Variant report

Variant	nsv2883
Chromosome Location	chr2:114507889-114535199
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	chr2:114535015-114535287	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114513959-114514530	HepG2	liver:	n/a	n/a
3	ATF1	chr2:114514093-114514765	K562	blood:	n/a	n/a
4	ATF2	chr2:114514125-114514475	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:114513986-114514818	GM12878	blood:	n/a	n/a
6	ATF2	chr2:114514093-114514525	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:114514058-114514859	GM12878	blood:	n/a	n/a
8	ATF3	chr2:114514149-114514470	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
9	ATF3	chr2:114514027-114514506	HepG2	liver:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
10	ATF3	chr2:114514198-114514444	GM12878	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
11	ATF3	chr2:114514043-114514715	A549	lung:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
12	ATF3	chr2:114514156-114514548	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
13	ATF3	chr2:114514057-114514593	H1-hESC	embryonic stem cell:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
14	ATF3	chr2:114514159-114514472	H1-hESC	embryonic stem cell:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
15	ATF3	chr2:114514146-114514474	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
16	ATF3	chr2:114514180-114514521	GM12878	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
17	BACH1	chr2:114513667-114514194	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr2:114514201-114514885	A549	lung:	n/a	n/a
19	BCLAF1	chr2:114513478-114514838	GM12878	blood:	n/a	chr2:114513799-114513812 chr2:114513811-114513820 chr2:114514199-114514208
20	BCLAF1	chr2:114513653-114514964	GM12878	blood:	n/a	chr2:114513799-114513812 chr2:114513811-114513820 chr2:114514199-114514208
21	BHLHE40	chr2:114513749-114514736	K562	blood:	n/a	n/a
22	BHLHE40	chr2:114513136-114513420	K562	blood:	n/a	n/a
23	BHLHE40	chr2:114513739-114514820	GM12878	blood:	n/a	n/a
24	BRCA1	chr2:114514115-114514499	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr2:114514072-114514472	GM12878	blood:	n/a	n/a
26	BRCA1	chr2:114514041-114514597	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr2:114513977-114514495	HepG2	liver:	n/a	n/a
28	CBX3	chr2:114514203-114514562	K562	blood:	n/a	n/a
29	CBX3	chr2:114513698-114515024	K562	blood:	n/a	n/a
30	CCNT2	chr2:114513513-114514747	K562	blood:	n/a	n/a
31	CEBPB	chr2:114531594-114531864	K562	blood:	n/a	chr2:114531736-114531747
32	CEBPB	chr2:114529687-114530020	K562	blood:	n/a	chr2:114529863-114529874 chr2:114529829-114529840
33	CEBPB	chr2:114514133-114514923	GM12878	blood:	n/a	n/a
34	CEBPB	chr2:114525668-114525921	HepG2	liver:	n/a	chr2:114525799-114525810
35	CEBPB	chr2:114532248-114532454	K562	blood:	n/a	n/a
36	CEBPB	chr2:114529693-114529997	A549	lung:	n/a	chr2:114529863-114529874 chr2:114529829-114529840
37	CEBPB	chr2:114513779-114514930	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:114527154-114527485	HepG2	liver:	n/a	chr2:114527307-114527318
39	CEBPB	chr2:114527190-114527364	HepG2	liver:	n/a	chr2:114527307-114527318
40	CEBPB	chr2:114528621-114528821	K562	blood:	n/a	n/a
41	CEBPB	chr2:114531604-114531839	HepG2	liver:	n/a	chr2:114531736-114531747
42	CEBPB	chr2:114529674-114530037	IMR90	lung:	n/a	chr2:114529863-114529874 chr2:114529829-114529840
43	CEBPB	chr2:114532248-114532448	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:114529685-114530029	HepG2	liver:	n/a	chr2:114529863-114529874 chr2:114529829-114529840
45	CEBPB	chr2:114519878-114520249	IMR90	lung:	n/a	chr2:114519903-114519915
46	CEBPB	chr2:114529653-114530047	Hela-S3	cervix:	n/a	chr2:114529863-114529874 chr2:114529829-114529840
47	CEBPB	chr2:114531731-114531786	IMR90	lung:	n/a	chr2:114531736-114531747
48	CEBPD	chr2:114514055-114514549	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:114513912-114514592	K562	blood:	n/a	n/a
50	CEBPD	chr2:114513858-114514528	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114514230-114514280	ECC-1	luminal epithelium:	n/a
2	chr2:114514230-114514280	ECC-1	luminal epithelium:	n/a
3	chr2:114514736-114514786	AG09309	skin:	n/a
4	chr2:114514590-114514640	MCF10A-Er-Src	breast:	n/a
5	chr2:114514412-114514462	HEEpiC	esophagus:	n/a
6	chr2:114514620-114514670	SK-N-SH_RA	brain:	n/a
7	chr2:114514236-114514286	SK-N-SH_RA	brain:	n/a
8	chr2:114514236-114514286	MCF-7	breast:	n/a
9	chr2:114513914-114513964	MCF-7	breast:	n/a
10	chr2:114517017-114517067	Jurkat	blood:	n/a
11	chr2:114514562-114514612	NT2-D1	testis:	n/a
12	chr2:114514236-114514286	Hela-S3	cervix:	n/a
13	chr2:114514562-114514612	BJ	skin:	n/a
14	chr2:114514230-114514280	PFSK-1	brain:	n/a
15	chr2:114514615-114514665	HCM	heart:	n/a
16	chr2:114513466-114513516	SK-N-MC	brain:	n/a
17	chr2:114514736-114514786	HCPEpiC	choroid plexus:	n/a
18	chr2:114514590-114514640	AoSMC	blood vessel:	n/a
19	chr2:114514412-114514462	A549	lung:	n/a
20	chr2:114514620-114514670	HRCEpiC	kidney:	n/a
21	chr2:114514230-114514280	AG04449	skin:	fetal
22	chr2:114514412-114514462	PANC-1	pancreas:	n/a
23	chr2:114514562-114514612	GM12892	blood:	n/a
24	chr2:114514562-114514612	AG09309	skin:	n/a
25	chr2:114513466-114513516	H1-hESC	embryonic stem cell:	embryo
26	chr2:114513466-114513516	ProgFib	skin:	n/a
27	chr2:114513466-114513516	NT2-D1	testis:	n/a
28	chr2:114514230-114514280	HMEC	breast:	n/a
29	chr2:114514236-114514286	HRE	kidney:	n/a
30	chr2:114514615-114514665	NHDF-neo	bronchial:	n/a
31	chr2:114509933-114509983	Hepatocyte	liver:	n/a
32	chr2:114517017-114517067	HRE	kidney:	n/a
33	chr2:114514236-114514286	AG09319	gingival:	n/a
34	chr2:114514736-114514786	NHBE	bronchial:	n/a
35	chr2:114514736-114514786	GM19239	blood:	n/a
