Variant report

Variant	esv3345801
Chromosome Location	chr1:166943803-166945951
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	ATF3	chr1:166944762-166944996	K562	blood:	n/a	n/a
2	BACH1	chr1:166944785-166945212	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:166944724-166945072	HepG2	liver:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
4	BHLHE40	chr1:166944685-166945110	GM12878	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
5	BHLHE40	chr1:166944672-166945203	K562	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
6	CCNT2	chr1:166944669-166945073	K562	blood:	n/a	n/a
7	CHD2	chr1:166944965-166945283	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:166944678-166944927	GM19238	blood:	n/a	chr1:166944883-166944896
9	CTCF	chr1:166944721-166944889	GM13977	blood:	n/a	n/a
10	CTCF	chr1:166944733-166944872	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:166944720-166944870	GM12874	blood:	n/a	n/a
12	CTCF	chr1:166944720-166944870	GM12869	blood:	n/a	n/a
13	CTCF	chr1:166944613-166944976	K562	blood:	n/a	chr1:166944883-166944896
14	CTCF	chr1:166944740-166944890	HEK293	kidney:	n/a	n/a
15	CTCF	chr1:166945160-166945310	GM12867	blood:	n/a	n/a
16	CTCF	chr1:166944712-166944916	K562	blood:	n/a	chr1:166944883-166944896
17	CTCF	chr1:166944737-166944896	Spleen_OC	spleen:	n/a	chr1:166944883-166944896
18	CTCF	chr1:166944740-166944925	Kidney_OC	kidney:	n/a	chr1:166944883-166944896
19	CTCF	chr1:166944687-166944923	MCF-7	breast:	n/a	chr1:166944883-166944896
20	CTCF	chr1:166944723-166944888	GM10248	blood:	n/a	n/a
21	CTCF	chr1:166944960-166945110	HepG2	liver:	n/a	n/a
22	CTCF	chr1:166944669-166944945	GM19240	blood:	n/a	chr1:166944883-166944896
23	CTCF	chr1:166944740-166944890	GM12871	blood:	n/a	n/a
24	CTCF	chr1:166944674-166944876	HepG2	liver:	n/a	n/a
25	CTCF	chr1:166944680-166944830	GM12867	blood:	n/a	n/a
26	CTCF	chr1:166944620-166944941	K562	blood:	n/a	chr1:166944883-166944896
27	CTCF	chr1:166944726-166944991	K562	blood:	n/a	chr1:166944883-166944896
28	CTCF	chr1:166944757-166944846	Gliobla	brain:	n/a	n/a
29	CTCF	chr1:166945340-166945490	NHLF	lung:	n/a	n/a
30	CTCF	chr1:166944700-166944850	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:166944720-166944870	GM12871	blood:	n/a	n/a
32	CTCF	chr1:166944840-166944990	GM12873	blood:	n/a	chr1:166944883-166944896
33	CTCF	chr1:166944661-166944953	GM12878	blood:	n/a	chr1:166944883-166944896
34	CTCF	chr1:166944780-166944930	GM12865	blood:	n/a	chr1:166944883-166944896
35	CTCF	chr1:166944719-166944895	NHEK	skin:	n/a	n/a
36	CTCF	chr1:166944682-166944924	MCF-7	breast:	n/a	chr1:166944883-166944896
37	CTCF	chr1:166944694-166944893	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr1:166944683-166944940	LNCaP	prostate:	n/a	chr1:166944883-166944896
39	CTCF	chr1:166944695-166944915	MCF-7	breast:	n/a	chr1:166944883-166944896
40	CTCF	chr1:166944736-166944894	GM13976	blood:	n/a	n/a
41	CTCF	chr1:166944720-166944870	HMEC	breast:	n/a	n/a
42	CTCF	chr1:166944720-166944870	GM12875	blood:	n/a	n/a
43	CTCF	chr1:166944702-166944887	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:166944699-166944930	GM12891	blood:	n/a	chr1:166944883-166944896
45	CTCF	chr1:166944700-166944958	GM12892	blood:	n/a	chr1:166944883-166944896
46	CTCF	chr1:166944735-166944880	ProgFib	skin:	n/a	n/a
47	CTCF	chr1:166944478-166945328	SK-N-SH	brain:	n/a	chr1:166944883-166944896
48	CTCF	chr1:166944742-166944874	GM12878	blood:	n/a	n/a
49	CTCF	chr1:166944740-166944890	GM12870	blood:	n/a	n/a
50	CTCF	chr1:166944880-166945030	GM12872	blood:	n/a	chr1:166944883-166944896

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166945234-166945284	SK-N-MC	brain:	n/a
2	chr1:166944393-166944443	U87	brain:	n/a
3	chr1:166944830-166944880	ECC-1	luminal epithelium:	n/a
4	chr1:166945234-166945284	K562	blood:	n/a
5	chr1:166944395-166944445	SKMC	muscle:	n/a
6	chr1:166945157-166945207	U87	brain:	n/a
7	chr1:166944856-166944906	SKMC	muscle:	n/a
8	chr1:166944395-166944445	PANC-1	pancreas:	n/a
9	chr1:166945234-166945284	NT2-D1	testis:	n/a
10	chr1:166945234-166945284	HAEpiC	amniotic membrane:	n/a
11	chr1:166944856-166944906	AG04449	skin:	fetal
12	chr1:166944856-166944906	SK-N-SH_RA	brain:	n/a
13	chr1:166944393-166944443	HepG2	liver:	n/a
14	chr1:166944830-166944880	AG09319	gingival:	n/a
15	chr1:166944395-166944445	MCF10A-Er-Src	breast:	n/a
16	chr1:166945157-166945207	NHBE	bronchial:	n/a
17	chr1:166944830-166944880	GM06990	blood:	n/a
18	chr1:166944395-166944445	SK-N-SH	brain:	n/a
19	chr1:166944395-166944445	NHBE	bronchial:	n/a
20	chr1:166944393-166944443	ovcar-3	ovarian:	n/a
21	chr1:166944856-166944906	PANC-1	pancreas:	n/a
22	chr1:166944830-166944880	ProgFib	skin:	n/a
23	chr1:166944393-166944443	ECC-1	luminal epithelium:	n/a
24	chr1:166945157-166945207	IMR90	lung:	fetal
