Variant report

Variant	esv3431223
Chromosome Location	chr12:49931235-49934833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:734)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:49931662-49931790	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr12:49931825-49932343	A549	lung:	n/a	chr12:49931882-49931895 chr12:49932310-49932319 chr12:49931878-49931891
3	BHLHE40	chr12:49932744-49932828	K562	blood:	n/a	n/a
4	BHLHE40	chr12:49931999-49932001	K562	blood:	n/a	n/a
5	CCNT2	chr12:49932823-49933078	K562	blood:	n/a	n/a
6	CREB1	chr12:49931581-49931900	A549	lung:	n/a	n/a
7	CTBP2	chr12:49931693-49932263	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:49931920-49932070	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr12:49931964-49932067	GM19240	blood:	n/a	n/a
10	CTCF	chr12:49931927-49932175	GM12892	blood:	n/a	n/a
11	CTCF	chr12:49931920-49932070	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr12:49931942-49932190	GM12891	blood:	n/a	n/a
13	CTCF	chr12:49931920-49932070	GM12874	blood:	n/a	n/a
14	CTCF	chr12:49931960-49932110	GM12878	blood:	n/a	n/a
15	CTCF	chr12:49931880-49932030	RPTEC	kidney:	n/a	n/a
16	CTCF	chr12:49932700-49932850	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr12:49932740-49933070	K562	blood:	n/a	n/a
18	CTCF	chr12:49931960-49932110	A549	lung:	n/a	n/a
19	CTCF	chr12:49933580-49933730	GM12870	blood:	n/a	n/a
20	CTCF	chr12:49931280-49931430	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr12:49931958-49932085	A549	lung:	n/a	n/a
22	CTCF	chr12:49932816-49932900	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr12:49931898-49932230	K562	blood:	n/a	chr12:49932205-49932218
24	CTCF	chr12:49931940-49932090	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr12:49931940-49932090	HMF	breast:	n/a	n/a
26	CTCF	chr12:49931920-49932070	NHEK	skin:	n/a	n/a
27	CTCF	chr12:49931957-49932117	GM19238	blood:	n/a	n/a
28	CTCF	chr12:49931760-49931910	GM12874	blood:	n/a	n/a
29	CTCF	chr12:49931892-49932086	K562	blood:	n/a	n/a
30	CTCF	chr12:49931960-49932110	HepG2	liver:	n/a	n/a
31	CTCF	chr12:49931880-49932030	AG04449	skin:	n/a	n/a
32	CTCF	chr12:49931940-49932090	HEK293	kidney:	n/a	n/a
33	CTCF	chr12:49932740-49932890	GM12868	blood:	n/a	n/a
34	CTCF	chr12:49931960-49932110	GM12875	blood:	n/a	n/a
35	CTCF	chr12:49931880-49932030	GM12868	blood:	n/a	n/a
36	CTCF	chr12:49931880-49932030	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr12:49931860-49932010	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr12:49931960-49932210	GM12872	blood:	n/a	n/a
39	CTCF	chr12:49931900-49932050	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr12:49931980-49932130	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr12:49931940-49932090	GM12864	blood:	n/a	n/a
42	CTCF	chr12:49931860-49932010	HCM	heart:	n/a	n/a
43	CTCF	chr12:49931960-49932110	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr12:49931962-49932119	GM12878	blood:	n/a	n/a
45	CTCF	chr12:49931972-49932093	GM10248	blood:	n/a	n/a
46	CTCF	chr12:49931940-49932090	K562	blood:	n/a	n/a
47	CTCF	chr12:49932000-49932150	GM12865	blood:	n/a	n/a
48	CTCF	chr12:49931900-49932050	GM12873	blood:	n/a	n/a
49	CTCF	chr12:49932809-49932914	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr12:49931940-49932090	GM06990	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49932216-49932266	Hepatocyte	liver:	n/a
2	chr12:49932779-49932829	AG04449	skin:	fetal
3	chr12:49932216-49932266	Hepatocyte	liver:	n/a
4	chr12:49932779-49932829	AG04449	skin:	fetal
5	chr12:49932795-49932845	PFSK-1	brain:	n/a
6	chr12:49932860-49932910	AG09319	gingival:	n/a
7	chr12:49931989-49932039	Caco-2	colon:	n/a
8	chr12:49932857-49932907	HepG2	liver:	n/a
9	chr12:49932972-49933022	HRPEpiC	eye:	n/a
10	chr12:49931989-49932039	HMEC	breast:	n/a
11	chr12:49932216-49932266	HCPEpiC	choroid plexus:	n/a
12	chr12:49933636-49933686	HEEpiC	esophagus:	n/a
13	chr12:49932972-49933022	ECC-1	luminal epithelium:	n/a
14	chr12:49931501-49931551	AoSMC	blood vessel:	n/a
15	chr12:49931501-49931551	AG04449	skin:	fetal
16	chr12:49932779-49932829	NB4	blood:	n/a
17	chr12:49932795-49932845	GM19239	blood:	n/a
18	chr12:49932860-49932910	ovcar-3	ovarian:	n/a
19	chr12:49931989-49932039	NH-A	brain:	n/a
20	chr12:49931501-49931551	NHBE	bronchial:	n/a
21	chr12:49934029-49934079	MCF10A-Er-Src	breast:	n/a
22	chr12:49931501-49931551	HL-60	blood:	n/a
23	chr12:49932216-49932266	SK-N-SH_RA	brain:	n/a
24	chr12:49931501-49931551	SKMC	muscle:	n/a
25	chr12:49932779-49932829	GM12892	blood:	n/a
26	chr12:49931989-49932039	HEK293	kidney:	embryo
27	chr12:49932795-49932845	NT2-D1	testis:	n/a
28	chr12:49932289-49932339	CMK	blood:	n/a
29	chr12:49933636-49933686	GM12891	blood:	n/a
30	chr12:49931989-49932039	PFSK-1	brain:	n/a
31	chr12:49934029-49934079	HAEpiC	amniotic membrane:	n/a
32	chr12:49932216-49932266	GM12891	blood:	n/a
33	chr12:49933636-49933686	NH-A	brain:	n/a
34	chr12:49934029-49934079	HMEC	breast:	n/a
35	chr12:49933539-49933589	HIPEpiC	eye:	n/a
