Variant report

Variant	esv3338615
Chromosome Location	chr1:227738421-227798486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:720)
CpG islands
(count:1589)
Chromatin interactive
region (count:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:227751026-227751349	K562	blood:	n/a	n/a
2	ARID3A	chr1:227751218-227751722	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:227751564-227751877	K562	blood:	n/a	n/a
4	ATF1	chr1:227750981-227751936	K562	blood:	n/a	n/a
5	ATF1	chr1:227757930-227758028	K562	blood:	n/a	n/a
6	ATF2	chr1:227750934-227751647	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:227750900-227751557	GM12878	blood:	n/a	n/a
8	ATF2	chr1:227750761-227751804	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:227750837-227751475	GM12878	blood:	n/a	n/a
10	ATF3	chr1:227750826-227751933	K562	blood:	n/a	n/a
11	ATF3	chr1:227750978-227751298	K562	blood:	n/a	n/a
12	BACH1	chr1:227751203-227751694	K562	blood:	n/a	n/a
13	BACH1	chr1:227751367-227751834	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:227750856-227750913	K562	blood:	n/a	n/a
15	BATF	chr1:227779232-227779394	GM12878	blood:	n/a	n/a
16	BATF	chr1:227750972-227751306	GM12878	blood:	n/a	chr1:227751135-227751146
17	BATF	chr1:227779228-227779391	GM12878	blood:	n/a	n/a
18	BCLAF1	chr1:227751242-227751839	GM12878	blood:	n/a	chr1:227751629-227751642 chr1:227751582-227751595 chr1:227751548-227751561
19	BCLAF1	chr1:227751088-227751681	GM12878	blood:	n/a	chr1:227751629-227751642 chr1:227751582-227751595 chr1:227751548-227751561
20	BHLHE40	chr1:227758115-227758121	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:227751036-227751857	GM12878	blood:	n/a	chr1:227751546-227751562
22	BHLHE40	chr1:227751105-227751654	HepG2	liver:	n/a	chr1:227751546-227751562
23	BHLHE40	chr1:227756385-227756616	HepG2	liver:	n/a	n/a
24	BHLHE40	chr1:227751097-227751887	K562	blood:	n/a	chr1:227751546-227751562
25	BHLHE40	chr1:227760484-227760794	K562	blood:	n/a	n/a
26	BRCA1	chr1:227750874-227751051	GM12878	blood:	n/a	chr1:227750951-227750958
27	BRCA1	chr1:227751268-227751740	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:227774440-227774553	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr1:227783852-227784220	K562	blood:	n/a	n/a
30	CBX3	chr1:227760385-227760817	K562	blood:	n/a	n/a
31	CBX3	chr1:227750790-227751970	K562	blood:	n/a	n/a
32	CBX3	chr1:227760352-227760912	K562	blood:	n/a	n/a
33	CBX3	chr1:227783870-227784326	K562	blood:	n/a	n/a
34	CBX3	chr1:227750618-227752062	K562	blood:	n/a	n/a
35	CCNT2	chr1:227750844-227751880	K562	blood:	n/a	chr1:227751539-227751548
36	CCNT2	chr1:227760472-227760780	K562	blood:	n/a	chr1:227760621-227760641
37	CEBPB	chr1:227783994-227784308	K562	blood:	n/a	n/a
38	CEBPB	chr1:227756380-227756667	K562	blood:	n/a	chr1:227756526-227756537
39	CEBPB	chr1:227790023-227790250	HepG2	liver:	n/a	chr1:227790129-227790142 chr1:227790129-227790140 chr1:227790131-227790142
40	CEBPB	chr1:227751049-227751265	K562	blood:	n/a	n/a
41	CEBPB	chr1:227756347-227756700	HepG2	liver:	n/a	chr1:227756526-227756537
42	CEBPB	chr1:227754305-227754407	IMR90	lung:	n/a	n/a
43	CEBPB	chr1:227790041-227790252	A549	lung:	n/a	chr1:227790129-227790142 chr1:227790129-227790140 chr1:227790131-227790142
44	CEBPB	chr1:227760569-227760646	K562	blood:	n/a	n/a
45	CEBPB	chr1:227754231-227754454	A549	lung:	n/a	n/a
46	CEBPB	chr1:227751278-227751734	HepG2	liver:	n/a	n/a
47	CEBPD	chr1:227751170-227751572	HepG2	liver:	n/a	n/a
48	CEBPD	chr1:227783957-227784309	K562	blood:	n/a	n/a
49	CEBPD	chr1:227750990-227752002	K562	blood:	n/a	n/a
50	CEBPD	chr1:227760425-227760942	K562	blood:	n/a	n/a

(count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227751318-227751368	NB4	blood:	n/a
2	chr1:227750892-227750942	LNCaP	prostate:	n/a
3	chr1:227746294-227746344	HNPCEpiC	eye:	n/a
4	chr1:227751318-227751368	NB4	blood:	n/a
5	chr1:227750892-227750942	LNCaP	prostate:	n/a
6	chr1:227746294-227746344	HNPCEpiC	eye:	n/a
7	chr1:227747468-227747518	H1-hESC	embryonic stem cell:	embryo
8	chr1:227748424-227748474	T-47D	breast:	n/a
9	chr1:227751612-227751662	A549	lung:	n/a
10	chr1:227748712-227748762	HCM	heart:	n/a
11	chr1:227751555-227751605	K562	blood:	n/a
12	chr1:227748424-227748474	SK-N-SH	brain:	n/a
13	chr1:227751555-227751605	HRPEpiC	eye:	n/a
14	chr1:227748442-227748492	HepG2	liver:	n/a
15	chr1:227748712-227748762	HepG2	liver:	n/a
16	chr1:227751612-227751662	BJ	skin:	n/a
17	chr1:227748424-227748474	A549	lung:	n/a
18	chr1:227751228-227751278	SKMC	muscle:	n/a
