Variant report

Variant	esv1795796
Chromosome Location	chr2:152436051-152477968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:512)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:512 , 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	chr2:152475908-152476156	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:152475918-152476168	K562	blood:	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	chr2:152475782-152476352	K562	blood:	n/a	n/a
7	ATF1	chr2:152470680-152470976	K562	blood:	n/a	n/a
8	ATF3	chr2:152475830-152476205	K562	blood:	n/a	n/a
9	BATF	chr2:152437230-152437561	GM12878	blood:	n/a	n/a
10	BATF	chr2:152447781-152448112	GM12878	blood:	n/a	n/a
11	BATF	chr2:152471516-152471727	GM12878	blood:	n/a	chr2:152471623-152471634
12	BATF	chr2:152458334-152458665	GM12878	blood:	n/a	n/a
13	BATF	chr2:152471501-152471796	GM12878	blood:	n/a	chr2:152471623-152471634
14	BCL11A	chr2:152437248-152437547	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:152447799-152448098	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:152458352-152458651	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	chr2:152475871-152476156	K562	blood:	n/a	n/a
20	CEBPB	chr2:152464307-152464657	K562	blood:	n/a	n/a
21	CEBPB	chr2:152443187-152443552	K562	blood:	n/a	n/a
22	CEBPB	chr2:152475835-152476240	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:152464347-152464575	K562	blood:	n/a	n/a
24	CEBPB	chr2:152453747-152454114	K562	blood:	n/a	n/a
25	CEBPB	chr2:152443242-152443477	K562	blood:	n/a	n/a
26	CEBPB	chr2:152453798-152454061	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	chr2:152475619-152476310	K562	blood:	n/a	n/a
30	CREB1	chr2:152475898-152476212	A549	lung:	n/a	n/a
31	CREB1	chr2:152475686-152476327	HepG2	liver:	n/a	n/a
32	CREB1	chr2:152475837-152476093	A549	lung:	n/a	n/a
33	CREB1	chr2:152475848-152476152	GM12878	blood:	n/a	n/a
34	CREB1	chr2:152475707-152476286	K562	blood:	n/a	n/a
35	CREB1	chr2:152475739-152476185	GM12878	blood:	n/a	n/a
36	CREB1	chr2:152475693-152476263	HepG2	liver:	n/a	n/a
37	CTCF	chr2:152476060-152476210	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr2:152447721-152448208	A549	lung:	n/a	n/a
39	CTCF	chr2:152473480-152473630	HMEC	breast:	n/a	n/a
40	CTCF	chr2:152476000-152476150	HepG2	liver:	n/a	n/a
41	CTCF	chr2:152476000-152476150	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr2:152476080-152476230	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:152476026-152476127	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:152437321-152437587	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:152471220-152471370	A549	lung:	n/a	n/a
46	CTCF	chr2:152476060-152476210	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr2:152476044-152476150	A549	lung:	n/a	n/a
48	CTCF	chr2:152445857-152445884	A549	lung:	n/a	n/a
49	CTCF	chr2:152448460-152448610	RPTEC	kidney:	n/a	n/a
50	CTCF	chr2:152471180-152471330	HEEpiC	esophagus:	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	SAEC	small airway:	n/a
2	chr2:152440445-152440495	HepG2	liver:	n/a
3	chr2:152440445-152440495	HL-60	blood:	n/a
4	chr2:152440445-152440495	K562	blood:	n/a
5	chr2:152440445-152440495	A549	lung:	n/a
6	chr2:152440445-152440495	NHDF-neo	bronchial:	n/a
7	chr2:152440445-152440495	MCF-7	breast:	n/a
8	chr2:152440445-152440495	ECC-1	luminal epithelium:	n/a
9	chr2:152440445-152440495	BJ	skin:	n/a
10	chr2:152440445-152440495	AoSMC	blood vessel:	n/a
11	chr2:152440445-152440495	HCF	heart:	n/a
12	chr2:152440445-152440495	CMK	blood:	n/a
13	chr2:152440445-152440495	HCT-116	colon:	n/a
14	chr2:152440445-152440495	PFSK-1	brain:	n/a
15	chr2:152440445-152440495	HMEC	breast:	n/a
16	chr2:152440445-152440495	GM06990	blood:	n/a
17	chr2:152440445-152440495	IMR90	lung:	fetal
18	chr2:152440445-152440495	HCM	heart:	n/a
19	chr2:152440445-152440495	U87	brain:	n/a
20	chr2:152440445-152440495	HRE	kidney:	n/a
21	chr2:152440445-152440495	HRCEpiC	kidney:	n/a
22	chr2:152440445-152440495	LNCaP	prostate:	n/a
23	chr2:152440445-152440495	PANC-1	pancreas:	n/a
24	chr2:152440445-152440495	T-47D	breast:	n/a
25	chr2:152440445-152440495	PrEC	prostate:	n/a
26	chr2:152440445-152440495	GM12891	blood:	n/a
27	chr2:152440445-152440495	H1-hESC	embryonic stem cell:	embryo
28	chr2:152440445-152440495	SK-N-SH	brain:	n/a
29	chr2:152440445-152440495	HNPCEpiC	eye:	n/a
30	chr2:152440445-152440495	HEK293	kidney:	embryo
31	chr2:152440445-152440495	RPTEC	kidney:	n/a
32	chr2:152440445-152440495	HCPEpiC	choroid plexus:	n/a
33	chr2:152440445-152440495	HRPEpiC	eye:	n/a
34	chr2:152440445-152440495	NT2-D1	testis:	n/a
35	chr2:152440445-152440495	Caco-2	colon:	n/a
36	chr2:152440445-152440495	AG09319	gingival:	n/a
37	chr2:152440445-152440495	Hela-S3	cervix:	n/a
38	chr2:152440445-152440495	HIPEpiC	eye:	n/a
39	chr2:152440445-152440495	GM12878	blood:	n/a
40	chr2:152440445-152440495	HEEpiC	esophagus:	n/a
41	chr2:152440445-152440495	SK-N-SH_RA	brain:	n/a
42	chr2:152440445-152440495	NHBE	bronchial:	n/a
43	chr2:152440445-152440495	ovcar-3	ovarian:	n/a
44	chr2:152440445-152440495	AG04450	lung:	fetal
45	chr2:152440445-152440495	AG04449	skin:	fetal
46	chr2:152440445-152440495	GM12892	blood:	n/a
47	chr2:152440445-152440495	Jurkat	blood:	n/a
48	chr2:152440445-152440495	AG09309	skin:	n/a
49	chr2:152440445-152440495	ProgFib	skin:	n/a
50	chr2:152440445-152440495	Hepatocyte	liver:	n/a