36	chr2:114514412-114514462	MCF10A-Er-Src	breast:	n/a
37	chr2:114514236-114514286	SAEC	small airway:	n/a
38	chr2:114514236-114514286	ProgFib	skin:	n/a
39	chr2:114513466-114513516	GM19239	blood:	n/a
40	chr2:114514412-114514462	PFSK-1	brain:	n/a
41	chr2:114514236-114514286	GM12892	blood:	n/a
42	chr2:114509933-114509983	HAEpiC	amniotic membrane:	n/a
43	chr2:114514532-114514582	HL-60	blood:	n/a
44	chr2:114514615-114514665	Hela-S3	cervix:	n/a
45	chr2:114514236-114514286	AG04450	lung:	fetal
46	chr2:114514532-114514582	NT2-D1	testis:	n/a
47	chr2:114514736-114514786	GM12878	blood:	n/a
48	chr2:114513466-114513516	SK-N-SH	brain:	n/a
49	chr2:114514412-114514462	CMK	blood:	n/a
50	chr2:114514532-114514582	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114513011..114515179-chr2:114599381..114601639,2	MCF-7	breast:
2	chr2:114512943..114515625-chr2:114589095..114591354,2	MCF-7	breast:
3	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
4	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:
5	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:
6	chr2:114514046..114514656-chr5:122758831..122759348,2	HCT-116	colon:
7	chr2:114514378..114516716-chr2:114517485..114519813,3	MCF-7	breast:
8	chr2:114511724..114513896-chr2:114718190..114720983,2	K562	blood:
9	chr2:114522116..114523853-chr2:114647627..114649620,2	MCF-7	breast:
10	chr2:114532490..114535142-chr2:114535239..114537247,2	MCF-7	breast:
11	chr2:114509032..114512220-chr2:114645424..114649150,4	K562	blood:
12	chr12:44199519..44200501-chr2:114513660..114514189,2	Hela-S3	cervix:
13	chr2:114513854..114516173-chr2:114527301..114529193,2	K562	blood:
14	chr2:114513672..114514318-chr9:88356507..88357153,2	Hela-S3	cervix:
15	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
16	chr2:114512789..114515409-chr20:55840179..55841852,2	MCF-7	breast:
17	chr2:114513771..114515245-chr2:114647371..114648721,7	MCF-7	breast:
18	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
19	chr2:114511937..114515433-chr2:114525271..114528469,4	MCF-7	breast:
20	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:
21	chr2:114489220..114494215-chr2:114513189..114517576,5	K562	blood:
22	chr19:51161342..51161939-chr2:114513674..114514254,2	NB4	blood:
23	chr2:114514479..114516685-chr2:114517501..114519701,2	K562	blood:
24	chr2:114514479..114516685-chr2:114517501..114519701,2	K562	blood:
25	chr2:114502081..114505265-chr2:114506147..114510534,5	K562	blood:
26	chr1:45196597..45197146-chr2:114513869..114514378,2	HCT-116	colon:
27	chr2:114512582..114515674-chr2:114516372..114520568,3	MCF-7	breast:
28	chr2:114501133..114502988-chr2:114513074..114515544,2	K562	blood:
29	chr2:114514472..114517401-chr2:114595773..114597784,2	MCF-7	breast:
30	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
31	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:
32	chr2:114506134..114509664-chr2:114511925..114515702,4	MCF-7	breast:
33	chr11:62312627..62313318-chr2:114514037..114514594,2	Hela-S3	cervix:
34	chr2:114491572..114494215-chr2:114513189..114515373,3	K562	blood:
35	chr2:114486595..114488482-chr2:114509848..114512197,2	K562	blood:
36	chr2:114513054..114520343-chr2:114521272..114525716,9	MCF-7	breast:
37	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
38	chr2:114505270..114508161-chr2:114512124..114515717,3	K562	blood:
39	chr2:114522159..114524352-chr2:114644924..114646816,2	K562	blood:
40	chr2:114512806..114514791-chr2:114533801..114535342,2	MCF-7	breast:
41	chr2:114516554..114518950-chr2:114645999..114648586,2	K562	blood:
42	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
43	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
44	chr2:114496162..114498041-chr2:114518174..114520618,2	K562	blood:

Variant related genes	Relation type
SLC35F5	TF binding region
SLC35F5	CpG island
ENSG00000270019	chromatin interactions
ENSG00000235034	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000135049	chromatin interactions
ENSG00000228857	chromatin interactions
ENSG00000115084	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000151239	chromatin interactions
ENSG00000115091	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000101144	chromatin interactions

Extended variants
information (count: 1001 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1001 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188468319	chr2:114507928-114507929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573411792	chr2:114507936-114507937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180910421	chr2:114507956-114507957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368685010	chr2:114507959-114507960	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370481461	chr2:114507961-114507962	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372012233	chr2:114507963-114507964	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539255912	chr2:114507984-114507985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567368278	chr2:114507986-114507987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375944618	chr2:114508019-114508020	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs60727155	chr2:114508020-114508021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556190555	chr2:114508021-114508022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184692931	chr2:114508022-114508023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376646169	chr2:114508062-114508063	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138332010	chr2:114508107-114508108	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143352356	chr2:114508126-114508127	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558231455	chr2:114508183-114508184	