Variant report

Variant	esv1800583
Chromosome Location	chr2:152433970-152480935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:519)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:152475918-152476168	K562	blood:	n/a	n/a
2	ARID3A	chr2:152475908-152476156	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:152473538-152473689	K562	blood:	n/a	n/a
4	ARID3A	chr2:152471221-152471756	K562	blood:	n/a	n/a
5	ATF1	chr2:152471227-152471887	K562	blood:	n/a	n/a
6	ATF1	chr2:152470680-152470976	K562	blood:	n/a	n/a
7	ATF1	chr2:152475782-152476352	K562	blood:	n/a	n/a
8	ATF3	chr2:152475830-152476205	K562	blood:	n/a	n/a
9	BATF	chr2:152471516-152471727	GM12878	blood:	n/a	chr2:152471623-152471634
10	BATF	chr2:152458334-152458665	GM12878	blood:	n/a	n/a
11	BATF	chr2:152447781-152448112	GM12878	blood:	n/a	n/a
12	BATF	chr2:152471501-152471796	GM12878	blood:	n/a	chr2:152471623-152471634
13	BATF	chr2:152437230-152437561	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:152458352-152458651	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:152437248-152437547	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:152447799-152448098	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:152475839-152476343	K562	blood:	n/a	n/a
18	CCNT2	chr2:152471521-152471693	K562	blood:	n/a	n/a
19	CEBPB	chr2:152453798-152454061	K562	blood:	n/a	n/a
20	CEBPB	chr2:152464307-152464657	K562	blood:	n/a	n/a
21	CEBPB	chr2:152475835-152476240	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:152464347-152464575	K562	blood:	n/a	n/a
23	CEBPB	chr2:152443187-152443552	K562	blood:	n/a	n/a
24	CEBPB	chr2:152475871-152476156	K562	blood:	n/a	n/a
25	CEBPB	chr2:152453747-152454114	K562	blood:	n/a	n/a
26	CEBPB	chr2:152443242-152443477	K562	blood:	n/a	n/a
27	CEBPD	chr2:152448226-152448506	K562	blood:	n/a	n/a
28	CHD2	chr2:152470178-152470276	K562	blood:	n/a	n/a
29	CREB1	chr2:152475686-152476327	HepG2	liver:	n/a	n/a
30	CREB1	chr2:152475619-152476310	K562	blood:	n/a	n/a
31	CREB1	chr2:152475739-152476185	GM12878	blood:	n/a	n/a
32	CREB1	chr2:152475837-152476093	A549	lung:	n/a	n/a
33	CREB1	chr2:152475707-152476286	K562	blood:	n/a	n/a
34	CREB1	chr2:152475848-152476152	GM12878	blood:	n/a	n/a
35	CREB1	chr2:152475898-152476212	A549	lung:	n/a	n/a
36	CREB1	chr2:152475693-152476263	HepG2	liver:	n/a	n/a
37	CTCF	chr2:152447760-152448171	A549	lung:	n/a	n/a
38	CTCF	chr2:152476020-152476170	AG04450	lung:	n/a	n/a
39	CTCF	chr2:152476060-152476210	RPTEC	kidney:	n/a	n/a
40	CTCF	chr2:152476120-152476270	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:152458304-152458732	K562	blood:	n/a	n/a
42	CTCF	chr2:152476000-152476150	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr2:152471176-152471382	A549	lung:	n/a	n/a
44	CTCF	chr2:152475540-152475690	HRE	kidney:	n/a	n/a
45	CTCF	chr2:152447835-152448140	A549	lung:	n/a	n/a
46	CTCF	chr2:152464439-152464545	GM13976	blood:	n/a	n/a
47	CTCF	chr2:152447752-152448146	K562	blood:	n/a	n/a
48	CTCF	chr2:152447780-152448152	K562	blood:	n/a	n/a
49	CTCF	chr2:152447740-152447890	GM12868	blood:	n/a	n/a
50	CTCF	chr2:152473580-152473730	HPAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152440445-152440495	AoSMC	blood vessel:	n/a
2	chr2:152440445-152440495	GM12878	blood:	n/a
3	chr2:152440445-152440495	A549	lung:	n/a
4	chr2:152440445-152440495	HEK293	kidney:	embryo
5	chr2:152440445-152440495	MCF10A-Er-Src	breast:	n/a
6	chr2:152440445-152440495	NB4	blood:	n/a
7	chr2:152440445-152440495	U87	brain:	n/a
8	chr2:152440445-152440495	SK-N-SH_RA	brain:	n/a
9	chr2:152440445-152440495	HCF	heart:	n/a
10	chr2:152440445-152440495	AG04449	skin:	fetal
11	chr2:152440445-152440495	T-47D	breast:	n/a
12	chr2:152440445-152440495	HRPEpiC	eye:	n/a
13	chr2:152440445-152440495	HCT-116	colon:	n/a
14	chr2:152440445-152440495	NT2-D1	testis:	n/a
15	chr2:152440445-152440495	CMK	blood:	n/a
16	chr2:152440445-152440495	K562	blood:	n/a
17	chr2:152440445-152440495	GM12892	blood:	n/a
18	chr2:152440445-152440495	HNPCEpiC	eye:	n/a
19	chr2:152440445-152440495	ovcar-3	ovarian:	n/a
20	chr2:152440445-152440495	AG10803	skin:	n/a
21	chr2:152440445-152440495	IMR90	lung:	fetal
22	chr2:152440445-152440495	RPTEC	kidney:	n/a
23	chr2:152440445-152440495	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:152440445-152440495	SKMC	muscle:	n/a
25	chr2:152440445-152440495	Hepatocyte	liver:	n/a
26	chr2:152440445-152440495	HAEpiC	amniotic membrane:	n/a
27	chr2:152440445-152440495	HEEpiC	esophagus:	n/a
28	chr2:152440445-152440495	BJ	skin:	n/a
29	chr2:152440445-152440495	NHDF-neo	bronchial:	n/a
30	chr2:152440445-152440495	GM06990	blood:	n/a
