Variant report

Variant	nsv456452
Chromosome Location	chr2:40890416-40989061
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	BATF	chr2:40907817-40908050	GM12878	blood:	n/a	chr2:40907839-40907847
2	BHLHE40	chr2:40942910-40943173	HepG2	liver:	n/a	n/a
3	BRCA1	chr2:40987227-40987575	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:40946848-40947123	HepG2	liver:	n/a	chr2:40947008-40947019 chr2:40946984-40946995 chr2:40946972-40946983
5	CEBPB	chr2:40974510-40974854	HepG2	liver:	n/a	chr2:40974678-40974689 chr2:40974678-40974691 chr2:40974680-40974691
6	CEBPB	chr2:40949642-40949969	A549	lung:	n/a	chr2:40949796-40949807
7	CEBPB	chr2:40892639-40893007	Hela-S3	cervix:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
8	CEBPB	chr2:40962030-40962334	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:40892679-40892920	IMR90	lung:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
10	CEBPB	chr2:40892690-40892967	MCF-7	breast:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
11	CEBPB	chr2:40967652-40967923	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:40895579-40896016	A549	lung:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
13	CEBPB	chr2:40949667-40949958	IMR90	lung:	n/a	chr2:40949796-40949807
14	CEBPB	chr2:40977205-40977316	HepG2	liver:	n/a	chr2:40977264-40977275 chr2:40977264-40977277 chr2:40977223-40977236
15	CEBPB	chr2:40949092-40949093	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:40892626-40892989	A549	lung:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
17	CEBPB	chr2:40968734-40969065	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:40895614-40895998	Hela-S3	cervix:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
19	CEBPB	chr2:40949690-40949890	Hela-S3	cervix:	n/a	chr2:40949796-40949807
20	CEBPB	chr2:40944076-40944264	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:40974538-40974785	IMR90	lung:	n/a	chr2:40974678-40974689 chr2:40974678-40974691 chr2:40974680-40974691
22	CEBPB	chr2:40892756-40892843	K562	blood:	n/a	chr2:40892811-40892822 chr2:40892811-40892824
23	CEBPB	chr2:40974566-40974829	A549	lung:	n/a	chr2:40974678-40974689 chr2:40974678-40974691 chr2:40974680-40974691
24	CEBPB	chr2:40949642-40949967	HepG2	liver:	n/a	chr2:40949796-40949807
25	CEBPB	chr2:40895607-40895988	HepG2	liver:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
26	CEBPB	chr2:40963275-40963574	A549	lung:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
27	CEBPB	chr2:40895615-40895975	H1-hESC	embryonic stem cell:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
28	CEBPB	chr2:40963366-40963506	Hela-S3	cervix:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
29	CEBPB	chr2:40895578-40895961	MCF-7	breast:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
30	CEBPB	chr2:40968813-40968994	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:40895715-40895966	ECC-1	luminal epithelium:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
32	CEBPB	chr2:40895618-40895991	IMR90	lung:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
33	CEBPB	chr2:40968759-40969022	MCF-7	breast:	n/a	n/a
34	CEBPB	chr2:40968751-40969049	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:40892684-40892992	H1-hESC	embryonic stem cell:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
36	CEBPB	chr2:40893720-40893812	A549	lung:	n/a	n/a
37	CEBPB	chr2:40895622-40895968	K562	blood:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
38	CEBPB	chr2:40944018-40944325	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:40963294-40963567	IMR90	lung:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
40	CEBPB	chr2:40895669-40895896	HepG2	liver:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
41	CEBPB	chr2:40892625-40893004	HepG2	liver:	n/a	chr2:40892716-40892727 chr2:40892714-40892727 chr2:40892811-40892822 chr2:40892811-40892824
42	CEBPB	chr2:40900745-40900937	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:40895529-40896063	A549	lung:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
44	CEBPB	chr2:40963293-40963612	HepG2	liver:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
45	CEBPB	chr2:40895610-40895987	A549	lung:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
46	CEBPB	chr2:40895660-40895875	HepG2	liver:	n/a	chr2:40895802-40895811 chr2:40895788-40895799 chr2:40895802-40895811 chr2:40895789-40895800 chr2:40895801-40895812 chr2:40895788-40895801 chr2:40895800-40895813 chr2:40895802-40895811
47	CHD1	chr2:40987136-40987989	IMR90	lung:	n/a	n/a
48	CHD2	chr2:40973386-40973611	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr2:40987214-40987511	T-47D	breast:	n/a	chr2:40987388-40987406 chr2:40987383-40987404
50	CTCF	chr2:40986983-40987609	A549	lung:	n/a	chr2:40987388-40987406 chr2:40987383-40987404

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40960283-40960333	PrEC	prostate:	n/a
2	chr2:40960283-40960333	PrEC	prostate:	n/a
3	chr2:40960283-40960333	AG09309	skin:	n/a
4	chr2:40960283-40960333	AG09319	gingival:	n/a
5	chr2:40960283-40960333	HMEC	breast:	n/a
6	chr2:40960283-40960333	BJ	skin:	n/a
7	chr2:40960283-40960333	MCF-7	breast:	n/a
8	chr2:40960283-40960333	NHDF-neo	bronchial:	n/a
9	chr2:40960283-40960333	NT2-D1	testis:	n/a
10	chr2:40960283-40960333	CMK	blood:	n/a
11	chr2:40960283-40960333	ECC-1	luminal epithelium:	n/a
12	chr2:40960283-40960333	Jurkat	blood:	n/a
