Variant report

Variant	esv1796024
Chromosome Location	chr2:152438951-152461733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:152447781-152448112	GM12878	blood:	n/a	n/a
2	BATF	chr2:152458334-152458665	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:152447799-152448098	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:152458352-152458651	GM12878	blood:	n/a	n/a
5	CEBPB	chr2:152453747-152454114	K562	blood:	n/a	n/a
6	CEBPB	chr2:152443187-152443552	K562	blood:	n/a	n/a
7	CEBPB	chr2:152453798-152454061	K562	blood:	n/a	n/a
8	CEBPB	chr2:152443242-152443477	K562	blood:	n/a	n/a
9	CEBPD	chr2:152448226-152448506	K562	blood:	n/a	n/a
10	CTCF	chr2:152458412-152458711	GM10248	blood:	n/a	n/a
11	CTCF	chr2:152447860-152448109	GM20000	blood:	n/a	n/a
12	CTCF	chr2:152448256-152448318	GM10266	blood:	n/a	n/a
13	CTCF	chr2:152453745-152454184	A549	lung:	n/a	n/a
14	CTCF	chr2:152453805-152454059	A549	lung:	n/a	n/a
15	CTCF	chr2:152448155-152448157	GM10248	blood:	n/a	n/a
16	CTCF	chr2:152443192-152443631	A549	lung:	n/a	n/a
17	CTCF	chr2:152447828-152448153	Medullo	brain:	n/a	n/a
18	CTCF	chr2:152448240-152448390	HCM	heart:	n/a	n/a
19	CTCF	chr2:152448500-152448650	K562	blood:	n/a	n/a
20	CTCF	chr2:152453810-152454042	A549	lung:	n/a	n/a
21	CTCF	chr2:152448265-152448298	GM13977	blood:	n/a	n/a
22	CTCF	chr2:152448480-152448630	AG10803	skin:	n/a	n/a
23	CTCF	chr2:152448260-152448410	HCM	heart:	n/a	n/a
24	CTCF	chr2:152447820-152448172	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr2:152458428-152458671	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr2:152458274-152458761	A549	lung:	n/a	n/a
27	CTCF	chr2:152458388-152458693	A549	lung:	n/a	n/a
28	CTCF	chr2:152447835-152448140	A549	lung:	n/a	n/a
29	CTCF	chr2:152443201-152443508	K562	blood:	n/a	n/a
30	CTCF	chr2:152443420-152443451	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr2:152458304-152458732	K562	blood:	n/a	n/a
32	CTCF	chr2:152447760-152448171	A549	lung:	n/a	n/a
33	CTCF	chr2:152448240-152448390	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr2:152447859-152448114	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:152447780-152447930	AG09309	skin:	n/a	n/a
36	CTCF	chr2:152448240-152448390	AG09319	gingival:	n/a	n/a
37	CTCF	chr2:152458416-152458694	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:152447857-152447958	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:152447721-152448208	A549	lung:	n/a	n/a
40	CTCF	chr2:152448388-152448395	GM10248	blood:	n/a	n/a
41	CTCF	chr2:152447858-152447944	A549	lung:	n/a	n/a
42	CTCF	chr2:152458425-152458671	GM13976	blood:	n/a	n/a
43	CTCF	chr2:152441095-152441102	GM13977	blood:	n/a	n/a
44	CTCF	chr2:152443252-152443506	A549	lung:	n/a	n/a
45	CTCF	chr2:152448280-152448430	NB4	blood:	n/a	n/a
46	CTCF	chr2:152448240-152448390	AG04450	lung:	n/a	n/a
47	CTCF	chr2:152448240-152448390	GM06990	blood:	n/a	n/a
48	CTCF	chr2:152448242-152448285	Medullo	brain:	n/a	n/a
49	CTCF	chr2:152458215-152458321	GM20000	blood:	n/a	n/a
50	CTCF	chr2:152442041-152442082	GM13976	blood:	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	HMEC	breast:	n/a
2	chr2:152440445-152440495	NHBE	bronchial:	n/a
3	chr2:152440445-152440495	GM12892	blood:	n/a
4	chr2:152440445-152440495	HCF	heart:	n/a
5	chr2:152440445-152440495	HRPEpiC	eye:	n/a
6	chr2:152440445-152440495	HRCEpiC	kidney:	n/a
7	chr2:152440445-152440495	GM06990	blood:	n/a
8	chr2:152440445-152440495	ovcar-3	ovarian:	n/a
9	chr2:152440445-152440495	Hepatocyte	liver:	n/a
10	chr2:152440445-152440495	A549	lung:	n/a
11	chr2:152440445-152440495	PANC-1	pancreas:	n/a
12	chr2:152440445-152440495	AG04449	skin:	fetal
13	chr2:152440445-152440495	SKMC	muscle:	n/a
14	chr2:152440445-152440495	BE2_C	brain:	n/a
15	chr2:152440445-152440495	SK-N-SH	brain:	n/a
16	chr2:152440445-152440495	HRE	kidney:	n/a
17	chr2:152440445-152440495	U87	brain:	n/a
18	chr2:152440445-152440495	GM19239	blood:	n/a
19	chr2:152440445-152440495	Hela-S3	cervix:	n/a
20	chr2:152440445-152440495	AG09309	skin:	n/a
21	chr2:152440445-152440495	HUVEC	blood vessel:	n/a
22	chr2:152440445-152440495	HCM	heart:	n/a
23	chr2:152440445-152440495	SK-N-SH_RA	brain:	n/a
24	chr2:152440445-152440495	H1-hESC	embryonic stem cell:	embryo
25	chr2:152440445-152440495	AoSMC	blood vessel:	n/a
26	chr2:152440445-152440495	K562	blood:	n/a
27	chr2:152440445-152440495	HCT-116	colon:	n/a
28	chr2:152440445-152440495	HAEpiC	amniotic membrane:	n/a
29	chr2:152440445-152440495	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:152440445-152440495	NB4	blood:	n/a
31	chr2:152440445-152440495	HNPCEpiC	eye:	n/a
32	chr2:152440445-152440495	HL-60	blood:	n/a
33	chr2:152440445-152440495	GM12878	blood:	n/a
34	chr2:152440445-152440495	NH-A	brain:	n/a
35	chr2:152440445-152440495	SK-N-MC	brain:	n/a
36	chr2:152440445-152440495	ECC-1	luminal epithelium:	n/a
37	chr2:152440445-152440495	PrEC	prostate:	n/a
38	chr2:152440445-152440495	AG10803	skin:	n/a
39	chr2:152440445-152440495	IMR90	lung:	fetal
40	chr2:152440445-152440495	CMK	blood:	n/a
41	chr2:152440445-152440495	NT2-D1	testis:	n/a
42	chr2:152440445-152440495	Jurkat	blood:	n/a
43	chr2:152440445-152440495	HCPEpiC	choroid plexus:	n/a
44	chr2:152440445-152440495	BJ	skin:	n/a
45	chr2:152440445-152440495	AG04450	lung:	fetal
46	chr2:152440445-152440495	HEK293	kidney:	embryo
47	chr2:152440445-152440495	AG09319	gingival:	n/a
48	chr2:152440445-152440495	RPTEC	kidney:	n/a
49	chr2:152440445-152440495	HepG2	liver:	n/a
50	chr2:152440445-152440495	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
NEB	TF binding region
NEB	CpG island