25	chr1:166945157-166945207	AG09319	gingival:	n/a
26	chr1:166944856-166944906	HUVEC	blood vessel:	n/a
27	chr1:166944393-166944443	HCM	heart:	n/a
28	chr1:166945234-166945284	HEK293	kidney:	embryo
29	chr1:166944395-166944445	HCF	heart:	n/a
30	chr1:166944830-166944880	ovcar-3	ovarian:	n/a
31	chr1:166944856-166944906	K562	blood:	n/a
32	chr1:166944856-166944906	ovcar-3	ovarian:	n/a
33	chr1:166944830-166944880	SKMC	muscle:	n/a
34	chr1:166944395-166944445	HUVEC	blood vessel:	n/a
35	chr1:166945157-166945207	SK-N-MC	brain:	n/a
36	chr1:166944393-166944443	GM12892	blood:	n/a
37	chr1:166945234-166945284	HNPCEpiC	eye:	n/a
38	chr1:166944856-166944906	HRCEpiC	kidney:	n/a
39	chr1:166944393-166944443	MCF-7	breast:	n/a
40	chr1:166945157-166945207	A549	lung:	n/a
41	chr1:166945234-166945284	HL-60	blood:	n/a
42	chr1:166944393-166944443	GM12878	blood:	n/a
43	chr1:166944395-166944445	NHDF-neo	bronchial:	n/a
44	chr1:166944393-166944443	PANC-1	pancreas:	n/a
45	chr1:166944856-166944906	A549	lung:	n/a
46	chr1:166944395-166944445	SAEC	small airway:	n/a
47	chr1:166944395-166944445	U87	brain:	n/a
48	chr1:166945234-166945284	SAEC	small airway:	n/a
49	chr1:166944393-166944443	T-47D	breast:	n/a
50	chr1:166944830-166944880	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166945300..166947626-chr1:166953556..166955132,2	K562	blood:

Variant related genes	Relation type
ILDR2	TF binding region
ILDR2	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367893511	chr1:166943812-166943813	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138425082	chr1:166943845-166943846	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544520221	chr1:166943931-166943932	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566906716	chr1:166943943-166943944	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537483614	chr1:166943950-166943951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556177558	chr1:166943958-166943959	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577673428	chr1:166943985-166943986	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561124085	chr1:166944006-166944007	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113769398	chr1:166944050-166944051	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111342815	chr1:166944089-166944090	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572300931	chr1:166944097-166944098	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7533688	chr1:166944123-166944124	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561209972	chr1:166944184-166944185	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531737651	chr1:166944228-166944229	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543453844	chr1:166944241-166944242	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565336340	chr1:166944251-166944252	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373617709	chr1:166944257-166944258	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375961719	chr1:166944271-166944272	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376027071	chr1:166944272-166944273	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12116418	chr1:166944273-166944274	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs67253020	chr1:166944274-166944275	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547940933	chr1:166944369-166944370	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565911661	chr1:166944383-166944384	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371146472	chr1:166944413-166944414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201304421	chr1:166944418-166944419	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375367498	chr1:166944425-166944426	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368256836	chr1:166944456-166944457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548463792	chr1:166944482-166944483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372243769	chr1:166944514-166944515	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377239117	chr1:166944552-166944553	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570059538	chr1:166944561-166944562	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs537808889	chr1:166944572-166944573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549526856	chr1:166944578-166944579	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571293603	chr1:166944592-166944593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538335487	chr1:166944624-166944625	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553946193	chr1:166944733-166944734	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112416021	chr1:166944745-166944746	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs186023662	