Variant report

Variant	esv3342573
Chromosome Location	chr2:74424669-74427217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:961)
CpG islands
(count:854)
Chromatin interactive
region (count:58)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:74425412-74425998	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:74425265-74425940	K562	blood:	n/a	n/a
3	ARID3A	chr2:74426251-74426453	K562	blood:	n/a	n/a
4	ARID3A	chr2:74426211-74426466	HepG2	liver:	n/a	n/a
5	ATF1	chr2:74425326-74425812	K562	blood:	n/a	n/a
6	ATF2	chr2:74426820-74427466	GM12878	blood:	n/a	n/a
7	ATF2	chr2:74425254-74426783	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:74425265-74425944	GM12878	blood:	n/a	n/a
9	ATF2	chr2:74425411-74426709	GM12878	blood:	n/a	n/a
10	ATF2	chr2:74426890-74427401	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:74426181-74426654	GM12878	blood:	n/a	n/a
12	ATF2	chr2:74425398-74427610	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr2:74425155-74425970	A549	lung:	n/a	n/a
14	ATF3	chr2:74426065-74426557	H1-hESC	embryonic stem cell:	n/a	chr2:74426372-74426381
15	ATF3	chr2:74426167-74426480	HepG2	liver:	n/a	chr2:74426372-74426381
16	ATF3	chr2:74426170-74426398	K562	blood:	n/a	chr2:74426372-74426381
17	ATF3	chr2:74426092-74426545	K562	blood:	n/a	chr2:74426372-74426381
18	BACH1	chr2:74425694-74425713	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:74426187-74426465	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr2:74425623-74425927	GM12878	blood:	n/a	n/a
21	BCL3	chr2:74425066-74426735	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
22	BCL3	chr2:74426139-74426759	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426213-74426226 chr2:74426317-74426326
23	BCL3	chr2:74425235-74426026	A549	lung:	n/a	n/a
24	BCL3	chr2:74426055-74426542	GM12878	blood:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326
25	BCLAF1	chr2:74425511-74426736	GM12878	blood:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
26	BCLAF1	chr2:74426016-74426584	K562	blood:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
27	BCLAF1	chr2:74425529-74426796	GM12878	blood:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
28	BCLAF1	chr2:74426837-74427444	GM12878	blood:	n/a	chr2:74427262-74427271
29	BHLHE40	chr2:74427097-74427459	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:74425391-74426623	GM12878	blood:	n/a	chr2:74426319-74426335
31	BHLHE40	chr2:74425169-74426495	K562	blood:	n/a	chr2:74426319-74426335
32	BRCA1	chr2:74425710-74425862	HepG2	liver:	n/a	n/a
33	BRCA1	chr2:74426235-74426440	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:74425734-74425937	GM12878	blood:	n/a	n/a
35	BRCA1	chr2:74426214-74426586	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr2:74425350-74426608	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr2:74426272-74426365	GM12878	blood:	n/a	n/a
38	BRCA1	chr2:74425616-74425811	H1-hESC	embryonic stem cell:	n/a	n/a
39	CBX3	chr2:74425191-74425902	K562	blood:	n/a	n/a
40	CBX3	chr2:74424919-74426515	K562	blood:	n/a	n/a
41	CCNT2	chr2:74427014-74427346	K562	blood:	n/a	n/a
42	CCNT2	chr2:74425387-74426548	K562	blood:	n/a	n/a
43	CEBPB	chr2:74426100-74426824	MCF-7	breast:	n/a	n/a
44	CEBPB	chr2:74426093-74426872	K562	blood:	n/a	n/a
45	CEBPB	chr2:74426133-74426890	MCF-7	breast:	n/a	n/a
46	CEBPB	chr2:74426125-74426815	A549	lung:	n/a	n/a
47	CEBPB	chr2:74424968-74426020	GM12878	blood:	n/a	n/a
48	CEBPB	chr2:74426146-74426868	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:74426148-74427077	A549	lung:	n/a	n/a
50	CEBPB	chr2:74426087-74426886	ECC-1	luminal epithelium:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74425763-74425813	NHDF-neo	bronchial:	n/a
2	chr2:74426442-74426492	H1-hESC	embryonic stem cell:	embryo
3	chr2:74426422-74426472	HRCEpiC	kidney:	n/a
4	chr2:74425085-74425135	HEEpiC	esophagus:	n/a
5	chr2:74426422-74426472	BE2_C	brain:	n/a
6	chr2:74426442-74426492	GM12878	blood:	n/a
7	chr2:74425763-74425813	GM19239	blood:	n/a
8	chr2:74426442-74426492	GM12892	blood:	n/a
9	chr2:74425934-74425984	HEEpiC	esophagus:	n/a
10	chr2:74425593-74425643	AG10803	skin:	n/a
11	chr2:74426442-74426492	LNCaP	prostate:	n/a
12	chr2:74425266-74425316	RPTEC	kidney:	n/a
13	chr2:74425610-74425660	AG09309	skin:	n/a
14	chr2:74425266-74425316	HAEpiC	amniotic membrane:	n/a
15	chr2:74425266-74425316	T-47D	breast:	n/a
16	chr2:74425763-74425813	GM12878	blood:	n/a
17	chr2:74425761-74425811	LNCaP	prostate:	n/a
18	chr2:74425266-74425316	CMK	blood:	n/a
19	chr2:74425761-74425811	Hela-S3	cervix:	n/a
20	chr2:74425610-74425660	LNCaP	prostate:	n/a
21	chr2:74426200-74426250	MCF10A-Er-Src	breast:	n/a
22	chr2:74425523-74425573	BE2_C	brain:	n/a
23	chr2:74425593-74425643	SAEC	small airway:	n/a
24	chr2:74425934-74425984	IMR90	lung:	fetal
