Variant report

Variant	esv1816017
Chromosome Location	chr12:104510676-104531860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:366)
Chromatin interactive
region (count:63)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:104525456-104525662	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:104531844-104532097	HepG2	liver:	n/a	n/a
3	ATF2	chr12:104531677-104532104	GM12878	blood:	n/a	n/a
4	ATF2	chr12:104531766-104532062	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr12:104531777-104532351	A549	lung:	n/a	n/a
6	BACH1	chr12:104531077-104531218	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr12:104531839-104532100	GM12878	blood:	n/a	n/a
8	BCL3	chr12:104531716-104532463	A549	lung:	n/a	chr12:104532036-104532045 chr12:104532401-104532410 chr12:104532174-104532183
9	BCL3	chr12:104514668-104515387	A549	lung:	n/a	chr12:104514969-104514978 chr12:104514891-104514898
10	BCLAF1	chr12:104531764-104532118	GM12878	blood:	n/a	chr12:104532036-104532045
11	BCLAF1	chr12:104531731-104532209	GM12878	blood:	n/a	chr12:104532036-104532045 chr12:104532174-104532183
12	BCLAF1	chr12:104530703-104531373	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:104531812-104532099	GM12878	blood:	n/a	n/a
14	BHLHE40	chr12:104531797-104532337	K562	blood:	n/a	n/a
15	BHLHE40	chr12:104531274-104531321	GM12878	blood:	n/a	n/a
16	BHLHE40	chr12:104531679-104532329	HepG2	liver:	n/a	n/a
17	CBX3	chr12:104531739-104532735	K562	blood:	n/a	n/a
18	CBX3	chr12:104531726-104532544	HCT-116	colon:	n/a	n/a
19	CCNT2	chr12:104531162-104532555	K562	blood:	n/a	chr12:104531268-104531277
20	CEBPB	chr12:104514763-104515233	A549	lung:	n/a	n/a
21	CEBPB	chr12:104531828-104532155	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:104525427-104525762	HepG2	liver:	n/a	n/a
23	CEBPD	chr12:104531596-104531953	HepG2	liver:	n/a	n/a
24	CEBPD	chr12:104531053-104531540	HepG2	liver:	n/a	n/a
25	CHD1	chr12:104530515-104531269	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr12:104530868-104532056	GM12878	blood:	n/a	n/a
27	CHD1	chr12:104531530-104531992	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
29	CHD2	chr12:104531776-104532367	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr12:104531081-104531332	GM12878	blood:	n/a	n/a
31	CHD2	chr12:104531722-104532380	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr12:104531781-104532351	GM12878	blood:	n/a	n/a
33	CHD2	chr12:104531788-104532527	HepG2	liver:	n/a	n/a
34	CREB1	chr12:104531062-104532428	A549	lung:	n/a	n/a
35	CREB1	chr12:104531774-104532259	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr12:104531738-104532379	K562	blood:	n/a	n/a
37	CREB1	chr12:104531728-104532290	HepG2	liver:	n/a	n/a
38	CREB1	chr12:104531759-104532301	GM12878	blood:	n/a	n/a
39	CREB1	chr12:104531748-104532073	A549	lung:	n/a	n/a
40	CREB1	chr12:104531546-104532447	HepG2	liver:	n/a	n/a
41	CTCF	chr12:104531140-104531290	HMEC	breast:	n/a	chr12:104531180-104531201
42	CTCF	chr12:104531005-104531241	K562	blood:	n/a	chr12:104531180-104531201
43	CTCF	chr12:104531060-104531210	Caco-2	colon:	n/a	chr12:104531180-104531201
44	CTCF	chr12:104526200-104526350	BE2_C	brain:	n/a	n/a
45	CTCF	chr12:104531120-104531270	MCF-7	breast:	n/a	chr12:104531180-104531201
46	CTCF	chr12:104531040-104531190	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr12:104526160-104526310	BE2_C	brain:	n/a	n/a
48	CTCF	chr12:104531141-104531294	MCF-7	breast:	n/a	chr12:104531180-104531201
49	CTCF	chr12:104531060-104531210	GM12866	blood:	n/a	chr12:104531180-104531201
50	CTCF	chr12:104531100-104531250	HCM	heart:	n/a	chr12:104531180-104531201

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104528079-104528129	HMEC	breast:	n/a
2	chr12:104516317-104516367	SAEC	small airway:	n/a
3	chr12:104516317-104516367	ECC-1	luminal epithelium:	n/a
4	chr12:104513155-104513205	U87	brain:	n/a
5	chr12:104513155-104513205	Caco-2	colon:	n/a
6	chr12:104528079-104528129	HRCEpiC	kidney:	n/a
7	chr12:104526470-104526520	AG04450	lung:	fetal
8	chr12:104513155-104513205	BE2_C	brain:	n/a
9	chr12:104513155-104513205	HRCEpiC	kidney:	n/a
10	chr12:104528079-104528129	HUVEC	blood vessel:	n/a
11	chr12:104513155-104513205	SAEC	small airway:	n/a
12	chr12:104526470-104526520	GM19239	blood:	n/a
13	chr12:104531175-104531225	SK-N-SH_RA	brain:	n/a
14	chr12:104530941-104530991	K562	blood:	n/a
15	chr12:104516317-104516367	K562	blood:	n/a
16	chr12:104531175-104531225	HAEpiC	amniotic membrane:	n/a
17	chr12:104531175-104531225	HEEpiC	esophagus:	n/a
18	chr12:104530941-104530991	MCF10A-Er-Src	breast:	n/a