31	chr2:152440445-152440495	HRE	kidney:	n/a
32	chr2:152440445-152440495	LNCaP	prostate:	n/a
33	chr2:152440445-152440495	GM19239	blood:	n/a
34	chr2:152440445-152440495	ECC-1	luminal epithelium:	n/a
35	chr2:152440445-152440495	Hela-S3	cervix:	n/a
36	chr2:152440445-152440495	HCPEpiC	choroid plexus:	n/a
37	chr2:152440445-152440495	HepG2	liver:	n/a
38	chr2:152440445-152440495	HL-60	blood:	n/a
39	chr2:152440445-152440495	NH-A	brain:	n/a
40	chr2:152440445-152440495	HIPEpiC	eye:	n/a
41	chr2:152440445-152440495	HUVEC	blood vessel:	n/a
42	chr2:152440445-152440495	ProgFib	skin:	n/a
43	chr2:152440445-152440495	AG09309	skin:	n/a
44	chr2:152440445-152440495	Jurkat	blood:	n/a
45	chr2:152440445-152440495	PANC-1	pancreas:	n/a
46	chr2:152440445-152440495	NHBE	bronchial:	n/a
47	chr2:152440445-152440495	Caco-2	colon:	n/a
48	chr2:152440445-152440495	HRCEpiC	kidney:	n/a
49	chr2:152440445-152440495	BE2_C	brain:	n/a
50	chr2:152440445-152440495	GM12891	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152120609..152121411-chr2:152475693..152476303,2	MCF-7	breast:
2	chr2:152470745..152473720-chr2:152480140..152483557,3	K562	blood:
3	chr2:152467390..152469082-chr2:152475969..152477688,2	MCF-7	breast:
4	chr2:152470745..152473720-chr2:152480140..152483557,3	K562	blood:
5	chr2:152471974..152472482-chr2:152882224..152882926,2	K562	blood:
6	chr2:152478231..152481133-chr2:152482062..152484946,3	K562	blood:
7	chr2:152474324..152476009-chr2:152481234..152483014,2	K562	blood:
8	chr2:152470745..152473899-chr2:152481197..152482872,3	K562	blood:
9	chr2:152479591..152483516-chr2:152681949..152685103,4	K562	blood:
10	chr2:152467390..152469082-chr2:152475969..152477688,2	MCF-7	breast:

No data

Variant related genes	Relation type
NEB	TF binding region
NEB	CpG island
ENSG00000162980	chromatin interactions

Extended variants
information (count: 942 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140271590	chr2:152434017-152434018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541327915	chr2:152434035-152434036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561706320	chr2:152434059-152434060	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189026131	chr2:152434067-152434068	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543830856	chr2:152434068-152434069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563430718	chr2:152434103-152434104	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549163678	chr2:152434112-152434113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529303347	chr2:152434117-152434118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192696802	chr2:152434118-152434119	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561514158	chr2:152434162-152434163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374689143	chr2:152434168-152434169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527508632	chr2:152434189-152434190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547353501	chr2:152434196-152434197	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570758069	chr2:152434201-152434202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183567111	chr2:152434249-152434250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369805203	chr2:152434250-152434251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549795769	chr2:152434287-152434288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569670606	chr2:152434296-152434297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7422136	chr2:152434317-152434318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs201804220	chr2:152434351-152434352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555516873	chr2:152434360-152434361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188291311	chr2:152434385-152434386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138054267	chr2:152434423-152434424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377039628	chr2:152434427-152434428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558150698	chr2:152434434-152434435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538907698	chr2:152434438-152434439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578224884	chr2:152434467-152434468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79722563	chr2:152434512-152434513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75983376	chr2:152434520-152434521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145984054	chr2:152434548-152434549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138505166	