Variant report

Variant	esv1802502
Chromosome Location	chr1:224076065-224184733
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	ARID3A	chr1:224124412-224124623	K562	blood:	n/a	n/a
2	ARID3A	chr1:224119208-224119671	K562	blood:	n/a	n/a
3	ARID3A	chr1:224180236-224180463	HepG2	liver:	n/a	n/a
4	ATF1	chr1:224180104-224180596	K562	blood:	n/a	n/a
5	ATF1	chr1:224119207-224119478	K562	blood:	n/a	n/a
6	ATF2	chr1:224180114-224180475	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
7	ATF2	chr1:224180111-224180616	GM12878	blood:	n/a	chr1:224180344-224180355
8	ATF2	chr1:224180127-224180483	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
9	ATF2	chr1:224180121-224180542	GM12878	blood:	n/a	chr1:224180344-224180355
10	ATF3	chr1:224180142-224180506	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
11	ATF3	chr1:224180201-224180512	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
12	ATF3	chr1:224180187-224180478	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
13	ATF3	chr1:224180214-224180405	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
14	ATF3	chr1:224180177-224180522	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
15	ATF3	chr1:224180121-224180536	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
16	ATF3	chr1:224180172-224180501	HepG2	liver:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
17	ATF3	chr1:224180154-224180502	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
18	BACH1	chr1:224180388-224180426	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr1:224182397-224182686	GM12878	blood:	n/a	n/a
20	BATF	chr1:224104058-224104261	GM12878	blood:	n/a	n/a
21	BATF	chr1:224092998-224093284	GM12878	blood:	n/a	n/a
22	BATF	chr1:224103998-224104234	GM12878	blood:	n/a	n/a
23	BATF	chr1:224182430-224182667	GM12878	blood:	n/a	n/a
24	BATF	chr1:224108555-224108855	GM12878	blood:	n/a	chr1:224108835-224108844
25	BATF	chr1:224108598-224108877	GM12878	blood:	n/a	chr1:224108835-224108844
26	BATF	chr1:224179785-224180831	GM12878	blood:	n/a	n/a
27	BATF	chr1:224095793-224096047	GM12878	blood:	n/a	n/a
28	BATF	chr1:224100112-224100738	GM12878	blood:	n/a	chr1:224100431-224100442
29	BATF	chr1:224144651-224145050	GM12878	blood:	n/a	n/a
30	BATF	chr1:224100132-224100691	GM12878	blood:	n/a	chr1:224100431-224100442
31	BCL11A	chr1:224083605-224083817	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:224100121-224100579	GM12878	blood:	n/a	chr1:224100434-224100443
33	BCL11A	chr1:224103937-224104270	GM12878	blood:	n/a	chr1:224104160-224104168
34	BCL11A	chr1:224090921-224091109	GM12878	blood:	n/a	chr1:224091090-224091098
35	BCL11A	chr1:224095758-224096028	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:224093639-224093850	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:224091435-224091635	GM12878	blood:	n/a	chr1:224091454-224091463
38	BCL11A	chr1:224179744-224180938	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
39	BCL11A	chr1:224094248-224094435	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:224095804-224096023	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:224100059-224100720	GM12878	blood:	n/a	chr1:224100434-224100443
42	BCL11A	chr1:224108051-224108199	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:224111240-224111434	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:224179801-224179949	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:224180490-224180840	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
46	BCL3	chr1:224075630-224076397	A549	lung:	n/a	chr1:224076057-224076066 chr1:224076058-224076067
47	BCL3	chr1:224075622-224076301	A549	lung:	n/a	chr1:224076057-224076066 chr1:224076058-224076067
48	BCLAF1	chr1:224180115-224180562	GM12878	blood:	n/a	chr1:224180534-224180543
49	BHLHE40	chr1:224180228-224180289	GM12878	blood:	n/a	n/a
50	BHLHE40	chr1:224110721-224110974	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224136349-224136399	GM12891	blood:	n/a
2	chr1:224180302-224180352	GM06990	blood:	n/a
3	chr1:224133090-224133140	HIPEpiC	eye:	n/a
4	chr1:224133090-224133140	GM12891	blood:	n/a
5	chr1:224136349-224136399	Hela-S3	cervix:	n/a
6	chr1:224180444-224180494	HCT-116	colon:	n/a
7	chr1:224180444-224180494	U87	brain:	n/a
8	chr1:224136349-224136399	GM12878	blood:	n/a
9	chr1:224177126-224177176	GM12878	blood:	n/a
10	chr1:224133090-224133140	HMEC	breast:	n/a
11	chr1:224180444-224180494	HRPEpiC	eye:	n/a
12	chr1:224136349-224136399	NHBE	bronchial:	n/a
13	chr1:224180516-224180566	HCPEpiC	choroid plexus:	n/a
14	chr1:224136349-224136399	Caco-2	colon:	n/a
15	chr1:224177126-224177176	RPTEC	kidney:	n/a
16	chr1:224180444-224180494	NHBE	bronchial:	n/a
17	chr1:224133090-224133140	SAEC	small airway:	n/a
18	chr1:224177126-224177176	GM12892	blood:	n/a
19	chr1:224180516-224180566	NH-A	brain:	n/a
20	chr1:224179665-224179715	GM12878	blood:	n/a
21	chr1:224180444-224180494	PANC-1	pancreas:	n/a
22	chr1:224180288-224180338	IMR90	lung:	fetal
23	chr1:224180302-224180352	HRCEpiC	kidney:	n/a
24	chr1:224180288-224180338	BE2_C	brain:	n/a
25	chr1:224180516-224180566	HUVEC	blood vessel:	n/a
26	chr1:224180288-224180338	HAEpiC	amniotic membrane:	n/a
27	chr1:224179665-224179715	HCT-116	colon:	n/a
28	chr1:224180444-224180494	IMR90	lung:	fetal
29	chr1:224180288-224180338	H1-hESC	embryonic stem cell:	embryo
30	chr1:224180288-224180338	NB4	blood:	n/a
31	chr1:224180516-224180566	HRPEpiC	eye:	n/a
32	chr1:224180302-224180352	LNCaP	prostate:	n/a
