Variant report

Variant	esv1799879
Chromosome Location	chr12:104351057-104360713
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	chr12:104350806-104351645	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:104359105-104359848	K562	blood:	n/a	n/a
3	ARID3A	chr12:104355239-104355245	K562	blood:	n/a	n/a
4	ARID3A	chr12:104350906-104351590	K562	blood:	n/a	n/a
5	ARID3A	chr12:104354352-104354711	K562	blood:	n/a	n/a
6	ARID3A	chr12:104359319-104360150	HepG2	liver:	n/a	n/a
7	ATF1	chr12:104350704-104351485	K562	blood:	n/a	n/a
8	ATF1	chr12:104354346-104354961	K562	blood:	n/a	n/a
9	ATF2	chr12:104350722-104351403	GM12878	blood:	n/a	n/a
10	ATF2	chr12:104359175-104359844	GM12878	blood:	n/a	chr12:104359447-104359461
11	ATF2	chr12:104350651-104351439	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:104359134-104360010	H1-hESC	embryonic stem cell:	n/a	chr12:104359447-104359461
13	ATF2	chr12:104359265-104359871	H1-hESC	embryonic stem cell:	n/a	chr12:104359447-104359461
14	ATF2	chr12:104350737-104351528	GM12878	blood:	n/a	n/a
15	ATF2	chr12:104359099-104360045	GM12878	blood:	n/a	chr12:104359447-104359461
16	ATF2	chr12:104350642-104351506	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr12:104350894-104351214	K562	blood:	n/a	n/a
18	ATF3	chr12:104359117-104360284	A549	lung:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
19	ATF3	chr12:104350857-104351169	K562	blood:	n/a	n/a
20	ATF3	chr12:104359477-104359628	GM12878	blood:	n/a	chr12:104359568-104359577 chr12:104359540-104359554 chr12:104359557-104359577
21	ATF3	chr12:104359337-104359810	H1-hESC	embryonic stem cell:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
22	ATF3	chr12:104359394-104359778	H1-hESC	embryonic stem cell:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
23	ATF3	chr12:104359297-104359975	GM12878	blood:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
24	ATF3	chr12:104350721-104351242	H1-hESC	embryonic stem cell:	n/a	chr12:104350830-104350839
25	ATF3	chr12:104350763-104351318	HepG2	liver:	n/a	chr12:104350830-104350839
26	ATF3	chr12:104350875-104351129	GM12878	blood:	n/a	n/a
27	ATF3	chr12:104354339-104354675	K562	blood:	n/a	n/a
28	ATF3	chr12:104359082-104360142	A549	lung:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359100-104359111 chr12:104359540-104359554 chr12:104359557-104359577
29	ATF3	chr12:104359443-104359702	HepG2	liver:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
30	ATF3	chr12:104350780-104351220	H1-hESC	embryonic stem cell:	n/a	chr12:104350830-104350839
31	ATF3	chr12:104350575-104351324	A549	lung:	n/a	chr12:104350830-104350839
32	ATF3	chr12:104350832-104351126	HepG2	liver:	n/a	n/a
33	ATF3	chr12:104350772-104351278	GM12878	blood:	n/a	chr12:104350830-104350839
34	ATF3	chr12:104350688-104351544	A549	lung:	n/a	chr12:104350830-104350839
35	ATF3	chr12:104359408-104359726	K562	blood:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
36	ATF3	chr12:104359283-104359850	HepG2	liver:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
37	BACH1	chr12:104359299-104359983	H1-hESC	embryonic stem cell:	n/a	n/a
38	BATF	chr12:104350808-104351139	GM12878	blood:	n/a	n/a
39	BCL11A	chr12:104350822-104351339	GM12878	blood:	n/a	chr12:104351030-104351043
40	BCL3	chr12:104350664-104351606	A549	lung:	n/a	chr12:104351030-104351043
41	BCL3	chr12:104350067-104351659	A549	lung:	n/a	chr12:104350626-104350635 chr12:104351030-104351043
42	BCL3	chr12:104359038-104359936	A549	lung:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
43	BCL3	chr12:104350788-104351237	GM12878	blood:	n/a	chr12:104351030-104351043
44	BCL3	chr12:104359050-104360242	A549	lung:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
45	BCLAF1	chr12:104350670-104351537	K562	blood:	n/a	chr12:104351030-104351043
46	BCLAF1	chr12:104350652-104351639	GM12878	blood:	n/a	chr12:104351030-104351043
47	BCLAF1	chr12:104350708-104351515	GM12878	blood:	n/a	chr12:104351030-104351043
48	BCLAF1	chr12:104359164-104360165	GM12878	blood:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
49	BCLAF1	chr12:104350708-104351276	K562	blood:	n/a	chr12:104351030-104351043
50	BCLAF1	chr12:104359219-104360094	GM12878	blood:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104359478-104359528	SK-N-MC	brain:	n/a
2	chr12:104359478-104359528	SK-N-MC	brain:	n/a
3	chr12:104351251-104351301	CMK	blood:	n/a
4	chr12:104351300-104351350	SK-N-MC	brain:	n/a
5	chr12:104359248-104359298	HRCEpiC	kidney:	n/a
6	chr12:104359611-104359661	HCT-116	colon:	n/a
7	chr12:104360213-104360263	SK-N-MC	brain:	n/a
8	chr12:104359478-104359528	PANC-1	pancreas:	n/a
9	chr12:104359603-104359653	NB4	blood:	n/a