25	chr2:74425593-74425643	Hela-S3	cervix:	n/a
26	chr2:74425523-74425573	NHDF-neo	bronchial:	n/a
27	chr2:74425761-74425811	GM12878	blood:	n/a
28	chr2:74425523-74425573	GM06990	blood:	n/a
29	chr2:74425593-74425643	T-47D	breast:	n/a
30	chr2:74426422-74426472	ovcar-3	ovarian:	n/a
31	chr2:74426442-74426492	HIPEpiC	eye:	n/a
32	chr2:74425085-74425135	RPTEC	kidney:	n/a
33	chr2:74425512-74425562	HRPEpiC	eye:	n/a
34	chr2:74426442-74426492	K562	blood:	n/a
35	chr2:74425523-74425573	HNPCEpiC	eye:	n/a
36	chr2:74425763-74425813	AG09309	skin:	n/a
37	chr2:74425266-74425316	Caco-2	colon:	n/a
38	chr2:74425761-74425811	HAEpiC	amniotic membrane:	n/a
39	chr2:74425523-74425573	PANC-1	pancreas:	n/a
40	chr2:74425266-74425316	SAEC	small airway:	n/a
41	chr2:74425593-74425643	HepG2	liver:	n/a
42	chr2:74425763-74425813	BJ	skin:	n/a
43	chr2:74425761-74425811	GM19239	blood:	n/a
44	chr2:74425266-74425316	Hepatocyte	liver:	n/a
45	chr2:74425266-74425316	AG10803	skin:	n/a
46	chr2:74426442-74426492	AG09319	gingival:	n/a
47	chr2:74425749-74425799	CMK	blood:	n/a
48	chr2:74426422-74426472	HCM	heart:	n/a
49	chr2:74425610-74425660	PANC-1	pancreas:	n/a
50	chr2:74425934-74425984	SK-N-SH_RA	brain:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
2	chr14:64319297..64320096-chr2:74425675..74426285,2	Hela-S3	cervix:
3	chr2:74153459..74155877-chr2:74426669..74428848,2	K562	blood:
4	chr2:74425407..74426106-chr7:139043916..139044907,2	Hela-S3	cervix:
5	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
6	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
7	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
8	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
9	chr2:74425440..74425940-chr7:72992543..72993531,2	NB4	blood:
10	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
11	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
12	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
13	chr2:74425505..74426095-chr9:132387975..132388623,2	HCT-116	colon:
14	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
15	chr2:74397813..74400618-chr2:74425096..74427227,2	MCF-7	breast:
16	chr1:210547014..210547912-chr2:74425635..74426185,2	HCT-116	colon:
17	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
18	chr2:74425539..74426148-chrX:12992455..12993356,2	Hela-S3	cervix:
19	chr12:6472551..6473377-chr2:74426944..74427777,2	Hela-S3	cervix:
20	chr15:66796682..66797225-chr2:74425336..74426277,2	Hela-S3	cervix:
21	chr2:74427072..74428786-chr2:74464824..74466711,2	K562	blood:
22	chr10:69865624..69866375-chr2:74425502..74426074,2	Hela-S3	cervix:
23	chr1:245133242..245133885-chr2:74425551..74426096,2	Hela-S3	cervix:
24	chr2:74425419..74425988-chr9:132934675..132935211,2	Hela-S3	cervix:
25	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
26	chr2:74425051..74425749-chr3:167813517..167814121,2	Hela-S3	cervix:
27	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
28	chr2:74425262..74426237-chr3:152878862..152879670,2	Hela-S3	cervix:
29	chr2:74424191..74425916-chr2:74756142..74757676,2	K562	blood:
30	chr2:74425852..74427656-chr2:74647000..74649237,2	MCF-7	breast:
31	chr2:74425544..74426237-chr3:146262234..146262977,2	HCT-116	colon:
32	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
33	chr2:74425525..74426060-chr21:34914349..34915114,2	Hela-S3	cervix:
34	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
35	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
36	chr2:74423959..74426234-chr2:74728911..74730811,4	K562	blood:
37	chr1:17231207..17231977-chr2:74425262..74426115,2	Hela-S3	cervix:
38	chr1:145382547..145383056-chr2:74425765..74426275,2	Hela-S3	cervix:
39	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
40	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
41	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
42	chr2:74425489..74426008-chr9:35102578..35103177,2	Hela-S3	cervix:
43	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
44	chr2:74423897..74425896-chr2:74778164..74780154,2	K562	blood:
45	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
46	chr15:65588103..65588660-chr2:74425649..74426482,2	Hela-S3	cervix:
47	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
48	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
49	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:
50	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC4A5-1	chr2:74426144-74426149	NONHSAT071675
2	lnc-SLC4A5-1	chr2:74423831-74425682	NONHSAT071675

No data

Variant related genes	Relation type
MTHFD2	TF binding region
MTHFD2	CpG island
ENSG00000232442	chromatin interactions
ENSG00000187193	chromatin interactions
ENSG00000187605	chromatin interactions
ENSG00000244268	chromatin interactions
ENSG00000151239	chromatin interactions
ENSG00000225439	chromatin interactions