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200006195	chr2:114508190-114508191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59826038	chr2:114508191-114508192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548026523	chr2:114508226-114508227	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113034505	chr2:114508258-114508259	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374951316	chr2:114508264-114508265	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189666873	chr2:114508272-114508273	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113412800	chr2:114508312-114508313	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116364716	chr2:114508348-114508349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186908533	chr2:114508356-114508357	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112595608	chr2:114508484-114508485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531926570	chr2:114508533-114508534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551633282	chr2:114508542-114508543	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564571495	chr2:114508551-114508552	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527262787	chr2:114508590-114508591	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547201065	chr2:114508593-114508594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143756752	chr2:114508600-114508601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190797401	chr2:114508616-114508617	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182022261	chr2:114508627-114508628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111227256	chr2:114508779-114508780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369448203	chr2:114508781-114508782	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549990262	chr2:114508841-114508842	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151074789	chr2:114508857-114508858	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538962097	chr2:114508879-114508880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558875733	chr2:114508895-114508896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578086150	chr2:114508916-114508917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534149818	chr2:114508920-114508921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11690450	chr2:114508929-114508930	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574118948	chr2:114508932-114508933	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35664209	chr2:114509017-114509018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185030915	chr2:114509037-114509038	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs561307335	chr2:114509046-114509047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs375018241	chr2:114509057-114509058	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562768048	chr2:114509058-114509059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs11694541	chr2:114509074-114509075	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:50)

Disease	PMID	Source
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
Autism	22495311	CNVD
Autism	18522746	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
4	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:114470400-114510800	Strong transcription	HSMM	muscle
8	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:114479200-114510400	Strong transcription	Liver	Liver
10	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114484400-114510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
14	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:114494200-114510400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:114494200-114510600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:114494400-114509400	Strong transcription	Adipose Nuclei	Adipose
22	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:114494400-114511600	Strong transcription	Osteobl	bone
24	chr2:114494600-114510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:114494800-114510200	Strong transcription	HepG2	liver
26	chr2:114495000-114508800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:114495400-114509200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:114495800-114511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:114495800-114512200	Weak transcription	Fetal Heart	heart
30	chr2:114496200-114510600	Strong transcription	Placenta	Placenta
31	chr2:114496600-114510400	Strong transcription	NHDF-Ad	bronchial
32	chr2:114497600-114510600	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:114498400-114511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
35	chr2:114500000-114508000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:114500400-114509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
38	chr2:114501400-114512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:114501800-114510200	Weak transcription	HUVEC	blood vessel
40	chr2:114502000-114512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:114502800-114508400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:114503600-114509000	Strong transcription	Fetal Lung	lung
44	chr2:114503800-114508000	Weak transcription	GM12878-XiMat	blood
45	chr2:114503800-114512000	Weak transcription	Fetal Brain Male	brain
46	chr2:114504000-114508000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:114504000-114508000	Weak transcription	Primary B cells from cord blood	blood
48	chr2:114504000-114508000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:114504000-114508400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:114504000-114512000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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