Extended variants
information (count: 135 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569276450	chr2:152439687-152439688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538299812	chr2:152439692-152439693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555124282	chr2:152439705-152439706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573859524	chr2:152439737-152439738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536092134	chr2:152439745-152439746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553222973	chr2:152440337-152440338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573104454	chr2:152440355-152440356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545293311	chr2:152440378-152440379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558228679	chr2:152440421-152440422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113736581	chr2:152440454-152440455	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs191354245	chr2:152440458-152440459	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs543874057	chr2:152440504-152440505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368377930	chr2:152440687-152440688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372116910	chr2:152440709-152440710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376718485	chr2:152440750-152440751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530213197	chr2:152440827-152440828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540510741	chr2:152440849-152440850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62174691	chr2:152441339-152441340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144569150	chr2:152443055-152443056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148029966	chr2:152443655-152443656	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62174692	chr2:152444506-152444507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62174693	chr2:152445302-152445303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62174694	chr2:152445308-152445309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62174695	chr2:152445312-152445313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62174696	chr2:152445337-152445338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62174697	chr2:152445403-152445404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62174698	chr2:152445410-152445411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62174699	chr2:152445419-152445420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62174700	chr2:152445588-152445589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141483727	chr2:152445979-152445980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144221335	chr2:152446152-152446153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146323641	chr2:152446331-152446332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200053313	chr2:152446563-152446564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200580970	chr2:152446565-152446566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199798472	chr2:152447334-152447335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112571469	chr2:152447361-152447362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111874021	chr2:152447367-152447368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560836580	chr2:152447783-152447784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201384911	chr2:152447810-152447811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532647648	chr2:152447838-152447839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552843115	chr2:152447839-152447840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200531108	chr2:152447845-152447846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375449933	chr2:152447846-152447847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201732607	chr2:152447903-152447904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569248375	chr2:152447904-152447905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531768093	chr2:152447910-152447911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548687115	chr2:152447918-152447919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536426422	chr2:152447978-152447979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568608277	chr2:152448027-152448028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150664377	chr2:152448233-152448234	Enhancers Weak transcription Genic enhancers Strong 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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:152434200-152448200	Weak transcription	HSMMtube	muscle
3	chr2:152434800-152447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:152434800-152448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:152448200-152448600	Enhancers	Liver	Liver
9	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle
10	chr2:152448400-152448800	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
14	chr2:152460200-152463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas

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