ENSG00000107130	chromatin interactions
ENSG00000138347	chromatin interactions
ENSG00000124356	chromatin interactions
ENSG00000054654	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000115317	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000163170	chromatin interactions
ENSG00000203666	chromatin interactions
ENSG00000106638	chromatin interactions
ENSG00000163913	chromatin interactions
ENSG00000257702	chromatin interactions
ENSG00000116001	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000188313	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000179528	chromatin interactions
ENSG00000237883	chromatin interactions
ENSG00000115307	chromatin interactions
ENSG00000174444	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000165283	chromatin interactions
ENSG00000115998	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000111319	chromatin interactions
ENSG00000188687	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000005448	chromatin interactions
ENSG00000115318	chromatin interactions
ENSG00000129071	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000159239	chromatin interactions
ENSG00000101216	chromatin interactions
ENSG00000114956	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000267958	chromatin interactions
ENSG00000217702	chromatin interactions
ENSG00000114978	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000257800	chromatin interactions
ENSG00000090487	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000148335	chromatin interactions
ENSG00000204822	chromatin interactions
ENSG00000173905	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146650347	chr2:74424670-74424671	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
2	rs190941559	chr2:74424697-74424698	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
3	rs539832777	chr2:74424707-74424708	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
4	rs183132373	chr2:74424715-74424716	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
5	rs139010713	chr2:74424751-74424752	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
6	rs143034668	chr2:74424787-74424788	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
7	rs187648472	chr2:74424793-74424794	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
8	rs534902735	chr2:74424817-74424818	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
9	rs192018792	chr2:74424907-74424908	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
10	rs553349141	chr2:74424922-74424923	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
11	rs557018647	chr2:74424924-74424925	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
12	rs574938226	chr2:74424955-74424956	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
13	rs183387146	chr2:74425121-74425122	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
14	rs563693094	chr2:74425130-74425131	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
15	rs573224683	chr2:74425139-74425140	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
16	rs111232091	chr2:74425184-74425185	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
17	rs6744123	chr2:74425194-74425195	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529485495	chr2:74425231-74425232	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
19	rs192531106	chr2:74425256-74425257	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
20	rs184542067	chr2:74425265-74425266	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
21	rs533415564	chr2:74425280-74425281	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
22	rs186681059	chr2:74425411-74425412	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
23	rs144184930	chr2:74425424-74425425	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
24	rs369342441	chr2:74425426-74425427	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
25	rs146280062	chr2:74425427-74425428	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
26	rs71391718	chr2:74425434-74425435	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
27	rs62147680	chr2:74425437-74425438	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
28	rs62147681	chr2:74425439-74425440	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
29	rs374038409	chr2:74425440-74425441	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
30	rs139388115	chr2:74425443-74425444	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
31	rs201844948	chr2:74425444-74425445	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
32	rs568213531	chr2:74425445-74425446	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
33	rs535632968	chr2:74425446-74425447	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
34	rs75017202	chr2:74425447-74425448	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