10	chr12:104359611-104359661	SAEC	small airway:	n/a
11	chr12:104359429-104359479	Caco-2	colon:	n/a
12	chr12:104359478-104359528	PrEC	prostate:	n/a
13	chr12:104359415-104359465	GM19239	blood:	n/a
14	chr12:104359603-104359653	HNPCEpiC	eye:	n/a
15	chr12:104351300-104351350	BJ	skin:	n/a
16	chr12:104359415-104359465	HRE	kidney:	n/a
17	chr12:104351300-104351350	HEEpiC	esophagus:	n/a
18	chr12:104357288-104357338	NHDF-neo	bronchial:	n/a
19	chr12:104360022-104360072	HL-60	blood:	n/a
20	chr12:104360022-104360072	NB4	blood:	n/a
21	chr12:104359611-104359661	SKMC	muscle:	n/a
22	chr12:104359478-104359528	U87	brain:	n/a
23	chr12:104359478-104359528	HEK293	kidney:	embryo
24	chr12:104359248-104359298	RPTEC	kidney:	n/a
25	chr12:104351300-104351350	T-47D	breast:	n/a
26	chr12:104359331-104359381	PrEC	prostate:	n/a
27	chr12:104351300-104351350	NB4	blood:	n/a
28	chr12:104351251-104351301	HCT-116	colon:	n/a
29	chr12:104359732-104359782	HRE	kidney:	n/a
30	chr12:104351201-104351251	GM12878	blood:	n/a
31	chr12:104359732-104359782	AoSMC	blood vessel:	n/a
32	chr12:104351251-104351301	AG04450	lung:	fetal
33	chr12:104351201-104351251	HCT-116	colon:	n/a
34	chr12:104351068-104351118	Hepatocyte	liver:	n/a
35	chr12:104351300-104351350	Jurkat	blood:	n/a
36	chr12:104351251-104351301	BE2_C	brain:	n/a
37	chr12:104351068-104351118	HAEpiC	amniotic membrane:	n/a
38	chr12:104360213-104360263	NHBE	bronchial:	n/a
39	chr12:104359603-104359653	HRCEpiC	kidney:	n/a
40	chr12:104359732-104359782	ECC-1	luminal epithelium:	n/a
41	chr12:104359429-104359479	T-47D	breast:	n/a
42	chr12:104359415-104359465	NHBE	bronchial:	n/a
43	chr12:104359611-104359661	SK-N-MC	brain:	n/a
44	chr12:104351068-104351118	H1-hESC	embryonic stem cell:	embryo
45	chr12:104359415-104359465	HMEC	breast:	n/a
46	chr12:104359611-104359661	HL-60	blood:	n/a
47	chr12:104359248-104359298	HCPEpiC	choroid plexus:	n/a
48	chr12:104359429-104359479	HRE	kidney:	n/a
49	chr12:104360213-104360263	CMK	blood:	n/a
50	chr12:104359429-104359479	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
2	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
3	chr12:104359592..104360252-chr19:7733516..7734441,2	NB4	blood:
4	chr12:104359283..104359845-chr7:99516976..99517824,2	NB4	blood:
5	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
6	chr1:1510326..1510834-chr12:104359688..104360659,2	NB4	blood:
7	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:
8	chr12:104354928..104356634-chr12:104388334..104391099,2	MCF-7	breast:
9	chr12:104359505..104360344-chr5:43018121..43018755,2	Hela-S3	cervix:
10	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
11	chr12:104357292..104359018-chr12:104494120..104496296,2	MCF-7	breast:
12	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
13	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
14	chr12:104359127..104359679-chr2:122288372..122289084,2	Hela-S3	cervix:
15	chr12:104359049..104360010-chr6:105850675..105851420,2	Hela-S3	cervix:
16	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
17	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
18	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
19	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:
20	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:
21	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
22	chr12:104360101..104362239-chr12:104530545..104532165,2	MCF-7	breast:
23	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
24	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
25	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
26	chr11:93474063..93474970-chr12:104359568..104360080,2	NB4	blood:
27	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:
28	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
29	chr1:173835773..173836619-chr12:104350561..104351185,2	Hela-S3	cervix:
30	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
31	chr12:104356512..104358461-chr12:104416021..104418355,2	K562	blood:
32	chr12:102510855..102512497-chr12:104358534..104361115,2	K562	blood:
33	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
34	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
35	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
36	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
37	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:
38	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
39	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
40	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
41	chr12:104324052..104326463-chr12:104355875..104358112,3	MCF-7	breast:
42	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
