Variant report

Variant	esv1830620
Chromosome Location	chr2:98152772-98166928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:98158810-98158993	GM12878	blood:	n/a	n/a
2	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
3	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
5	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:98158391-98158472	GM13976	blood:	n/a	n/a
10	CTCF	chr2:98159687-98159697	LNCaP	prostate:	n/a	n/a
11	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
12	CTCF	chr2:98155511-98155562	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr2:98158929-98158970	GM13976	blood:	n/a	n/a
14	CTCF	chr2:98164271-98164310	GM20000	blood:	n/a	n/a
15	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
16	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
17	FOS	chr2:98163202-98163548	HUVEC	blood vessel:	n/a	chr2:98163350-98163361
18	FOS	chr2:98166898-98167205	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
20	FOXA1	chr2:98159585-98159881	HepG2	liver:	n/a	n/a
21	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
22	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
23	MAFK	chr2:98156046-98156141	K562	blood:	n/a	n/a
24	POLR2A	chr2:98153270-98153358	ProgFib	skin:	n/a	n/a
25	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a
27	SIN3AK20	chr2:98159677-98159780	HepG2	liver:	n/a	n/a
28	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
29	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
30	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
31	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
32	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
33	SPI1	chr2:98163482-98163669	GM12878	blood:	n/a	n/a
34	SPI1	chr2:98163498-98163651	K562	blood:	n/a	n/a
35	SPI1	chr2:98163501-98163640	K562	blood:	n/a	n/a
36	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
37	ZBTB33	chr2:98165759-98165895	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-5	chr2:98166049-98166705	NONHSAT072653
2	lnc-ACTR1B-5	chr2:98164470-98165954	NONHSAT072653

No data

Variant related genes	Relation type
ANKRD36B	TF binding region

Extended variants
information (count: 514 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2922565	chr2:98152782-98152783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189589969	chr2:98152819-98152820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2922568	chr2:98152941-98152942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528773958	chr2:98152942-98152943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369286774	chr2:98152982-98152983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4069274	chr2:98153018-98153019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3970449	chr2:98153030-98153031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4069273	chr2:98153105-98153106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3970448	chr2:98153122-98153123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536677718	chr2:98153142-98153143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537415054	chr2:98153156-98153157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557400028	chr2:98153287-98153288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554999527	chr2:98153306-98153307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189323414	chr2:98153318-98153319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181981988	chr2:98153384-98153385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567715367	chr2:98153403-98153404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113442383	chr2:98153439-98153440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112578027	chr2:98153452-98153453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536789033	chr2:98153491-98153492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555262241	chr2:98153498-98153499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572237804	chr2:98153571-98153572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186313336	chr2:98153575-98153576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190380247	chr2:98153608-98153609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558001592	chr2:98153715-98153716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577530012	chr2:98153863-98153864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542976674	chr2:98153939-98153940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182890476	chr2:98154013-98154014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562951663	chr2:98154073-98154074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186335538	chr2:98154088-98154089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191342076	chr2:98154116-98154117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559677279	chr2:98154155-98154156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528713784	chr2:98154261-98154262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551705128	chr2:98154339-98154340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182837857	chr2:98154345-98154346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3925994	chr2:98154401-98154402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531233129	chr2:98154422-98154423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550990818	chr2:98154423-98154424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567702197	chr2:98154492-98154493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3925992	chr2:98154551-98154552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3925991	chr2:98154578-98154579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192471878	chr2:98154606-98154607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183246566	chr2:98154616-98154617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565501760	chr2:98154619-98154620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187904341	chr2:98154623-98154624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369666439	chr2:98154654-98154655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557674379	chr2:98154676-98154677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577471647	chr2:98154715-98154716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192039383	chr2:98154883-98154884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543362493	chr2:98154920-98154921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185226009	chr2:98154951-98154952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98152800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
3	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98142800-98153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
9	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:98143400-98154000	Weak transcription	Ovary	ovary
16	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:98147000-98155200	Weak transcription	Primary T cells from cord blood	blood
21	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:98150400-98155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:98151800-98153800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
29	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
31	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
32	chr2:98152600-98155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:98152800-98158400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:98153200-98157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:98153800-98156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:98154000-98156400	Strong transcription	Ovary	ovary
43	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
47	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
48	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links