19	chr12:104531175-104531225	AG04450	lung:	fetal
20	chr12:104531175-104531225	NH-A	brain:	n/a
21	chr12:104528079-104528129	PrEC	prostate:	n/a
22	chr12:104526470-104526520	Hela-S3	cervix:	n/a
23	chr12:104530941-104530991	Hepatocyte	liver:	n/a
24	chr12:104513155-104513205	IMR90	lung:	fetal
25	chr12:104530941-104530991	HAEpiC	amniotic membrane:	n/a
26	chr12:104513155-104513205	AG09319	gingival:	n/a
27	chr12:104528079-104528129	AG09309	skin:	n/a
28	chr12:104528079-104528129	HEEpiC	esophagus:	n/a
29	chr12:104528079-104528129	Jurkat	blood:	n/a
30	chr12:104516317-104516367	HRPEpiC	eye:	n/a
31	chr12:104531175-104531225	GM12891	blood:	n/a
32	chr12:104531175-104531225	GM12878	blood:	n/a
33	chr12:104531175-104531225	IMR90	lung:	fetal
34	chr12:104513155-104513205	A549	lung:	n/a
35	chr12:104530941-104530991	NHBE	bronchial:	n/a
36	chr12:104530941-104530991	HMEC	breast:	n/a
37	chr12:104526470-104526520	HEEpiC	esophagus:	n/a
38	chr12:104528079-104528129	MCF-7	breast:	n/a
39	chr12:104526470-104526520	SAEC	small airway:	n/a
40	chr12:104531175-104531225	HMEC	breast:	n/a
41	chr12:104530941-104530991	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:104516317-104516367	CMK	blood:	n/a
43	chr12:104530941-104530991	BJ	skin:	n/a
44	chr12:104528079-104528129	SK-N-SH	brain:	n/a
45	chr12:104530941-104530991	AG10803	skin:	n/a
46	chr12:104530941-104530991	Caco-2	colon:	n/a
47	chr12:104513155-104513205	AG09309	skin:	n/a
48	chr12:104528079-104528129	RPTEC	kidney:	n/a
49	chr12:104531175-104531225	ovcar-3	ovarian:	n/a
50	chr12:104513155-104513205	HMEC	breast:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
2	chr12:104500985..104502634-chr12:104512619..104514999,2	MCF-7	breast:
3	chr12:104515373..104518868-chr12:104529903..104532012,3	K562	blood:
4	chr12:104512826..104514662-chr12:104519104..104521337,2	K562	blood:
5	chr12:104263974..104266600-chr12:104512244..104514894,2	MCF-7	breast:
6	chr12:104515519..104518229-chr12:104522556..104526007,3	MCF-7	breast:
7	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
8	chr12:104349379..104352032-chr12:104526783..104528784,2	MCF-7	breast:
9	chr12:104513649..104515856-chr12:104516374..104518763,2	MCF-7	breast:
10	chr12:104517851..104520281-chr12:104522778..104524629,2	K562	blood:
11	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
12	chr12:104529888..104531745-chr12:104641591..104644080,2	MCF-7	breast:
13	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
14	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
15	chr12:104531360..104532346-chr4:185395679..185396224,2	Hela-S3	cervix:
16	chr1:167905681..167906352-chr12:104531146..104532073,2	Hela-S3	cervix:
17	chr12:104531384..104532055-chr2:26568058..26568772,2	Hela-S3	cervix:
18	chr12:104531343..104532062-chr14:24036745..24037302,2	HCT-116	colon:
19	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
20	chr12:104229182..104230973-chr12:104526385..104528264,2	K562	blood:
21	chr12:104512826..104514662-chr12:104519104..104521337,2	K562	blood:
22	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
23	chr12:104531573..104532274-chr3:49058505..49059412,2	Hela-S3	cervix:
24	chr12:104528011..104530810-chr12:104621683..104623795,2	K562	blood:
25	chr12:104503448..104507553-chr12:104508039..104511568,3	MCF-7	breast:
26	chr12:104513301..104516062-chr12:104519027..104521801,2	MCF-7	breast:
27	chr1:154946283..154947051-chr12:104531811..104532400,2	Hela-S3	cervix:
28	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:
29	chr12:104457763..104459399-chr12:104511021..104513721,2	K562	blood:
30	chr12:104322442..104325161-chr12:104524149..104527737,3	K562	blood:
31	chr12:104531449..104532221-chr9:72873633..72874142,2	Hela-S3	cervix:
32	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
33	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
34	chr12:104531363..104532174-chr20:25228138..25229130,2	NB4	blood:
35	chr12:104322442..104325161-chr12:104525155..104527737,2	K562	blood:
36	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
37	chr12:104520948..104523918-chr12:104524437..104526764,3	MCF-7	breast:
38	chr12:104521574..104524477-chr12:105501454..105503015,2	MCF-7	breast:
39	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
40	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
41	chr12:104515821..104520913-chr12:104521669..104524751,4	K562	blood:
42	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
43	chr12:104528672..104531458-chr12:104545242..104548166,2	K562	blood:
44	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
45	chr12:104515821..104520913-chr12:104521669..104524751,4	K562	blood:
