Variant report

Variant	esv3693432
Chromosome Location	chr2:152986041-152997726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:152991091-152991548	K562	blood:	n/a	n/a
2	ATF1	chr2:152990985-152991733	K562	blood:	n/a	n/a
3	ATF3	chr2:152990999-152991337	K562	blood:	n/a	n/a
4	BATF	chr2:152991466-152991769	GM12878	blood:	n/a	n/a
5	BATF	chr2:152991558-152991754	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:152991428-152991671	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:152991085-152991728	K562	blood:	n/a	n/a
8	CCNT2	chr2:152990993-152991753	K562	blood:	n/a	n/a
9	CEBPB	chr2:152988934-152989124	A549	lung:	n/a	n/a
10	CEBPB	chr2:152994459-152994684	K562	blood:	n/a	n/a
11	CEBPB	chr2:152991082-152991361	K562	blood:	n/a	n/a
12	CEBPB	chr2:152988726-152989350	MCF-7	breast:	n/a	n/a
13	CEBPB	chr2:152990933-152991419	K562	blood:	n/a	n/a
14	CEBPB	chr2:152988882-152989210	MCF-7	breast:	n/a	n/a
15	CEBPB	chr2:152994459-152994737	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:152994534-152994646	A549	lung:	n/a	n/a
17	CEBPD	chr2:152990918-152991868	K562	blood:	n/a	n/a
18	CEBPD	chr2:152990951-152991943	K562	blood:	n/a	n/a
19	CREB1	chr2:152991005-152991873	K562	blood:	n/a	n/a
20	CTCF	chr2:152992888-152992911	GM13976	blood:	n/a	n/a
21	CUX1	chr2:152990918-152991284	K562	blood:	n/a	n/a
22	E2F4	chr2:152991026-152991203	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr2:152991170-152991249	GM12878	blood:	n/a	n/a
24	EGR1	chr2:152991490-152991743	K562	blood:	n/a	n/a
25	ELK1	chr2:152991268-152991457	GM12878	blood:	n/a	n/a
26	EP300	chr2:152990985-152991791	K562	blood:	n/a	chr2:152991117-152991126
27	EP300	chr2:152991134-152991795	GM12878	blood:	n/a	n/a
28	EP300	chr2:152995299-152995347	GM12878	blood:	n/a	n/a
29	FOS	chr2:152990602-152991275	MCF10A-Er-Src	breast:	n/a	chr2:152991117-152991127 chr2:152991117-152991126 chr2:152991119-152991126 chr2:152991117-152991127
30	FOS	chr2:152990949-152991308	MCF10A-Er-Src	breast:	n/a	chr2:152991117-152991127 chr2:152991117-152991126 chr2:152991119-152991126 chr2:152991117-152991127
31	FOS	chr2:152991045-152991250	MCF10A-Er-Src	breast:	n/a	chr2:152991117-152991127 chr2:152991117-152991126 chr2:152991119-152991126 chr2:152991117-152991127
32	FOS	chr2:152990572-152991309	MCF10A-Er-Src	breast:	n/a	chr2:152991117-152991127 chr2:152991117-152991126 chr2:152991119-152991126 chr2:152991117-152991127
33	FOSL1	chr2:152990998-152991272	K562	blood:	n/a	chr2:152991117-152991127 chr2:152991117-152991126 chr2:152991119-152991126 chr2:152991116-152991127 chr2:152991117-152991127
34	FOXA1	chr2:152991267-152991737	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:152991322-152991595	HepG2	liver:	n/a	n/a
36	FOXA1	chr2:152988858-152989175	T-47D	breast:	n/a	n/a
37	FOXA2	chr2:152991364-152991644	HepG2	liver:	n/a	n/a
38	GABPA	chr2:152991034-152991332	K562	blood:	n/a	n/a
39	GABPA	chr2:152991423-152991830	K562	blood:	n/a	n/a
40	GATA1	chr2:152990926-152992058	K562	blood:	n/a	chr2:152991824-152991834
41	GATA1	chr2:152990904-152991842	PBDE	blood:	n/a	chr2:152991824-152991834
42	GATA2	chr2:152990990-152991445	K562	blood:	n/a	n/a
43	GATA2	chr2:152990954-152991895	K562	blood:	n/a	chr2:152991824-152991834
44	GATA2	chr2:152991454-152991808	K562	blood:	n/a	n/a
45	GATA3	chr2:152988822-152989244	T-47D	breast:	n/a	n/a
46	GATA3	chr2:152988790-152989328	MCF-7	breast:	n/a	n/a
47	GATA3	chr2:152994129-152994220	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr2:152988832-152989298	MCF-7	breast:	n/a	n/a
49	GATA3	chr2:152988904-152989241	A549	lung:	n/a	n/a
50	GATA3	chr2:152986154-152986266	SH-SY5Y	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152991620-152991670	MCF10A-Er-Src	breast:	n/a
2	chr2:152991620-152991670	K562	blood:	n/a
3	chr2:152991620-152991670	H1-hESC	embryonic stem cell:	embryo
4	chr2:152991620-152991670	NH-A	brain:	n/a
5	chr2:152991620-152991670	SK-N-SH	brain:	n/a
6	chr2:152991620-152991670	HCT-116	colon:	n/a
7	chr2:152991620-152991670	AoSMC	blood vessel:	n/a
8	chr2:152991620-152991670	Hela-S3	cervix:	n/a
9	chr2:152991620-152991670	MCF-7	breast:	n/a
10	chr2:152991620-152991670	SK-N-MC	brain:	n/a
11	chr2:152991620-152991670	U87	brain:	n/a
12	chr2:152991620-152991670	LNCaP	prostate:	n/a
13	chr2:152991620-152991670	GM06990	blood:	n/a
14	chr2:152991620-152991670	AG04450	lung:	fetal
15	chr2:152991620-152991670	HAEpiC	amniotic membrane:	n/a
16	chr2:152991620-152991670	ProgFib	skin:	n/a
17	chr2:152991620-152991670	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:152991620-152991670	HUVEC	blood vessel:	n/a
19	chr2:152991620-152991670	AG09319	gingival:	n/a
20	chr2:152991620-152991670	NB4	blood:	n/a
21	chr2:152991620-152991670	HRCEpiC	kidney:	n/a
22	chr2:152991620-152991670	GM19239	blood:	n/a
23	chr2:152991620-152991670	IMR90	lung:	fetal
24	chr2:152991620-152991670	HRE	kidney:	n/a