13	chr2:40960283-40960333	RPTEC	kidney:	n/a
14	chr2:40960283-40960333	SAEC	small airway:	n/a
15	chr2:40960283-40960333	Caco-2	colon:	n/a
16	chr2:40960283-40960333	GM19239	blood:	n/a
17	chr2:40960283-40960333	AG04449	skin:	fetal
18	chr2:40960283-40960333	Hepatocyte	liver:	n/a
19	chr2:40960283-40960333	GM12891	blood:	n/a
20	chr2:40960283-40960333	IMR90	lung:	fetal
21	chr2:40960283-40960333	HCT-116	colon:	n/a
22	chr2:40960283-40960333	Hela-S3	cervix:	n/a
23	chr2:40960283-40960333	HUVEC	blood vessel:	n/a
24	chr2:40960283-40960333	AG04450	lung:	fetal
25	chr2:40960283-40960333	HCPEpiC	choroid plexus:	n/a
26	chr2:40960283-40960333	HCM	heart:	n/a
27	chr2:40960283-40960333	H1-hESC	embryonic stem cell:	embryo
28	chr2:40960283-40960333	MCF10A-Er-Src	breast:	n/a
29	chr2:40960283-40960333	HEEpiC	esophagus:	n/a
30	chr2:40960283-40960333	A549	lung:	n/a
31	chr2:40960283-40960333	GM06990	blood:	n/a
32	chr2:40960283-40960333	NH-A	brain:	n/a
33	chr2:40960283-40960333	HEK293	kidney:	embryo
34	chr2:40960283-40960333	SK-N-SH	brain:	n/a
35	chr2:40960283-40960333	NHBE	bronchial:	n/a
36	chr2:40960283-40960333	GM12878	blood:	n/a
37	chr2:40960283-40960333	HL-60	blood:	n/a
38	chr2:40960283-40960333	AoSMC	blood vessel:	n/a
39	chr2:40960283-40960333	HRCEpiC	kidney:	n/a
40	chr2:40960283-40960333	HepG2	liver:	n/a
41	chr2:40960283-40960333	HRE	kidney:	n/a
42	chr2:40960283-40960333	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:40960283-40960333	NB4	blood:	n/a
44	chr2:40960283-40960333	HAEpiC	amniotic membrane:	n/a
45	chr2:40960283-40960333	AG10803	skin:	n/a
46	chr2:40960283-40960333	LNCaP	prostate:	n/a
47	chr2:40960283-40960333	HIPEpiC	eye:	n/a
48	chr2:40960283-40960333	K562	blood:	n/a
49	chr2:40960283-40960333	ovcar-3	ovarian:	n/a
50	chr2:40960283-40960333	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:
2	chr2:40714227..40715097-chr2:40987004..40987688,2	MCF-7	breast:
3	chr2:40963352..40965233-chr2:40973523..40975129,2	K562	blood:
4	chr2:40715138..40715797-chr2:40986899..40987522,3	MCF-7	breast:
5	chr2:40440009..40440862-chr2:40987001..40987610,3	MCF-7	breast:
6	chr2:40987306..40987876-chr2:41636433..41637186,2	MCF-7	breast:
7	chr2:40140455..40141410-chr2:40986765..40987805,5	MCF-7	breast:
8	chr2:40971002..40972816-chr2:40973492..40975920,2	K562	blood:
9	chr2:40781251..40782481-chr2:40986803..40987748,5	MCF-7	breast:
10	chr2:40986951..40987860-chr2:42009471..42010387,2	MCF-7	breast:
11	chr2:40984676..40988273-chr2:40989890..40992404,3	K562	blood:
12	chr2:40140709..40141329-chr2:40986882..40987436,2	MCF-7	breast:
13	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-3	chr2:40973627-40973792	ENSG00000233128
2	lnc-TMEM178-3	chr2:40982278-40982359	ENSG00000233128
3	lnc-TMEM178-3	chr2:40981706-40981769	ENSG00000233128

Variant related genes	Relation type
ENSG00000233128	TF binding region
ENSG00000233128	CpG island
ENSG00000233128	chromatin interactions

Extended variants
information (count: 3947 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3947 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547582602	chr2:40891202-40891203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149995485	chr2:40891277-40891278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532889474	chr2:40891293-40891294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550943453	chr2:40891305-40891306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569361658	chr2:40891339-40891340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182593906	chr2:40891374-40891375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570424861	chr2:40891420-40891421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550169469	chr2:40891421-40891422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568754458	chr2:40891465-40891466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186769231	chr2:40891482-40891483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533835822	chr2:40891524-40891525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200879191	chr2:40891584-40891585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531892751	chr2:40891632-40891633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs756376	chr2:40891650-40891651	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10187511	chr2:40891660-40891661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558180337	chr2:40891686-40891687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72945736	chr2:40891695-40891696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148732433	chr2:40891701-40891702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561799383	chr2:40891716-40891717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573899375	chr2:40891734-40891735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143695557	chr2:40891771-40891772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146716589	chr2:40891850-40891851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532852703	chr2:40891904-40891905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568168670	chr2:40891907-40891908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191608391	chr2:40891941-40891942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577909843	chr2:40891951-40891952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563408808	chr2:40891960-40891961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530393014	