46	chr12:72079541..72080318-chr12:104531306..104531990,2	NB4	blood:
47	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
48	chr12:104513301..104516062-chr12:104519027..104521801,2	MCF-7	breast:
49	chr12:104481200..104483346-chr12:104529918..104531545,2	K562	blood:
50	chr12:104512980..104514760-chr12:104522025..104524665,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLT8D2-1	chr12:104529226-104529310	NONHSAT030410
2	lnc-GLT8D2-1	chr12:104524910-104525616	NONHSAT030410

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NFYB	hsa-miR-181a-5p	chr12:104511019-104511040
2	NFYB	hsa-miR-181a-5p	chr12:104513330-104513352
3	NFYB	hsa-miR-30c-5p	chr12:104512873-104512866
4	NFYB	hsa-miR-30c-5p	chr12:104512867-104512889
5	NFYB	hsa-miR-181a-5p	chr12:104513090-104513112
6	NFYB	hsa-miR-181a-5p	chr12:104510936-104510958

Variant related genes	Relation type
NFYB	TF binding region
RNA5SP370	TF binding region
NFYB	CpG island
RNA5SP370	CpG island
ENSG00000143164	chromatin interactions
ENSG00000271646	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000199415	chromatin interactions
ENSG00000257193	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000153721	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000111727	chromatin interactions
ENSG00000198431	chromatin interactions
ENSG00000168310	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000198887	chromatin interactions
ENSG00000136052	chromatin interactions
ENSG00000213983	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000173567	chromatin interactions
ENSG00000268364	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000139291	chromatin interactions

Extended variants
information (count: 668 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11111900	chr12:104510676-104510677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367945156	chr12:104510724-104510725	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560445195	chr12:104510728-104510729	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531213648	chr12:104510730-104510731	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548131805	chr12:104510752-104510753	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190840811	chr12:104510782-104510783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183051460	chr12:104510816-104510817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527845093	chr12:104510862-104510863	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376391932	chr12:104510884-104510885	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554107926	chr12:104510982-104510983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374467543	chr12:104511021-104511022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
12	rs546397847	chr12:104511029-104511030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
13	rs564376761	chr12:104511156-104511157	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs546639110	chr12:104511173-104511174	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs185445006	chr12:104511248-104511249	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531840316	chr12:104511249-104511250	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539987506	chr12:104511250-104511251	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556699621	chr12:104511306-104511307	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576565798	chr12:104511326-104511327	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190697188	chr12:104511330-104511331	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34496617	chr12:104511337-104511338	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542651109	chr12:104511372-104511373	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574677552	chr12:104511373-104511374	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559961701	chr12:104511395-104511396	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs182811793	chr12:104511442-104511443	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs369297403	chr12:104511492-104511493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs140320102	chr12:104511493-104511494	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562255551	chr12:104511650-104511651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs34781342	chr12:104511718-104511719	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142097089	chr12:104511803-104511804	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs547908346	chr12:104511891-104511892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs568035562	