25	chr2:152991620-152991670	ECC-1	luminal epithelium:	n/a
26	chr2:152991620-152991670	BE2_C	brain:	n/a
27	chr2:152991620-152991670	AG04449	skin:	fetal
28	chr2:152991620-152991670	SAEC	small airway:	n/a
29	chr2:152991620-152991670	A549	lung:	n/a
30	chr2:152991620-152991670	HMEC	breast:	n/a
31	chr2:152991620-152991670	PrEC	prostate:	n/a
32	chr2:152991620-152991670	HL-60	blood:	n/a
33	chr2:152991620-152991670	HRPEpiC	eye:	n/a
34	chr2:152991620-152991670	HNPCEpiC	eye:	n/a
35	chr2:152991620-152991670	HEEpiC	esophagus:	n/a
36	chr2:152991620-152991670	AG10803	skin:	n/a
37	chr2:152991620-152991670	T-47D	breast:	n/a
38	chr2:152991620-152991670	SK-N-SH_RA	brain:	n/a
39	chr2:152991620-152991670	HCPEpiC	choroid plexus:	n/a
40	chr2:152991620-152991670	GM12892	blood:	n/a
41	chr2:152991620-152991670	RPTEC	kidney:	n/a
42	chr2:152991620-152991670	HEK293	kidney:	embryo
43	chr2:152991620-152991670	Caco-2	colon:	n/a
44	chr2:152991620-152991670	GM12891	blood:	n/a
45	chr2:152991620-152991670	SKMC	muscle:	n/a
46	chr2:152991620-152991670	NHDF-neo	bronchial:	n/a
47	chr2:152991620-152991670	PANC-1	pancreas:	n/a
48	chr2:152991620-152991670	Hepatocyte	liver:	n/a
49	chr2:152991620-152991670	BJ	skin:	n/a
50	chr2:152991620-152991670	HepG2	liver:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152989033..152991162-chr2:153026877..153029419,3	MCF-7	breast:
2	chr2:152991291..152993759-chr2:152994536..152996145,2	K562	blood:
3	chr2:152995292..152997762-chr2:153001457..153003631,2	K562	blood:
4	chr2:152980042..152982798-chr2:152988389..152990158,2	K562	blood:
5	chr2:152988621..152992482-chr2:153030836..153032749,3	MCF-7	breast:
6	chr2:152995687..152997718-chr2:153000846..153003474,2	K562	blood:
7	chr2:152991291..152993759-chr2:152994536..152996145,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMNL2-3	chr2:152988069-152988359	NONHSAT074975

No data

Variant related genes	Relation type
RPL30P2	TF binding region
STAM2	TF binding region
RPL30P2	CpG island
STAM2	CpG island
ENSG00000115145	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4664531	chr2:152986041-152986042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562561301	chr2:152986044-152986045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146711130	chr2:152986181-152986182	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs139311520	chr2:152986191-152986192	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs545308390	chr2:152986192-152986193	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs78663756	chr2:152986200-152986201	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs542361946	chr2:152986217-152986218	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115015396	chr2:152986254-152986255	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572868982	chr2:152986263-152986264	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187893727	chr2:152986289-152986290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533476795	chr2:152986291-152986292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73000977	chr2:152986298-152986299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114266295	chr2:152986346-152986347	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531255993	chr2:152986352-152986353	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs142557242	chr2:152986357-152986358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs16830736	chr2:152986376-152986377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530363558	chr2:152986404-152986405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546769226	chr2:152986448-152986449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568884168	chr2:152986460-152986461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76580516	chr2:152986499-152986500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371587194	chr2:152986529-152986530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145614384	chr2:152986578-152986579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12623355	chr2:152986593-152986594	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs16830739	chr2:152986609-152986610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560993906	chr2:152986676-152986677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185122235	chr2:152986702-152986703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140692209	chr2:152986802-152986803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150079615	chr2:152986804-152986805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536489735	chr2:152986827-152986828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112557913	chr2:152986835-152986836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552780341	chr2:152986851-152986852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531327777	chr2:152986852-152986853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532923859	