43	chr12:104359162..104360034-chr8:81398395..81398898,2	NB4	blood:
44	chr12:104322943..104325215-chr12:104358408..104360868,4	MCF-7	breast:
45	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
46	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
47	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:
48	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDG-1	chr12:104356173-104356953	NONHSAT030400
2	lnc-TDG-1	chr12:104352892-104352958	NONHSAT030400
3	lnc-C12orf73-2	chr12:104359294-104359473	NONHSAT030399
4	lnc-C12orf73-2	chr12:104357568-104359481	NONHSAT030401
5	lnc-HSP90B1-1	chr12:104359620-104359838	NONHSAT030402
6	lnc-C12orf73-2	chr12:104359294-104359473	NONHSAT030398
7	lnc-TDG-1	chr12:104357017-104357920	NONHSAT030400

Variant related genes	Relation type
C12orf73	TF binding region
TDG	TF binding region
C12orf73	CpG island
TDG	CpG island
ENSG00000215014	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000136052	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000104918	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000085377	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000177606	chromatin interactions
ENSG00000146833	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000075188	chromatin interactions
ENSG00000205189	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000198431	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs784080	chr12:104351057-104351058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75032187	chr12:104351079-104351080	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs571234259	chr12:104351080-104351081	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs547679536	chr12:104351088-104351089	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs35524009	chr12:104351089-104351090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs555299669	chr12:104351100-104351101	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs2293618	chr12:104351121-104351122	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2293617	chr12:104351135-104351136	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112531953	chr12:104351161-104351162	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs189431832	chr12:104351190-104351191	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs532462186	chr12:104351265-104351266	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs567250865	chr12:104351273-104351274	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs181828831	chr12:104351286-104351287	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs569253652	chr12:104351294-104351295	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs186121865	chr12:104351301-104351302	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs142164036	chr12:104351305-104351306	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs550858480	chr12:104351318-104351319	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs73177939	chr12:104351332-104351333	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs372322425	chr12:104351360-104351361	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs553193965	chr12:104351376-104351377	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs566604808	chr12:104351390-104351391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs538713728	chr12:104351413-104351414	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs537246904	chr12:104351469-104351470	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs539211567	chr12:104351470-104351471	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs558342928	chr12:104351604-104351605	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs34281070	chr12:104351672-104351673	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs139147837	chr12:104351714-104351715	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs61069788	chr12:104351721-104351722	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574474544	chr12:104351729-104351730	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs199587399	chr12:104351763-104351764	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs59616079	chr12:104351764-104351765	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs549601107	chr12:104351774-104351775	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs58478328	chr12:104351776-104351777	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs202098927	chr12:104351785-104351786	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs199997443	chr12:104351788-104351789	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs575030945	chr12:104351813-104351814	