36	chr12:49931501-49931551	HepG2	liver:	n/a
37	chr12:49932289-49932339	SAEC	small airway:	n/a
38	chr12:49932795-49932845	HIPEpiC	eye:	n/a
39	chr12:49931989-49932039	CMK	blood:	n/a
40	chr12:49932289-49932339	AG09309	skin:	n/a
41	chr12:49932857-49932907	NH-A	brain:	n/a
42	chr12:49932779-49932829	HEEpiC	esophagus:	n/a
43	chr12:49933539-49933589	AG04449	skin:	fetal
44	chr12:49932795-49932845	HAEpiC	amniotic membrane:	n/a
45	chr12:49933539-49933589	Hepatocyte	liver:	n/a
46	chr12:49933539-49933589	PFSK-1	brain:	n/a
47	chr12:49932289-49932339	HMEC	breast:	n/a
48	chr12:49931501-49931551	AG10803	skin:	n/a
49	chr12:49931501-49931551	PFSK-1	brain:	n/a
50	chr12:49932972-49933022	RPTEC	kidney:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49657477..49660356-chr12:49930384..49933439,3	K562	blood:
2	chr12:49759353..49761548-chr12:49931777..49934189,4	K562	blood:
3	chr12:49657699..49660591-chr12:49932809..49935394,2	MCF-7	breast:
4	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
5	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
6	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
7	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:
8	chr12:49933783..49936509-chr12:49951821..49953726,3	K562	blood:
9	chr12:49934751..49937264-chr12:49959231..49961554,2	MCF-7	breast:
10	chr12:49668500..49671128-chr12:49928861..49931681,2	MCF-7	breast:
11	chr12:49759326..49761606-chr12:49928836..49931818,3	MCF-7	breast:
12	chr12:49759022..49764027-chr12:49928293..49932911,8	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH3-2	chr12:49931669-49931973	NONHSAT028109
2	lnc-KCNH3-2	chr12:49932202-49932791	NONHSAT028109
3	lnc-KCNH3-2	chr12:49931398-49931555	NONHSAT028109

No data

Variant related genes	Relation type
KCNH3	TF binding region
KCNH3	CpG island
ENSG00000187778	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000110844	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572318262	chr12:49931299-49931300	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs572098620	chr12:49931365-49931366	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs541047309	chr12:49931413-49931414	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs373037526	chr12:49931415-49931416	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs564133887	chr12:49931428-49931429	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs190649344	chr12:49931456-49931457	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs554328733	chr12:49931467-49931468	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs549898011	chr12:49931475-49931476	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs563385335	chr12:49931539-49931540	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs529181811	chr12:49931560-49931561	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs11169063	chr12:49931585-49931586	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568094097	chr12:49931611-49931612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs76711001	chr12:49931625-49931626	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs11613183	chr12:49931730-49931731	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1150056	chr12:49931867-49931868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs539554481	chr12:49931881-49931882	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs556707449	chr12:49931895-49931896	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs373174646	chr12:49931915-49931916	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
19	rs576593172	chr12:49932016-49932017	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs536133289	chr12:49932046-49932047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs147890147	chr12:49932053-49932054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs572790949	chr12:49932089-49932090	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs113254438	chr12:49932103-49932104	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs563925924	chr12:49932241-49932242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs181868003	chr12:49932256-49932257	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs545418135	chr12:49932399-49932400	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs543196478	chr12:49932419-49932420	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs563486153	chr12:49932461-49932462	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs370209982	chr12:49932523-49932524	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs529084038	chr12:49932624-49932625	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs548790248	chr12:49932655-49932656	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs559189171	chr12:49932795-49932796	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs369417689	chr12:49932909-49932910	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs528381461	chr12:49932916-49932917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs547340351	