35	rs77991371	chr2:74425452-74425453	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
36	rs376334886	chr2:74425454-74425455	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
37	rs199953879	chr2:74425457-74425458	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
38	rs539119770	chr2:74425464-74425465	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
39	rs557348628	chr2:74425467-74425468	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
40	rs572482363	chr2:74425472-74425473	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
41	rs74524973	chr2:74425511-74425512	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
42	rs185048690	chr2:74425560-74425561	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
43	rs377294781	chr2:74425571-74425572	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
44	rs189439102	chr2:74425587-74425588	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
45	rs544790882	chr2:74425599-74425600	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	Overlapped CNVs	n/a
46	rs193203272	chr2:74425617-74425618	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	Overlapped CNVs	n/a
47	rs563040432	chr2:74425624-74425625	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	Overlapped CNVs	n/a
48	rs533478816	chr2:74425644-74425645	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	Overlapped CNVs	n/a
49	rs557092098	chr2:74425646-74425647	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	Overlapped CNVs	n/a
50	rs11687991	chr2:74425701-74425702	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:74417200-74425000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:74419600-74425200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:74419800-74425000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:74419800-74425200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:74420000-74425200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:74420400-74424800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:74422200-74425000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:74423600-74425200	Enhancers	HepG2	liver
12	chr2:74424000-74425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:74424200-74425000	Enhancers	Dnd41	blood
14	chr2:74424200-74425000	Enhancers	Hela-S3	cervix
15	chr2:74424400-74424800	Enhancers	A549	lung
16	chr2:74424400-74425200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr2:74424400-74425400	Enhancers	Pancreas	Pancrea
18	chr2:74424600-74425000	Enhancers	K562	blood
19	chr2:74424600-74425200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:74424800-74425000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:74424800-74425000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:74424800-74425000	Active TSS	A549	lung
23	chr2:74424800-74425000	Enhancers	GM12878-XiMat	blood
24	chr2:74424800-74425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:74424800-74425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:74425000-74425200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:74425000-74425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:74425000-74425200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:74425000-74425200	Enhancers	Primary B cells from cord blood	blood
30	chr2:74425000-74425200	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:74425000-74425200	Enhancers	Primary T cells from cord blood	blood
32	chr2:74425000-74425200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:74425000-74425200	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:74425000-74425200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:74425000-74425200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:74425000-74425200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:74425000-74425200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:74425000-74425200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:74425000-74425200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:74425000-74425200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:74425000-74425200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:74425000-74425200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:74425000-74425200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:74425000-74425200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:74425000-74425200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:74425000-74425200	Enhancers	Brain Angular Gyrus	brain
47	chr2:74425000-74425200	Enhancers	Brain Anterior Caudate	brain
48	chr2:74425000-74425200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:74425000-74425200	Enhancers	Brain Hippocampus Middle	brain
50	chr2:74425000-74425200	Enhancers	Brain Inferior Temporal Lobe	brain

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