Variant report

Variant	esv1851214
Chromosome Location	chr2:98162246-98167979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
2	CTCF	chr2:98164271-98164310	GM20000	blood:	n/a	n/a
3	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
4	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
10	FOS	chr2:98166898-98167205	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr2:98163202-98163548	HUVEC	blood vessel:	n/a	chr2:98163350-98163361
12	FOS	chr2:98166971-98167201	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
14	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
15	FOS	chr2:98166971-98167178	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
17	FOS	chr2:98166971-98167202	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:98166978-98167179	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
20	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
21	JUN	chr2:98166960-98167204	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr2:98166974-98167199	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a
25	POLR2A	chr2:98166951-98167300	HUVEC	blood vessel:	n/a	n/a
26	POU2F2	chr2:98167085-98167399	GM12878	blood:	n/a	n/a
27	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
28	SPI1	chr2:98163482-98163669	GM12878	blood:	n/a	n/a
29	SPI1	chr2:98163498-98163651	K562	blood:	n/a	n/a
30	SPI1	chr2:98167165-98167492	GM12878	blood:	n/a	n/a
31	SPI1	chr2:98167113-98167348	K562	blood:	n/a	n/a
32	SPI1	chr2:98167096-98167528	GM12891	blood:	n/a	n/a
33	SPI1	chr2:98167097-98167422	K562	blood:	n/a	n/a
34	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
35	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
36	SPI1	chr2:98167105-98167520	GM12878	blood:	n/a	n/a
37	SPI1	chr2:98167042-98167578	GM12891	blood:	n/a	n/a
38	SPI1	chr2:98163501-98163640	K562	blood:	n/a	n/a
39	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
40	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
41	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
42	STAT3	chr2:98166975-98167175	MCF10A-Er-Src	breast:	n/a	n/a
43	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: 329 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77536898	chr2:98162252-98162253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540685374	chr2:98162259-98162260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563797115	chr2:98162260-98162261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532864908	chr2:98162264-98162265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549956120	chr2:98162268-98162269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569954385	chr2:98162272-98162273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529542346	chr2:98162276-98162277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549681079	chr2:98162278-98162279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190300542	chr2:98162281-98162282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371104744	chr2:98162282-98162283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534984947	chr2:98162286-98162287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558195098	chr2:98162290-98162291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6761299	chr2:98162304-98162305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537590619	chr2:98162310-98162311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185416273	chr2:98162314-98162315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576221995	chr2:98162315-98162316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541679344	chr2:98162356-98162357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555601447	chr2:98162358-98162359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572260452	chr2:98162359-98162360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540974343	chr2:98162360-98162361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145082141	chr2:98162378-98162379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6707497	chr2:98162389-98162390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6761433	chr2:98162426-98162427	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs532852654	chr2:98162428-98162429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6707516	chr2:98162432-98162433	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs6761436	chr2:98162433-98162434	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs192266624	chr2:98162444-98162445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184049026	chr2:98162445-98162446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138809328	chr2:98162496-98162497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555005989	chr2:98162540-98162541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563517847	chr2:98162560-98162561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529464694	chr2:98162621-98162622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549329059	chr2:98162651-98162652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6744616	chr2:98162672-98162673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs528927890	chr2:98162690-98162691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189080143	chr2:98162764-98162765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571709486	chr2:98162789-98162790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534514200	chr2:98162792-98162793	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559328821	chr2:98162814-98162815	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537527966	chr2:98162828-98162829	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs551123856	chr2:98162865-98162866	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577448715	chr2:98162887-98162888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535595088	chr2:98162905-98162906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146384806	chr2:98162907-98162908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572298178	chr2:98162915-98162916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148170562	chr2:98162939-98162940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557313800	chr2:98162942-98162943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577245760	chr2:98162948-98162949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543038057	chr2:98162954-98162955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563363778	chr2:98162962-98162963	Weak transcription Strong transcription Genic enhancers	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:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
16	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
19	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
27	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
28	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
29	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
34	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:98155400-98162600	Weak transcription	Primary T cells from cord blood	blood
36	chr2:98155400-98165200	Weak transcription	Liver	Liver
37	chr2:98155800-98162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:98156400-98164200	Weak transcription	Fetal Brain Female	brain
40	chr2:98156400-98165000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:98156400-98168000	Weak transcription	Ovary	ovary
42	chr2:98156800-98168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:98156800-98168000	Weak transcription	HSMM	muscle
44	chr2:98156800-98204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:98158200-98167400	Weak transcription	Osteobl	bone
46	chr2:98160200-98165400	Weak transcription	Brain Angular Gyrus	brain
47	chr2:98160200-98205800	Weak transcription	K562	blood
48	chr2:98160800-98162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:98160800-98163800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:98160800-98175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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