Variant report

Variant	esv3460305
Chromosome Location	chr2:98162620-98168618
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	chr2:98165360-98165510	HMF	breast:	n/a	n/a
2	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
6	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr2:98164271-98164310	GM20000	blood:	n/a	n/a
8	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
10	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
11	FOS	chr2:98166971-98167201	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:98166978-98167179	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
14	FOS	chr2:98166971-98167202	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
16	FOS	chr2:98166971-98167178	MCF10A-Er-Src	breast:	n/a	n/a
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	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
20	JUN	chr2:98166960-98167204	HUVEC	blood vessel:	n/a	n/a
21	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr2:98166951-98167300	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a
24	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr2:98166974-98167199	SK-N-SH	brain:	n/a	n/a
26	POU2F2	chr2:98167085-98167399	GM12878	blood:	n/a	n/a
27	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
28	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
29	SPI1	chr2:98163482-98163669	GM12878	blood:	n/a	n/a
30	SPI1	chr2:98167113-98167348	K562	blood:	n/a	n/a
31	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
32	SPI1	chr2:98167096-98167528	GM12891	blood:	n/a	n/a
33	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
34	SPI1	chr2:98163498-98163651	K562	blood:	n/a	n/a
35	SPI1	chr2:98167097-98167422	K562	blood:	n/a	n/a
36	SPI1	chr2:98167165-98167492	GM12878	blood:	n/a	n/a
37	SPI1	chr2:98167105-98167520	GM12878	blood:	n/a	n/a
38	SPI1	chr2:98163501-98163640	K562	blood:	n/a	n/a
39	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
40	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
41	SPI1	chr2:98167042-98167578	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: 327 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs529464694	chr2:98162621-98162622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549329059	chr2:98162651-98162652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6744616	chr2:98162672-98162673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs528927890	chr2:98162690-98162691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189080143	chr2:98162764-98162765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571709486	chr2:98162789-98162790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534514200	chr2:98162792-98162793	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559328821	chr2:98162814-98162815	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537527966	chr2:98162828-98162829	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551123856	chr2:98162865-98162866	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577448715	chr2:98162887-98162888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535595088	chr2:98162905-98162906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146384806	chr2:98162907-98162908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572298178	chr2:98162915-98162916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148170562	chr2:98162939-98162940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557313800	chr2:98162942-98162943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577245760	chr2:98162948-98162949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543038057	chr2:98162954-98162955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563363778	chr2:98162962-98162963	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141922439	chr2:98162970-98162971	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543162840	chr2:98162988-98162989	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191478927	chr2:98163004-98163005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150667466	chr2:98163068-98163069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552138080	chr2:98163098-98163099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11676277	chr2:98163124-98163125	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530892022	chr2:98163154-98163155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551003109	chr2:98163202-98163203	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11690658	chr2:98163203-98163204	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs563602249	chr2:98163245-98163246	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs183743086	chr2:98163261-98163262	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186956389	chr2:98163266-98163267	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs534581380	chr2:98163302-98163303	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557601918	chr2:98163314-98163315	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577534031	chr2:98163332-98163333	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs536611273	chr2:98163333-98163334	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574481536	chr2:98163341-98163342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs541475765	chr2:98163356-98163357	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573680269	chr2:98163393-98163394	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs72493438	chr2:98163401-98163402	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12712050	chr2:98163417-98163418	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs573506853	chr2:98163443-98163444	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139930280	chr2:98163450-98163451	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9653441	chr2:98163456-98163457	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113121919	chr2:98163508-98163509	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565536080	chr2:98163545-98163546	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531233081	chr2:98163602-98163603	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550948611	chr2:98163605-98163606	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147175453	chr2:98163607-98163608	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530192033	chr2:98163629-98163630	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560778779	chr2:98163658-98163659	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	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:256 , 50 per page) page: 1 2 3 4 5 6

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	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
24	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
25	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
26	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
29	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:98155400-98165200	Weak transcription	Liver	Liver
31	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:98156400-98164200	Weak transcription	Fetal Brain Female	brain
33	chr2:98156400-98165000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:98156400-98168000	Weak transcription	Ovary	ovary
35	chr2:98156800-98168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:98156800-98168000	Weak transcription	HSMM	muscle
37	chr2:98156800-98204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:98158200-98167400	Weak transcription	Osteobl	bone
39	chr2:98160200-98165400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:98160200-98205800	Weak transcription	K562	blood
41	chr2:98160800-98163800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:98160800-98175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:98161000-98164200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:98161000-98167600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:98161200-98162800	Weak transcription	Dnd41	blood
46	chr2:98161200-98165000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:98161200-98165400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:98161200-98171000	Weak transcription	HMEC	breast
49	chr2:98161400-98165000	Weak transcription	Fetal Brain Male	brain
50	chr2:98161400-98165400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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