128224381	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371049960	chr2:128224393-128224394	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145761790	chr2:128224433-128224434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148943715	chr2:128224445-128224446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370012190	chr2:128224517-128224518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545615933	chr2:128224533-128224534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192071012	chr2:128224537-128224538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181456583	chr2:128224538-128224539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550711089	chr2:128224557-128224558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560924104	chr2:128224570-128224571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201565510	chr2:128224571-128224572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576052898	chr2:128224584-128224585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113293962	chr2:128224591-128224592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546276944	chr2:128224600-128224601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185748767	chr2:128224615-128224616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128204800-128225600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:128205400-128223600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:128205400-128223800	Weak transcription	Placenta	Placenta
4	chr2:128205800-128223600	Weak transcription	Thymus	Thymus
5	chr2:128205800-128223800	Weak transcription	Lung	lung
6	chr2:128206000-128224000	Weak transcription	Psoas Muscle	Psoas
7	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:128208800-128226000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:128209200-128223600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:128209200-128223600	Weak transcription	Aorta	Aorta
14	chr2:128209200-128225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:128209400-128223600	Weak transcription	Spleen	Spleen
17	chr2:128210000-128223600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:128210000-128226400	Weak transcription	Esophagus	oesophagus
19	chr2:128210000-128227200	Weak transcription	Left Ventricle	heart
20	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:128210600-128225200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:128211200-128225400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:128211200-128225600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:128211400-128226600	Weak transcription	Ovary	ovary
26	chr2:128211600-128226800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:128211600-128227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
29	chr2:128211800-128223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:128212200-128226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:128213000-128223800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:128213200-128225400	Weak transcription	Dnd41	blood
34	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
35	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:128213600-128225200	Weak transcription	A549	lung
37	chr2:128213600-128225400	Weak transcription	Pancreas	Pancrea
38	chr2:128213600-128226600	Weak transcription	Gastric	stomach
39	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
42	chr2:128215400-128225200	Weak transcription	Liver	Liver
43	chr2:128215400-128226800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:128216200-128233600	Weak transcription	GM12878-XiMat	blood
45	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
47	chr2:128221200-128224400	Enhancers	Fetal Intestine Large	intestine
48	chr2:128221400-128226600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:128221600-128224800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:128221600-128226600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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