chr2:40892015-40892016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550198359	chr2:40892022-40892023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57625048	chr2:40892025-40892026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568639610	chr2:40892026-40892027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140348120	chr2:40892041-40892042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145547597	chr2:40892053-40892054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566324005	chr2:40892056-40892057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540040763	chr2:40892077-40892078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375928135	chr2:40892088-40892089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558241792	chr2:40892109-40892110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570148394	chr2:40892122-40892123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537019795	chr2:40892148-40892149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555757672	chr2:40892155-40892156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573835892	chr2:40892240-40892241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540965028	chr2:40892266-40892267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552854750	chr2:40892272-40892273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553886777	chr2:40892294-40892295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577379770	chr2:40892302-40892303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544820987	chr2:40892315-40892316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151018159	chr2:40892420-40892421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572158226	chr2:40892431-40892432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369993986	chr2:40892466-40892467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372072646	chr2:40892483-40892484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40891200-40891400	Enhancers	Rectal Smooth Muscle	rectum
2	chr2:40891200-40893600	Enhancers	Colon Smooth Muscle	Colon
3	chr2:40891600-40892600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:40892600-40894200	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:40893000-40893200	Enhancers	Fetal Kidney	kidney
6	chr2:40893200-40895400	Weak transcription	Fetal Kidney	kidney
7	chr2:40893400-40893800	Enhancers	Osteobl	bone
8	chr2:40893400-40894000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:40893400-40894600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:40893600-40893800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:40893600-40894000	Enhancers	HSMMtube	muscle
12	chr2:40893600-40894200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:40893600-40896400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:40893800-40895400	Weak transcription	Osteobl	bone
15	chr2:40894000-40895200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:40894200-40895200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:40894200-40895400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:40894600-40895000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:40895000-40896800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40895000-40896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:40895200-40895600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:40895200-40896400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:40895400-40895600	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:40895400-40895600	Enhancers	Fetal Kidney	kidney
25	chr2:40895400-40895800	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:40895400-40896000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:40895400-40896000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:40895400-40896200	Enhancers	Osteobl	bone
29	chr2:40895400-40896400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:40895400-40896800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:40895400-40896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:40895600-40895800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:40895600-40896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:40895600-40896400	Weak transcription	Fetal Kidney	kidney
35	chr2:40895600-40896600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:40895600-40896800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:40895600-40896800	Enhancers	Dnd41	blood
38	chr2:40896000-40896600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:40896200-40896400	Enhancers	Pancreas	Pancrea
40	chr2:40896200-40896600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:40896200-40896600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr2:40896400-40896800	Enhancers	Colon Smooth Muscle	Colon
43	chr2:40896400-40896800	Enhancers	Fetal Kidney	kidney
44	chr2:40896600-40899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:40899600-40899800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:40900600-40901000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:40902600-40907200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:40903600-40904000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:40905400-40917200	Weak transcription	Aorta	Aorta
50	chr2:40906200-40907600	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links