Variant report

Variant	nsv535699
Chromosome Location	chr2:50981913-51226370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr2:51080893-51081164	Hela-S3	cervix:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
9	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
10	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
11	CEBPB	chr2:51185019-51185391	H1-hESC	embryonic stem cell:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
12	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
13	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
14	CEBPB	chr2:51080882-51081169	HepG2	liver:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
15	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
16	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
18	CEBPB	chr2:51051532-51051664	HepG2	liver:	n/a	chr2:51051618-51051629 chr2:51051616-51051627 chr2:51051616-51051629
19	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
20	CEBPB	chr2:51180205-51180442	H1-hESC	embryonic stem cell:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
21	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
22	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
24	CEBPB	chr2:51185008-51185377	MCF-7	breast:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
25	CEBPB	chr2:51184978-51185335	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
26	CEBPB	chr2:51042082-51042350	A549	lung:	n/a	chr2:51042175-51042186
27	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
28	CEBPB	chr2:51042035-51042364	HepG2	liver:	n/a	chr2:51042175-51042186
29	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
30	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
31	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
32	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
33	CEBPB	chr2:51185063-51185361	K562	blood:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
34	CEBPB	chr2:51003545-51003679	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:51039958-51040191	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:51077720-51078095	HepG2	liver:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
37	CEBPB	chr2:51185035-51185357	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
38	CEBPB	chr2:51077727-51078088	H1-hESC	embryonic stem cell:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
39	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
40	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
41	CEBPB	chr2:51180081-51180588	ECC-1	luminal epithelium:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
42	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
43	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
44	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:51185014-51185411	Hela-S3	cervix:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
46	CEBPB	chr2:51080873-51081218	IMR90	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
47	CEBPB	chr2:51185077-51185269	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185201-51185210 chr2:51185201-51185210
48	CEBPB	chr2:51185020-51185401	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
49	CEBPB	chr2:51080924-51081178	H1-hESC	embryonic stem cell:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
50	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51057548-51057598	T-47D	breast:	n/a
2	chr2:51057548-51057598	T-47D	breast:	n/a
3	chr2:51218880-51218930	AoSMC	blood vessel:	n/a
4	chr2:51056822-51056872	HMEC	breast:	n/a
5	chr2:51065673-51065723	A549	lung:	n/a
6	chr2:51057218-51057268	GM12878	blood:	n/a
7	chr2:51057218-51057268	HMEC	breast:	n/a
8	chr2:51057218-51057268	AG10803	skin:	n/a
9	chr2:51001003-51001053	NHBE	bronchial:	n/a
10	chr2:51056822-51056872	MCF-7	breast:	n/a
11	chr2:51001003-51001053	T-47D	breast:	n/a
12	chr2:51218880-51218930	SK-N-MC	brain:	n/a
13	chr2:51074939-51074989	HIPEpiC	eye:	n/a
14	chr2:51218880-51218930	HUVEC	blood vessel:	n/a
15	chr2:51074939-51074989	GM06990	blood:	n/a
16	chr2:51065673-51065723	NHDF-neo	bronchial:	n/a
17	chr2:51056822-51056872	BE2_C	brain:	n/a
18	chr2:51057548-51057598	PrEC	prostate:	n/a
19	chr2:51074881-51074931	HAEpiC	amniotic membrane:	n/a
20	chr2:51057548-51057598	GM06990	blood:	n/a
21	chr2:50992829-50992879	NHBE	bronchial:	n/a
22	chr2:51056822-51056872	NB4	blood:	n/a
23	chr2:51057548-51057598	Hepatocyte	liver:	n/a
24	chr2:51074881-51074931	H1-hESC	embryonic stem cell:	embryo
25	chr2:51074939-51074989	SK-N-SH_RA	brain:	n/a
26	chr2:51056884-51056934	ECC-1	luminal epithelium:	n/a
27	chr2:51056884-51056934	LNCaP	prostate:	n/a
28	chr2:50992829-50992879	HepG2	liver:	n/a
29	chr2:51056884-51056934	CMK	blood:	n/a
30	chr2:51065673-51065723	NH-A	brain:	n/a
31	chr2:51057218-51057268	MCF10A-Er-Src	breast:	n/a
32	chr2:51056884-51056934	MCF-7	breast:	n/a
33	chr2:51074939-51074989	HEK293	kidney:	embryo
34	chr2:51065673-51065723	NHBE	bronchial:	n/a
35	chr2:50992829-50992879	CMK	blood:	n/a
36	chr2:51065673-51065723	HMEC	breast:	n/a
37	chr2:51001003-51001053	HUVEC	blood vessel:	n/a
38	chr2:51065673-51065723	NB4	blood:	n/a
39	chr2:51057548-51057598	HCT-116	colon:	n/a
40	chr2:50992829-50992879	HNPCEpiC	eye:	n/a
41	chr2:51065673-51065723	HAEpiC	amniotic membrane:	n/a
42	chr2:51001003-51001053	HL-60	blood:	n/a
43	chr2:51056822-51056872	HCT-116	colon:	n/a
44	chr2:50992829-50992879	NT2-D1	testis:	n/a
45	chr2:51056822-51056872	HepG2	liver:	n/a
46	chr2:51057218-51057268	HRE	kidney:	n/a
47	chr2:51074881-51074931	NH-A	brain:	n/a
48	chr2:51065673-51065723	HEK293	kidney:	embryo
49	chr2:51056822-51056872	SK-N-MC	brain:	n/a
50	chr2:51074939-51074989	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
2	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
3	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
4	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
5	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
6	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
7	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
8	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
9	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
10	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
11	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
12	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
13	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
14	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
15	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
16	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
17	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
18	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSHR-5	chr2:51056580-51056816	NONHSAT070648