chr12:104511929-104511930	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528017465	chr12:104511930-104511931	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548067539	chr12:104511939-104511940	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs571112750	chr12:104511989-104511990	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs73177982	chr12:104512007-104512008	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547699419	chr12:104512056-104512057	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556761135	chr12:104512063-104512064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187894909	chr12:104512146-104512147	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570186305	chr12:104512169-104512170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375714901	chr12:104512203-104512204	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs77150069	chr12:104512213-104512214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2468333	chr12:104512400-104512401	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs150754603	chr12:104512440-104512441	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs78519510	chr12:104512530-104512531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs568908264	chr12:104512540-104512541	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs2723852	chr12:104512551-104512552	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs553659073	chr12:104512577-104512578	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576689770	chr12:104512605-104512606	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs193115633	chr12:104512654-104512655	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 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:1254 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
2	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
3	chr12:104492000-104512400	Weak transcription	HMEC	breast
4	chr12:104493200-104512400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:104493200-104514400	Weak transcription	NHEK	skin
6	chr12:104493400-104511800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:104493400-104513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:104493600-104510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
13	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:104493800-104518400	Weak transcription	Gastric	stomach
15	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104494400-104513600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104494400-104521000	Weak transcription	Lung	lung
21	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
22	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
23	chr12:104494600-104516000	Weak transcription	Fetal Stomach	stomach
24	chr12:104495600-104510800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:104495600-104514200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
27	chr12:104497000-104514200	Weak transcription	NHLF	lung
28	chr12:104497000-104516000	Weak transcription	Ovary	ovary
29	chr12:104497000-104516200	Weak transcription	Left Ventricle	heart
30	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
31	chr12:104497200-104511400	Weak transcription	NH-A	brain
32	chr12:104497400-104513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:104501200-104510800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:104501200-104512400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:104501200-104514800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:104501200-104519000	Weak transcription	K562	blood
37	chr12:104501400-104516000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:104501600-104510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:104501600-104514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
41	chr12:104503000-104512000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:104503000-104516000	Weak transcription	Thymus	Thymus
43	chr12:104503200-104510800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:104503200-104511000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:104503200-104513600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:104503200-104514800	Weak transcription	Brain Anterior Caudate	brain
47	chr12:104503200-104519800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:104503400-104513400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:104503400-104514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:104503600-104514200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links