chr2:152434549-152434550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542686767	chr2:152434571-152434572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559449354	chr2:152434577-152434578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181075746	chr2:152434596-152434597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184976275	chr2:152434613-152434614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564222446	chr2:152434633-152434634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369125377	chr2:152434645-152434646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10167358	chr2:152434692-152434693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550107741	chr2:152434693-152434694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4616478	chr2:152434821-152434822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370477835	chr2:152434865-152434866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549074640	chr2:152434866-152434867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146383966	chr2:152434879-152434880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189808361	chr2:152434886-152434887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62174688	chr2:152434910-152434911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112129826	chr2:152434982-152434983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537717247	chr2:152435003-152435004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571600251	chr2:152435018-152435019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557256600	chr2:152435032-152435033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573679607	chr2:152435090-152435091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
2	chr2:152416200-152434400	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152429800-152434200	Strong transcription	HSMMtube	muscle
4	chr2:152433400-152434000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:152433600-152434000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152433800-152434200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:152434000-152434800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:152434200-152434800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:152434200-152448200	Weak transcription	HSMMtube	muscle
11	chr2:152434400-152435200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:152434800-152447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:152434800-152448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:152435200-152435400	Enhancers	Spleen	Spleen
15	chr2:152435200-152435600	Strong transcription	Fetal Muscle Leg	muscle
16	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:152448200-152448600	Enhancers	Liver	Liver
20	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle
21	chr2:152448400-152448800	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
25	chr2:152460200-152463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
27	chr2:152463800-152464000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:152464000-152466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
31	chr2:152465600-152466600	Enhancers	Liver	Liver
32	chr2:152466000-152467200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:152466200-152469200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:152466200-152469400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:152466200-152469400	Strong transcription	HSMMtube	muscle
36	chr2:152467200-152468200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:152467600-152471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:152467800-152471200	Weak transcription	Primary T cells from cord blood	blood
39	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:152468200-152468800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:152468200-152469400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:152469200-152470600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:152469400-152470400	Weak transcription	HSMMtube	muscle
44	chr2:152469400-152470600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:152469400-152470600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:152470400-152477600	Strong transcription	HSMMtube	muscle
47	chr2:152470600-152471000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:152470600-152472000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:152470600-152472000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:152470600-152472000	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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