Variant related genes	Relation type
ENSG00000238165	TF binding region
ENSG00000215968	TF binding region
ENSG00000216011	TF binding region
ENSG00000272385	TF binding region
ENSG00000238165	CpG island
ENSG00000215968	CpG island
ENSG00000216011	CpG island
ENSG00000272385	CpG island

Extended variants
information (count: 9250 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:9250 , 50 per page) page: 1 2 3 4 5 6 7 ... 185

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546926460	chr2:50981936-50981937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555669766	chr2:50981940-50981941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184580926	chr2:50982001-50982002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149710785	chr2:50982081-50982082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537797502	chr2:50982108-50982109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556194549	chr2:50982114-50982115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555718177	chr2:50982120-50982121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188946260	chr2:50982136-50982137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560222760	chr2:50982143-50982144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537086411	chr2:50982182-50982183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573331030	chr2:50982185-50982186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556700237	chr2:50982205-50982206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540443688	chr2:50982216-50982217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562004379	chr2:50982260-50982261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182216750	chr2:50982275-50982276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544551062	chr2:50982294-50982295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575623760	chr2:50982300-50982301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533397397	chr2:50982309-50982310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76268109	chr2:50982318-50982319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551560900	chr2:50982385-50982386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566975459	chr2:50982414-50982415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527459012	chr2:50982445-50982446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576846134	chr2:50982489-50982490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185805027	chr2:50982494-50982495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575561036	chr2:50982573-50982574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190328847	chr2:50982608-50982609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146763615	chr2:50982675-50982676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556534519	chr2:50982689-50982690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140370482	chr2:50982698-50982699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538651558	chr2:50982708-50982709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553553553	chr2:50982757-50982758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572117388	chr2:50982771-50982772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368747732	chr2:50982831-50982832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181056807	chr2:50982860-50982861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145547951	chr2:50982891-50982892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146560329	chr2:50982906-50982907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545919853	chr2:50982911-50982912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544485962	chr2:50982920-50982921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563222873	chr2:50982925-50982926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533144442	chr2:50983018-50983019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545398938	chr2:50983042-50983043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559546066	chr2:50983063-50983064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114494520	chr2:50983065-50983066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373363742	chr2:50983072-50983073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549541685	chr2:50983080-50983081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116636925	chr2:50983086-50983087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531566648	chr2:50983108-50983109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549780926	chr2:50983118-50983119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113296608	chr2:50983166-50983167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17041014	chr2:50983186-50983187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	17989066	CNVD
Autism	19404257	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50976200-50982800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:50976600-50983200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:50977000-50982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:50977400-50983600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:50977400-50984400	Enhancers	Fetal Brain Female	brain
6	chr2:50978400-50984400	Enhancers	Fetal Brain Male	brain
7	chr2:50979200-50982200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:50979200-50982200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:50979600-50982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:50980800-50982000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:50980800-50984000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:50981200-50983400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:50981800-50982600	Enhancers	Brain Germinal Matrix	brain
14	chr2:50982000-50983200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:50982200-50982400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:50982200-50982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:50982200-50982600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:50982400-50982600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:50982600-50983400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:50982600-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:50982800-50983000	Enhancers	Brain Substantia Nigra	brain
22	chr2:50983000-50983200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:50983000-50983600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:50983200-50983400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:50983200-50983600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:50983200-50991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:50983200-50996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:50983400-50983600	Enhancers	Brain Germinal Matrix	brain
29	chr2:50983400-50983800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:50983600-50983800	Enhancers	Brain Hippocampus Middle	brain
31	chr2:50983600-50983800	Enhancers	Brain Substantia Nigra	brain
32	chr2:50983800-50984200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:50984000-50984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:50990800-50991200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:50991200-50991800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:50991200-50992200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:50991200-50992600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:50991400-50993400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:50991800-50993000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:50991800-50993400	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:50991800-50997000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:50992000-50993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:50992000-50993000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:50992200-50992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:50992200-50992800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:50992200-50993400	Enhancers	Fetal Kidney	kidney
47	chr2:50992400-50992600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:50992400-50993000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:50992600-50992800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:50992600-50993000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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