Variant report

Variant	nsv557459
Chromosome Location	chr12:10560591-10729821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1352)
CpG islands
(count:978)
Chromatin interactive
region (count:27)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10653777-10653877	K562	blood:	n/a	n/a
2	ARID3A	chr12:10563882-10564383	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:10562084-10562332	K562	blood:	n/a	n/a
4	ARID3A	chr12:10592356-10592503	HepG2	liver:	n/a	n/a
5	ATF1	chr12:10562095-10562363	K562	blood:	n/a	n/a
6	ATF2	chr12:10693152-10694036	GM12878	blood:	n/a	n/a
7	ATF2	chr12:10693081-10694102	GM12878	blood:	n/a	n/a
8	ATF2	chr12:10710819-10711219	GM12878	blood:	n/a	n/a
9	ATF2	chr12:10695883-10696624	GM12878	blood:	n/a	n/a
10	ATF2	chr12:10709784-10711202	GM12878	blood:	n/a	n/a
11	ATF2	chr12:10709941-10710817	GM12878	blood:	n/a	n/a
12	ATF2	chr12:10695894-10696491	GM12878	blood:	n/a	n/a
13	BATF	chr12:10583308-10583579	GM12878	blood:	n/a	chr12:10583461-10583472
14	BATF	chr12:10710979-10711269	GM12878	blood:	n/a	chr12:10711145-10711156
15	BATF	chr12:10710332-10710715	GM12878	blood:	n/a	n/a
16	BATF	chr12:10693317-10693939	GM12878	blood:	n/a	chr12:10693650-10693661
17	BATF	chr12:10693300-10693868	GM12878	blood:	n/a	chr12:10693650-10693661
18	BATF	chr12:10696061-10696446	GM12878	blood:	n/a	n/a
19	BATF	chr12:10696036-10696487	GM12878	blood:	n/a	n/a
20	BATF	chr12:10641882-10642185	GM12878	blood:	n/a	chr12:10642014-10642025
21	BATF	chr12:10641906-10642182	GM12878	blood:	n/a	chr12:10642014-10642025
22	BATF	chr12:10598779-10599011	GM12878	blood:	n/a	chr12:10598893-10598904
23	BCL11A	chr12:10696199-10696390	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:10696076-10696426	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:10583293-10583483	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:10693310-10693858	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:10693354-10693625	GM12878	blood:	n/a	n/a
28	BCL11A	chr12:10671811-10671985	GM12878	blood:	n/a	n/a
29	BCL11A	chr12:10710317-10710684	GM12878	blood:	n/a	n/a
30	BCL11A	chr12:10598783-10598965	GM12878	blood:	n/a	n/a
31	BCL3	chr12:10592167-10592607	A549	lung:	n/a	n/a
32	BCL3	chr12:10710259-10710760	GM12878	blood:	n/a	chr12:10710710-10710719
33	BCL3	chr12:10693210-10693959	GM12878	blood:	n/a	n/a
34	BCL3	chr12:10711751-10712163	GM12878	blood:	n/a	chr12:10711876-10711885
35	BCL3	chr12:10693360-10693849	GM12878	blood:	n/a	n/a
36	BCL3	chr12:10696031-10696586	GM12878	blood:	n/a	n/a
37	BCL3	chr12:10695995-10696628	GM12878	blood:	n/a	n/a
38	BCLAF1	chr12:10696071-10696445	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:10709854-10710814	GM12878	blood:	n/a	chr12:10710710-10710719
40	BCLAF1	chr12:10706665-10707710	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:10693217-10694044	GM12878	blood:	n/a	n/a
42	BCLAF1	chr12:10693241-10693808	GM12878	blood:	n/a	n/a
43	BCLAF1	chr12:10714764-10715278	GM12878	blood:	n/a	chr12:10715136-10715145
44	BCLAF1	chr12:10707757-10708159	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:10710383-10710761	GM12878	blood:	n/a	n/a
46	BHLHE40	chr12:10562058-10562261	K562	blood:	n/a	n/a
47	BHLHE40	chr12:10693305-10693679	GM12878	blood:	n/a	n/a
48	BRCA1	chr12:10574950-10575149	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr12:10676248-10676302	GM12878	blood:	n/a	n/a
50	BRCA1	chr12:10724938-10725149	Hela-S3	cervix:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10570179-10570229	SK-N-MC	brain:	n/a
2	chr12:10608067-10608117	SK-N-MC	brain:	n/a
3	chr12:10570179-10570229	SK-N-MC	brain:	n/a