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs540468846	chr12:104351818-104351819	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs560299750	chr12:104351823-104351824	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs76799780	chr12:104351994-104351995	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs75617937	chr12:104352030-104352031	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs545906019	chr12:104352052-104352053	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs7306515	chr12:104352078-104352079	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs148160617	chr12:104352192-104352193	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs553064631	chr12:104352219-104352220	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs548287136	chr12:104352247-104352248	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs189788046	chr12:104352278-104352279	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs578073828	chr12:104352283-104352284	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs180674441	chr12:104352309-104352310	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs546844015	chr12:104352333-104352334	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs186588632	chr12:104352340-104352341	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104349200-104351200	Active TSS	NHLF	lung
2	chr12:104349200-104351600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:104349200-104351600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:104349200-104351600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104349200-104351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:104349400-104351600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:104349400-104351600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:104349400-104351600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:104349400-104351600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:104349400-104351600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:104349600-104351200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104349600-104351600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:104349600-104351600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:104349600-104351800	Active TSS	A549	lung
16	chr12:104349600-104352200	Active TSS	K562	blood
17	chr12:104349800-104351400	Active TSS	Left Ventricle	heart
18	chr12:104349800-104351600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:104349800-104351600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:104349800-104351600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:104349800-104351600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:104349800-104351600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:104349800-104351600	Flanking Active TSS	Liver	Liver
24	chr12:104350000-104351200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:104350000-104351400	Active TSS	Fetal Intestine Large	intestine
26	chr12:104350000-104351400	Active TSS	NHDF-Ad	bronchial
27	chr12:104350000-104351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:104350000-104351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:104350000-104351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:104350000-104351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:104350000-104351600	Active TSS	Aorta	Aorta
32	chr12:104350000-104351600	Active TSS	Hela-S3	cervix
33	chr12:104350200-104351200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:104350200-104351200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:104350200-104351200	Active TSS	Fetal Heart	heart
36	chr12:104350200-104351200	Active TSS	Fetal Stomach	stomach
37	chr12:104350200-104351200	Active TSS	Small Intestine	intestine
38	chr12:104350200-104351200	Active TSS	NHEK	skin
39	chr12:104350200-104351200	Active TSS	Osteobl	bone
40	chr12:104350200-104351400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104350200-104351400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:104350200-104351400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:104350200-104351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:104350200-104351400	Active TSS	Fetal Brain Female	brain
45	chr12:104350200-104351400	Active TSS	Fetal Intestine Small	intestine
46	chr12:104350200-104351400	Active TSS	Lung	lung
47	chr12:104350200-104351400	Bivalent/Poised TSS	HepG2	liver
48	chr12:104350200-104351400	Active TSS	HSMMtube	muscle
49	chr12:104350200-104351600	Active TSS	Fetal Brain Male	brain
50	chr12:104350200-104351600	Active TSS	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links