19	chr1:227746191-227746241	HepG2	liver:	n/a
20	chr1:227751228-227751278	HNPCEpiC	eye:	n/a
21	chr1:227751018-227751068	NT2-D1	testis:	n/a
22	chr1:227754452-227754502	HepG2	liver:	n/a
23	chr1:227751251-227751301	HCM	heart:	n/a
24	chr1:227748424-227748474	ECC-1	luminal epithelium:	n/a
25	chr1:227751290-227751340	SK-N-SH_RA	brain:	n/a
26	chr1:227751214-227751264	Jurkat	blood:	n/a
27	chr1:227748712-227748762	GM12892	blood:	n/a
28	chr1:227750970-227751020	PrEC	prostate:	n/a
29	chr1:227751318-227751368	NH-A	brain:	n/a
30	chr1:227746453-227746503	Jurkat	blood:	n/a
31	chr1:227748712-227748762	AG04450	lung:	fetal
32	chr1:227751290-227751340	ProgFib	skin:	n/a
33	chr1:227750892-227750942	HAEpiC	amniotic membrane:	n/a
34	chr1:227751410-227751460	K562	blood:	n/a
35	chr1:227751251-227751301	CMK	blood:	n/a
36	chr1:227751318-227751368	CMK	blood:	n/a
37	chr1:227751290-227751340	GM12892	blood:	n/a
38	chr1:227748424-227748474	U87	brain:	n/a
39	chr1:227753056-227753106	HCT-116	colon:	n/a
40	chr1:227751612-227751662	NB4	blood:	n/a
41	chr1:227747468-227747518	GM06990	blood:	n/a
42	chr1:227746111-227746161	HCF	heart:	n/a
43	chr1:227748719-227748769	HCT-116	colon:	n/a
44	chr1:227746191-227746241	K562	blood:	n/a
45	chr1:227750857-227750907	GM12891	blood:	n/a
46	chr1:227748424-227748474	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:227751555-227751605	U87	brain:	n/a
48	chr1:227748712-227748762	RPTEC	kidney:	n/a
49	chr1:227746882-227746932	RPTEC	kidney:	n/a
50	chr1:227751251-227751301	SAEC	small airway:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227789234..227791365-chr1:227793574..227795115,2	K562	blood:
2	chr1:227767226..227769814-chr1:227770248..227772241,2	K562	blood:
3	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
4	chr1:227791876..227793589-chr1:227795199..227797035,2	MCF-7	breast:
5	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:
6	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
7	chr1:227767723..227770508-chr1:227774778..227776968,2	K562	blood:
8	chr1:227751314..227753059-chr1:227774179..227776637,2	K562	blood:
9	chr1:227746809..227749278-chr1:227751802..227753794,2	K562	blood:
10	chr1:227797816..227799614-chr1:227803015..227804639,2	MCF-7	breast:
11	chr1:227789234..227791365-chr1:227793574..227795115,2	K562	blood:
12	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:
13	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:
14	chr1:227746379..227748088-chr1:227771119..227773064,2	K562	blood:
15	chr1:227126771..227129566-chr1:227749760..227753054,3	K562	blood:
16	chr1:227737106..227739349-chr1:227745881..227748308,2	K562	blood:
17	chr1:227767723..227770508-chr1:227774778..227776968,2	K562	blood:
18	chr1:227733965..227736657-chr1:227743143..227745274,2	K562	blood:
19	chr1:227798107..227799678-chr1:227830599..227832461,2	K562	blood:
20	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:
21	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
22	chr1:227735428..227737258-chr1:227773777..227776402,2	K562	blood:
23	chr1:227786695..227788345-chr1:227795346..227798093,2	K562	blood:
24	chr1:227791876..227793589-chr1:227795199..227797035,2	MCF-7	breast:
25	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:
26	chr1:227758119..227760802-chr16:33923322..33925835,2	MCF-7	breast:
27	chr1:227749492..227753045-chr1:227768009..227771848,3	K562	blood:
28	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
29	chr1:227754198..227755750-chr1:227920040..227921876,2	K562	blood:
30	chr1:227746379..227748088-chr1:227771119..227773064,2	K562	blood:
31	chr1:227750485..227753140-chr1:227776941..227779437,2	K562	blood:
32	chr1:227747297..227750908-chr1:227767756..227771118,3	K562	blood:
33	chr1:227751314..227753059-chr1:227774179..227776637,2	K562	blood:
34	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
35	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:
36	chr1:227737106..227739349-chr1:227745881..227748308,2	K562	blood:
37	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
38	chr1:227750097..227752403-chr1:227761734..227764145,2	K562	blood:
39	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:
40	chr1:227767226..227769814-chr1:227770248..227772241,2	K562	blood:
41	chr1:227749843..227751616-chr1:227752949..227754872,2	K562	blood:
42	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
43	chr1:227727749..227729472-chr1:227739111..227740675,2	K562	blood:
44	chr1:227770918..227773838-chr1:227849267..227851586,2	K562	blood:
45	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