chr2:152986877-152986878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367596827	chr2:152986922-152986923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573004646	chr2:152986927-152986928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189249398	chr2:152986979-152986980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371738761	chr2:152987012-152987013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34893830	chr2:152987031-152987032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112533158	chr2:152987055-152987056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72621654	chr2:152987056-152987057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544572197	chr2:152987064-152987065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561663705	chr2:152987065-152987066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574918865	chr2:152987166-152987167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184980706	chr2:152987208-152987209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560354399	chr2:152987239-152987240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372366021	chr2:152987295-152987296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532484120	chr2:152987311-152987312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376598039	chr2:152987344-152987345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552114250	chr2:152987355-152987356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12614602	chr2:152987362-152987363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
2	chr2:152969400-152989000	Weak transcription	HepG2	liver
3	chr2:152970000-152990800	Weak transcription	Stomach Mucosa	stomach
4	chr2:152970200-153003000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
6	chr2:152971400-153002200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:152972800-152991000	Weak transcription	Gastric	stomach
8	chr2:152974200-153001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
10	chr2:152974800-153002000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:152974800-153003800	Weak transcription	NHEK	skin
12	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
13	chr2:152975000-152987800	Weak transcription	Right Ventricle	heart
14	chr2:152975000-153003200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:152975000-153003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:152975000-153005400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:152975200-152990000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:152975400-152988800	Weak transcription	A549	lung
19	chr2:152975600-152986600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:152976000-152986600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:152976200-153010200	Weak transcription	Fetal Brain Male	brain
23	chr2:152976200-153013400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:152976400-152991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:152976400-153005000	Weak transcription	Fetal Heart	heart
26	chr2:152976400-153013400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:152976600-152991000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:152976600-152991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:152976600-152991400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:152976800-152991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:152976800-152991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:152976800-152991200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:152976800-153003000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:152977000-152986600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:152977000-152991000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:152977400-153006200	Weak transcription	HMEC	breast
37	chr2:152977600-152990600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:152978000-153001600	Weak transcription	Lung	lung
39	chr2:152978200-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:152978200-153021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:152978400-152991000	Weak transcription	HUVEC	blood vessel
42	chr2:152978400-153003400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:152979000-153001400	Weak transcription	Small Intestine	intestine
44	chr2:152979000-153002000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:152979400-153001400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:152979600-152987000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:152979600-152987800	Weak transcription	Thymus	Thymus
48	chr2:152979600-152997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:152979600-152999000	Weak transcription	Fetal Thymus	thymus
50	chr2:152979600-152999600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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