33	chr1:224133090-224133140	GM06990	blood:	n/a
34	chr1:224180516-224180566	GM12892	blood:	n/a
35	chr1:224180444-224180494	SK-N-SH_RA	brain:	n/a
36	chr1:224180288-224180338	GM12892	blood:	n/a
37	chr1:224133090-224133140	H1-hESC	embryonic stem cell:	embryo
38	chr1:224179665-224179715	NHDF-neo	bronchial:	n/a
39	chr1:224179665-224179715	BE2_C	brain:	n/a
40	chr1:224177126-224177176	H1-hESC	embryonic stem cell:	embryo
41	chr1:224180302-224180352	BJ	skin:	n/a
42	chr1:224177126-224177176	K562	blood:	n/a
43	chr1:224180302-224180352	ProgFib	skin:	n/a
44	chr1:224180302-224180352	SK-N-SH_RA	brain:	n/a
45	chr1:224180516-224180566	HCM	heart:	n/a
46	chr1:224180516-224180566	AG04449	skin:	fetal
47	chr1:224177126-224177176	HCPEpiC	choroid plexus:	n/a
48	chr1:224136349-224136399	SK-N-SH	brain:	n/a
49	chr1:224177126-224177176	AG10803	skin:	n/a
50	chr1:224180302-224180352	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr1:224178733..224180652-chr1:224310129..224312087,2	K562	blood:
2	chr1:223900030..223900536-chr1:224108678..224109196,2	K562	blood:
3	chr1:223887763..223889342-chr1:224178879..224180474,2	K562	blood:
4	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:
5	chr1:224178905..224181889-chr1:224301318..224303879,2	MCF-7	breast:
6	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-6	chr1:224170893-224170987	NONHSAT009756
2	lnc-TP53BP2-6	chr1:224172084-224172141	NONHSAT009757
3	lnc-FBXO28-1	chr1:224180714-224180749	NONHSAT009760
4	lnc-TP53BP2-4	chr1:224149779-224150142	NONHSAT009753
5	lnc-TP53BP2-4	chr1:224150312-224150411	NONHSAT009754
6	lnc-TP53BP2-3	chr1:224139722-224139941	NONHSAT009752
7	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-
8	lnc-TP53BP2-6	chr1:224170456-224170544	NONHSAT009756
9	lnc-TP53BP2-1	chr1:224151308-224152241	XLOC_001223
10	lnc-TP53BP2-4	chr1:224148701-224148934	NONHSAT009753
11	lnc-TP53BP2-1	chr1:224159276-224159470	XLOC_001223
12	lnc-TP53BP2-6	chr1:224170584-224170818	NONHSAT009757
13	lnc-FBXO28-1	chr1:224183659-224183796	ENSG00000185495.6
14	lnc-FBXO28-1	chr1:224183597-224183703	NONHSAT009761
15	lnc-TP53BP2-6	chr1:224175747-224175856	NONHSAT009756
16	lnc-TP53BP2-6	chr1:224174277-224174342	NONHSAT009756
17	lnc-TP53BP2-4	chr1:224149779-224150042	NONHSAT009754
18	lnc-TP53BP2-6	chr1:224170898-224170987	NONHSAT009757
19	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-

Variant related genes	Relation type
ENSG00000232372	TF binding region
ENSG00000243000	TF binding region
ENSG00000185495	TF binding region
ENSG00000272645	TF binding region
CICP5	TF binding region
RNU6-1319P	TF binding region
ENSG00000232372	CpG island
ENSG00000243000	CpG island
ENSG00000185495	CpG island
ENSG00000272645	CpG island
CICP5	CpG island
RNU6-1319P	CpG island
ENSG00000162909	chromatin interactions
ENSG00000143756	chromatin interactions
AHCYL2	miRNA target sites
WNT5B	miRNA target sites

Extended variants
information (count: 2151 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2151 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12033399	chr1:224076114-224076115	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192577398	chr1:224076209-224076210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527299733	chr1:224076240-224076241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12127515	chr1:224076265-224076266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185415558	chr1:224076312-224076313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554892042	chr1:224076313-224076314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576118356	chr1:224076322-224076323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543620906	chr1:224076352-224076353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558659026	chr1:224076353-224076354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188846361	chr1:224076358-224076359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541163570	chr1:224076482-224076483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113936138	chr1:224076555-224076556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574421578	chr1:224076611-224076612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542112175	chr1:224076649-224076650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12032205	chr1:224076686-224076687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530976139	chr1:224076698-224076699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12033586	chr1:224076709-224076710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3856160	chr1:224076732-224076733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3856159	chr1:224076743-224076744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372188306	chr1:224076800-224076801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369060113	chr1:224076805-224076806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535843560	chr1:224076854-224076855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548153572	chr1:224076965-224076966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35269411	chr1:224077000-224077001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569959027	chr1:224077008-224077009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537373402	chr1:224077126-224077127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558771068	chr1:224077175-224077176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577149610	