46	chr1:227746078..227748822-chr1:227750543..227752863,2	MCF-7	breast:
47	chr1:227769896..227772528-chr12:68989932..68992642,2	K562	blood:
48	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
49	chr1:227750211..227752851-chr1:227914757..227917634,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD4-3	chr1:227786125-227786795	NONHSAT009929

No data

Variant related genes	Relation type
ZNF678	TF binding region
ENSG00000225934	TF binding region
RNA5SP77	TF binding region
ZNF678	CpG island
ENSG00000225934	CpG island
RNA5SP77	CpG island
ENSG00000181450	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000163050	chromatin interactions
ENSG00000202264	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000225934	chromatin interactions

Extended variants
information (count: 2297 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2297 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539766188	chr1:227738461-227738462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143108852	chr1:227738469-227738470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183469616	chr1:227738492-227738493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57165550	chr1:227738506-227738507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186778362	chr1:227738507-227738508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373582171	chr1:227738581-227738582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138866657	chr1:227738602-227738603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377032067	chr1:227738609-227738610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191561725	chr1:227738612-227738613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531185505	chr1:227738624-227738625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182814234	chr1:227738708-227738709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1845757	chr1:227738754-227738755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs528705232	chr1:227738755-227738756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532411813	chr1:227738762-227738763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546668433	chr1:227738830-227738831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568576589	chr1:227738867-227738868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146313573	chr1:227738876-227738877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1845758	chr1:227738930-227738931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559450909	chr1:227738957-227738958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569161175	chr1:227738964-227738965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187096978	chr1:227739036-227739037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191531915	chr1:227739080-227739081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182154284	chr1:227739112-227739113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534011255	chr1:227739150-227739151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555287024	chr1:227739156-227739157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368257022	chr1:227739212-227739213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573651719	chr1:227739214-227739215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187945398	chr1:227739217-227739218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528283023	chr1:227739226-227739227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556081418	chr1:227739242-227739243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577256338	chr1:227739271-227739272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74579475	chr1:227739307-227739308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76910337	chr1:227739315-227739316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564470775	chr1:227739388-227739389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376543351	chr1:227739415-227739416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568109733	chr1:227739447-227739448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537029205	chr1:227739521-227739522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193215997	chr1:227739525-227739526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573829729	chr1:227739567-227739568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540396510	chr1:227739623-227739624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150697068	chr1:227739646-227739647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185194760	