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

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

No data

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

Extended variants
information (count: 769 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567524588	chr2:152436101-152436102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536508687	chr2:152436106-152436107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546992311	chr2:152436107-152436108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577964703	chr2:152436274-152436275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201365821	chr2:152436899-152436900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199650389	chr2:152437054-152437055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200658908	chr2:152437135-152437136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573677087	chr2:152437706-152437707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566828890	chr2:152437752-152437753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561161116	chr2:152437753-152437754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531818635	chr2:152437771-152437772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374879543	chr2:152437832-152437833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558993290	chr2:152437956-152437957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575688720	chr2:152437963-152437964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537240072	chr2:152437980-152437981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367881797	chr2:152437986-152437987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573898757	chr2:152437991-152437992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542916866	chr2:152438012-152438013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559417107	chr2:152438057-152438058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572782313	chr2:152438068-152438069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185166179	chr2:152438126-152438127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189923104	chr2:152438147-152438148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530477924	chr2:152438148-152438149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550272381	chr2:152438160-152438161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182498474	chr2:152438180-152438181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565039008	chr2:152438188-152438189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530250693	chr2:152438197-152438198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528116521	chr2:152438206-152438207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188291055	chr2:152438237-152438238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372122164	chr2:152438419-152438420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539013946	chr2:152438469-152438470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552334918	chr2:152438470-152438471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201767726	chr2:152438480-152438481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569276450	chr2:152439687-152439688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538299812	chr2:152439692-152439693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555124282	chr2:152439705-152439706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573859524	chr2:152439737-152439738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536092134	chr2:152439745-152439746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553222973	chr2:152440337-152440338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573104454	chr2:152440355-152440356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545293311	chr2:152440378-152440379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558228679	chr2:152440421-152440422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113736581	chr2:152440454-152440455	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs191354245	chr2:152440458-152440459	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs543874057	chr2:152440504-152440505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368377930	chr2:152440687-152440688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372116910	chr2:152440709-152440710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376718485	chr2:152440750-152440751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530213197	chr2:152440827-152440828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540510741	chr2:152440849-152440850	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:103 , 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	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:152434200-152448200	Weak transcription	HSMMtube	muscle
4	chr2:152434800-152447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:152434800-152448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:152448200-152448600	Enhancers	Liver	Liver
10	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle
11	chr2:152448400-152448800	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
15	chr2:152460200-152463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
17	chr2:152463800-152464000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:152464000-152466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:152465600-152466600	Enhancers	Liver	Liver
22	chr2:152466000-152467200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:152466200-152469200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:152466200-152469400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:152466200-152469400	Strong transcription	HSMMtube	muscle
26	chr2:152467200-152468200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:152467600-152471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:152467800-152471200	Weak transcription	Primary T cells from cord blood	blood
29	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:152468200-152468800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:152468200-152469400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:152469200-152470600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:152469400-152470400	Weak transcription	HSMMtube	muscle
34	chr2:152469400-152470600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:152469400-152470600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:152470400-152477600	Strong transcription	HSMMtube	muscle
37	chr2:152470600-152471000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:152470600-152472000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:152470600-152472000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:152470600-152472000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:152470600-152472400	Enhancers	HUVEC	blood vessel
42	chr2:152470600-152474000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:152470800-152471000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:152470800-152471400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:152470800-152472000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:152470800-152472000	Enhancers	K562	blood
47	chr2:152471000-152472000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:152471000-152472200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:152471000-152472200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:152471200-152471800	Enhancers	Primary T cells from cord blood	blood

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