chr1:166944809-166944810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563782122	chr1:166944812-166944813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111343466	chr1:166944816-166944817	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576264751	chr1:166944855-166944856	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs529639123	chr1:166944890-166944891	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs393025	chr1:166944928-166944929	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs372324663	chr1:166944952-166944953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73026749	chr1:166945046-166945047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541110069	chr1:166945074-166945075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190930105	chr1:166945106-166945107	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs453395	chr1:166945128-166945129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs114920766	chr1:166945160-166945161	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs563605389	chr1:166945200-166945201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166941600-166944000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:166941800-166944000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr1:166941800-166945400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:166942200-166945800	Active TSS	Fetal Brain Female	brain
5	chr1:166942400-166944000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr1:166942400-166944200	Weak transcription	Spleen	Spleen
7	chr1:166943000-166944000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:166943000-166944000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
9	chr1:166943000-166944000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:166943000-166944000	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr1:166943000-166944200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:166943000-166944400	Flanking Active TSS	Dnd41	blood
13	chr1:166943000-166944400	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:166943200-166945400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:166943200-166945400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:166943200-166945600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:166943400-166944000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr1:166943400-166944000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:166943400-166944000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:166943400-166944000	Bivalent Enhancer	HSMM	muscle
21	chr1:166943400-166944200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:166943400-166944200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr1:166943400-166946000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:166943600-166944000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:166943600-166944000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:166943600-166944000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:166943600-166944000	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr1:166943600-166944000	Bivalent Enhancer	Fetal Kidney	kidney
29	chr1:166943600-166944000	Enhancers	Left Ventricle	heart
30	chr1:166943600-166944000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:166943600-166944200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:166943600-166944200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
33	chr1:166943600-166944200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:166943600-166944200	Enhancers	Lung	lung
35	chr1:166943600-166944200	Bivalent/Poised TSS	NH-A	brain
36	chr1:166943600-166944600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr1:166943600-166945800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:166943800-166944000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr1:166943800-166944000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
40	chr1:166943800-166944000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr1:166943800-166944000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr1:166943800-166944000	Bivalent Enhancer	Primary B cells from cord blood	blood
43	chr1:166943800-166944000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:166943800-166944000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:166943800-166944000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr1:166943800-166944000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:166943800-166944000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:166943800-166944000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:166943800-166944000	Active TSS	Brain Germinal Matrix	brain
50	chr1:166943800-166944000	Flanking Active TSS	Brain Substantia Nigra	brain

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