chr1:227739650-227739651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190429207	chr1:227739775-227739776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570129839	chr1:227739781-227739782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550805933	chr1:227739824-227739825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192888845	chr1:227739839-227739840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533140827	chr1:227739846-227739847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118167074	chr1:227739861-227739862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12093785	chr1:227739885-227739886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12094879	chr1:227739886-227739887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227731000-227748400	Weak transcription	Right Atrium	heart
2	chr1:227731200-227739000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:227734600-227738600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:227738000-227738600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr1:227743800-227744200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:227744000-227744400	Enhancers	Stomach Mucosa	stomach
7	chr1:227744200-227744400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:227746000-227746600	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr1:227746000-227746600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:227746200-227746400	ZNF genes & repeats	Spleen	Spleen
11	chr1:227746200-227746800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:227746200-227747400	Active TSS	Placenta Amnion	Placenta Amnion
13	chr1:227746200-227747600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr1:227746200-227747800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:227746400-227746600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:227746400-227747400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr1:227746400-227749200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:227746400-227749200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227746400-227751200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:227746600-227746800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:227746600-227747000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
22	chr1:227746600-227747000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr1:227746600-227747000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:227746600-227749800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:227746800-227747000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr1:227746800-227747000	Bivalent Enhancer	Fetal Thymus	thymus
27	chr1:227746800-227747400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:227747000-227747200	Enhancers	Pancreas	Pancrea
29	chr1:227747000-227747600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr1:227747000-227748400	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr1:227747000-227748400	Bivalent Enhancer	Fetal Heart	heart
32	chr1:227747000-227749000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:227747200-227747400	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr1:227747200-227747400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr1:227747200-227747600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:227747200-227747600	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr1:227747200-227747800	Weak transcription	Pancreas	Pancrea
38	chr1:227747200-227749000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr1:227747400-227747600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr1:227747400-227747600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:227747400-227747600	Flanking Active TSS	Right Ventricle	heart
42	chr1:227747400-227747800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:227747400-227748600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
44	chr1:227747600-227747800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr1:227747600-227747800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr1:227747600-227747800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr1:227747600-227747800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:227747600-227748000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:227747600-227748000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr1:227747600-227748000	Bivalent Enhancer	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links