chr12:49933078-49933079	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs148933979	chr12:49933229-49933230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs572301658	chr12:49933250-49933251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs372185249	chr12:49933302-49933303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs568746633	chr12:49933315-49933316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs375208681	chr12:49933316-49933317	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs185234319	chr12:49933321-49933322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs374923831	chr12:49933341-49933342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs570153499	chr12:49933410-49933411	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs536020587	chr12:49933419-49933420	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs368441905	chr12:49933455-49933456	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs371530399	chr12:49933459-49933460	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs142759708	chr12:49933514-49933515	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs543015975	chr12:49933622-49933623	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs1797559	chr12:49933631-49933632	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs577604095	chr12:49933654-49933655	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49914400-49931400	Weak transcription	Pancreas	Pancrea
2	chr12:49920200-49931400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:49920600-49931400	Weak transcription	Spleen	Spleen
4	chr12:49929600-49931400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:49929600-49931600	Enhancers	HMEC	breast
6	chr12:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:49929800-49931400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:49929800-49931400	Enhancers	A549	lung
9	chr12:49930200-49931400	Weak transcription	Esophagus	oesophagus
10	chr12:49930400-49931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:49930600-49931400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:49930600-49931400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr12:49930800-49931400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr12:49930800-49931400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr12:49930800-49931400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr12:49930800-49931400	Weak transcription	Hela-S3	cervix
17	chr12:49931000-49931400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr12:49931000-49931400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr12:49931000-49931400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr12:49931000-49931400	Bivalent Enhancer	Fetal Heart	heart
21	chr12:49931000-49931400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr12:49931000-49931400	Bivalent Enhancer	Placenta	Placenta
23	chr12:49931000-49931400	Bivalent Enhancer	NHEK	skin
24	chr12:49931000-49932400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr12:49931200-49931400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:49931200-49931400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49931200-49931400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:49931200-49931400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:49931200-49931400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr12:49931200-49931400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr12:49931200-49931400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:49931200-49931400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:49931200-49931400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:49931200-49931400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:49931200-49931400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:49931200-49931400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:49931200-49931400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:49931200-49931400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:49931200-49931400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:49931200-49931400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr12:49931200-49931400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:49931200-49931400	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr12:49931200-49931400	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr12:49931200-49931400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr12:49931200-49931400	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr12:49931200-49931400	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr12:49931200-49931400	Bivalent Enhancer	Fetal Lung	lung
48	chr12:49931200-49931400	Bivalent Enhancer	Psoas Muscle	Psoas
49	chr12:49931200-49931400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr12:49931200-49931400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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