chr1:224077285-224077286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375136971	chr1:224077301-224077302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185758876	chr1:224077309-224077310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534706664	chr1:224077350-224077351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34607346	chr1:224077367-224077368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147487355	chr1:224077389-224077390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575140122	chr1:224077424-224077425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574310400	chr1:224077443-224077444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34299856	chr1:224077486-224077487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541823187	chr1:224077493-224077494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563800634	chr1:224077508-224077509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182021129	chr1:224077541-224077542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3872199	chr1:224077553-224077554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546120834	chr1:224077583-224077584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564327880	chr1:224077593-224077594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546641469	chr1:224077598-224077599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562229220	chr1:224077599-224077600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529246501	chr1:224077863-224077864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550934001	chr1:224078096-224078097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569194464	chr1:224078110-224078111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369162279	chr1:224078112-224078113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552551146	chr1:224078252-224078253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570615596	chr1:224078264-224078265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD
Ewing''s sarcoma	19144156	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:224073000-224077400	Enhancers	Liver	Liver
3	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
4	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:224074400-224076200	Enhancers	Right Atrium	heart
6	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224075200-224076200	Enhancers	Fetal Stomach	stomach
8	chr1:224075400-224076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:224075400-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:224075400-224076400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:224075400-224076400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:224075400-224076400	Flanking Active TSS	A549	lung
13	chr1:224075400-224076400	Flanking Active TSS	Hela-S3	cervix
14	chr1:224075400-224076600	Enhancers	NHEK	skin
15	chr1:224075400-224076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224075600-224076200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224075600-224076200	Flanking Active TSS	Fetal Heart	heart
18	chr1:224075600-224076400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:224075600-224076400	Flanking Active TSS	Osteobl	bone
20	chr1:224075800-224076200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:224075800-224076200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:224075800-224076200	Flanking Active TSS	Fetal Kidney	kidney
23	chr1:224075800-224076200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:224075800-224076400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:224075800-224076600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:224075800-224076600	Enhancers	NH-A	brain
27	chr1:224075800-224077000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:224076000-224076200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:224076000-224076200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:224076000-224076200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr1:224076000-224076400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:224076000-224076400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:224076000-224076400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:224076000-224076400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:224076000-224076400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:224076000-224076400	Enhancers	HMEC	breast
37	chr1:224076000-224076400	Flanking Active TSS	HSMMtube	muscle
38	chr1:224076000-224076400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:224076000-224076400	Flanking Active TSS	NHLF	lung
40	chr1:224076000-224076600	Enhancers	HSMM	muscle
41	chr1:224076000-224076600	Enhancers	HUVEC	blood vessel
42	chr1:224076200-224076400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:224076200-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:224076200-224076400	Enhancers	Fetal Heart	heart
45	chr1:224076200-224076400	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:224076200-224076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:224076200-224076600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:224076200-224076600	Enhancers	Fetal Kidney	kidney
49	chr1:224076200-224077400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:224076400-224076600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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