Variant report

Variant	esv1825324
Chromosome Location	chr2:98154449-98168868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

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	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
4	CTCF	chr2:98164271-98164310	GM20000	blood:	n/a	n/a
5	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr2:98158391-98158472	GM13976	blood:	n/a	n/a
7	CTCF	chr2:98159687-98159697	LNCaP	prostate:	n/a	n/a
8	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:98158929-98158970	GM13976	blood:	n/a	n/a
10	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr2:98155511-98155562	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
13	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
15	FOS	chr2:98168828-98169243	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr2:98166971-98167201	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:98166978-98167179	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:98166971-98167202	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr2:98166971-98167178	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
21	FOS	chr2:98166898-98167205	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
23	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
24	FOS	chr2:98163202-98163548	HUVEC	blood vessel:	n/a	chr2:98163350-98163361
25	FOXA1	chr2:98159585-98159881	HepG2	liver:	n/a	n/a
26	GATA2	chr2:98168635-98169396	HUVEC	blood vessel:	n/a	n/a
27	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
28	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
29	JUN	chr2:98166960-98167204	HUVEC	blood vessel:	n/a	n/a
30	MAFK	chr2:98156046-98156141	K562	blood:	n/a	n/a
31	POLR2A	chr2:98166951-98167300	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr2:98166974-98167199	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a
35	POU2F2	chr2:98167085-98167399	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr2:98159677-98159780	HepG2	liver:	n/a	n/a
37	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
38	SPI1	chr2:98167096-98167528	GM12891	blood:	n/a	n/a
39	SPI1	chr2:98163501-98163640	K562	blood:	n/a	n/a
40	SPI1	chr2:98167165-98167492	GM12878	blood:	n/a	n/a
41	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
42	SPI1	chr2:98167113-98167348	K562	blood:	n/a	n/a
43	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
44	SPI1	chr2:98167042-98167578	GM12891	blood:	n/a	n/a
45	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
46	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
47	SPI1	chr2:98163482-98163669	GM12878	blood:	n/a	n/a
48	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
49	SPI1	chr2:98163498-98163651	K562	blood:	n/a	n/a
50	SPI1	chr2:98167105-98167520	GM12878	blood:	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: 580 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567702197	chr2:98154492-98154493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3925992	chr2:98154551-98154552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3925991	chr2:98154578-98154579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192471878	chr2:98154606-98154607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183246566	chr2:98154616-98154617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565501760	chr2:98154619-98154620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187904341	chr2:98154623-98154624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369666439	chr2:98154654-98154655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557674379	chr2:98154676-98154677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577471647	chr2:98154715-98154716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192039383	chr2:98154883-98154884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543362493	chr2:98154920-98154921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185226009	chr2:98154951-98154952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58978057	chr2:98154985-98154986	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2442234	chr2:98154987-98154988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188192341	chr2:98154999-98155000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192755622	chr2:98155025-98155026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184447768	chr2:98155042-98155043	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572868181	chr2:98155175-98155176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530664638	chr2:98155250-98155251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6727416	chr2:98155288-98155289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531220639	chr2:98155371-98155372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111380419	chr2:98155457-98155458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551328818	chr2:98155589-98155590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561242531	chr2:98155671-98155672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188000687	chr2:98155764-98155765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546689919	chr2:98155767-98155768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180861345	chr2:98155805-98155806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184606333	chr2:98155826-98155827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551552597	chr2:98155870-98155871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6737245	chr2:98155915-98155916	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536934646	chr2:98155944-98155945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3970447	chr2:98155946-98155947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3970446	chr2:98155963-98155964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4069272	chr2:98155966-98155967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562633102	chr2:98156023-98156024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2309075	chr2:98156059-98156060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567437340	chr2:98156064-98156065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2309074	chr2:98156085-98156086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6740279	chr2:98156087-98156088	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2309073	chr2:98156110-98156111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529752993	chr2:98156124-98156125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536210629	chr2:98156137-98156138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552704599	chr2:98156139-98156140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2871109	chr2:98156147-98156148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572890377	chr2:98156164-98156165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544816578	chr2:98156174-98156175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189390776	chr2:98156240-98156241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373406704	chr2:98156349-98156350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548206329	chr2:98156353-98156354	Weak transcription Strong 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:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
7	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:98147000-98155200	Weak transcription	Primary T cells from cord blood	blood
18	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:98150400-98155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
25	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
28	chr2:98152600-98155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:98152800-98158400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:98153200-98157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:98153800-98156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:98154000-98156400	Strong transcription	Ovary	ovary
39	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
43	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
44	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
49	chr2:98155200-98155400	Strong transcription	Primary T cells from cord blood	blood
50	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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