4	chr12:10608067-10608117	SK-N-MC	brain:	n/a
5	chr12:10607538-10607588	HUVEC	blood vessel:	n/a
6	chr12:10607364-10607414	H1-hESC	embryonic stem cell:	embryo
7	chr12:10570179-10570229	AG09319	gingival:	n/a
8	chr12:10658281-10658331	PANC-1	pancreas:	n/a
9	chr12:10588483-10588533	MCF10A-Er-Src	breast:	n/a
10	chr12:10607538-10607588	K562	blood:	n/a
11	chr12:10560602-10560652	Caco-2	colon:	n/a
12	chr12:10658539-10658589	RPTEC	kidney:	n/a
13	chr12:10599740-10599790	SK-N-MC	brain:	n/a
14	chr12:10607538-10607588	NH-A	brain:	n/a
15	chr12:10658425-10658475	HL-60	blood:	n/a
16	chr12:10599740-10599790	HIPEpiC	eye:	n/a
17	chr12:10608067-10608117	AG09309	skin:	n/a
18	chr12:10560602-10560652	AG09309	skin:	n/a
19	chr12:10560602-10560652	Jurkat	blood:	n/a
20	chr12:10583355-10583405	NHDF-neo	bronchial:	n/a
21	chr12:10607364-10607414	SKMC	muscle:	n/a
22	chr12:10588483-10588533	GM12891	blood:	n/a
23	chr12:10605936-10605986	SK-N-SH	brain:	n/a
24	chr12:10607538-10607588	Hepatocyte	liver:	n/a
25	chr12:10607538-10607588	Hela-S3	cervix:	n/a
26	chr12:10588483-10588533	NHBE	bronchial:	n/a
27	chr12:10560602-10560652	GM12891	blood:	n/a
28	chr12:10560602-10560652	NHDF-neo	bronchial:	n/a
29	chr12:10588483-10588533	HCPEpiC	choroid plexus:	n/a
30	chr12:10605936-10605986	RPTEC	kidney:	n/a
31	chr12:10704318-10704368	HAEpiC	amniotic membrane:	n/a
32	chr12:10607538-10607588	SK-N-SH_RA	brain:	n/a
33	chr12:10704009-10704059	T-47D	breast:	n/a
34	chr12:10658281-10658331	Jurkat	blood:	n/a
35	chr12:10570179-10570229	BJ	skin:	n/a
36	chr12:10607538-10607588	HAEpiC	amniotic membrane:	n/a
37	chr12:10588483-10588533	T-47D	breast:	n/a
38	chr12:10658425-10658475	RPTEC	kidney:	n/a
39	chr12:10560602-10560652	BE2_C	brain:	n/a
40	chr12:10605936-10605986	HMEC	breast:	n/a
41	chr12:10583355-10583405	HRCEpiC	kidney:	n/a
42	chr12:10586130-10586180	HRE	kidney:	n/a
43	chr12:10583355-10583405	AG10803	skin:	n/a
44	chr12:10658425-10658475	ProgFib	skin:	n/a
45	chr12:10605936-10605986	T-47D	breast:	n/a
46	chr12:10704074-10704124	Caco-2	colon:	n/a
47	chr12:10583355-10583405	NT2-D1	testis:	n/a
48	chr12:10583355-10583405	H1-hESC	embryonic stem cell:	embryo
49	chr12:10570179-10570229	AoSMC	blood vessel:	n/a
50	chr12:10704009-10704059	AG04449	skin:	fetal

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10484385..10484963-chr12:10714626..10715246,2	MCF-7	breast:
2	chr12:10693047..10695502-chr12:10698886..10701191,2	K562	blood:
3	chr1:28974955..28975586-chr12:10563608..10564342,2	Hela-S3	cervix:
4	chr12:10563346..10565218-chr12:11316267..11318781,2	K562	blood:
5	chr12:10604438..10606172-chr12:10606795..10608691,2	K562	blood:
6	chr12:10305944..10306449-chr12:10714647..10715601,2	MCF-7	breast:
7	chr12:10483978..10484906-chr12:10714545..10715159,3	MCF-7	breast:
8	chr12:10693047..10695502-chr12:10698886..10701191,2	K562	blood:
9	chr12:10392959..10394973-chr12:10709982..10712933,2	MCF-7	breast:
10	chr12:10714679..10715464-chr12:10826841..10827362,2	MCF-7	breast:
11	chr12:10484099..10484956-chr12:10652861..10653779,2	MCF-7	breast:
12	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
13	chr12:10604438..10606172-chr12:10606795..10608691,2	K562	blood:
14	chr12:10514090..10517702-chr12:10563594..10568036,4	K562	blood:
15	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
16	chr12:10714739..10715346-chr12:10902495..10903116,2	K562	blood:
17	chr12:10388060..10389289-chr12:10714524..10715522,5	MCF-7	breast:
18	chr12:10559960..10560793-chrX:131351678..131352452,2	Hela-S3	cervix:
19	chr12:10484044..10484911-chr12:10711156..10712037,3	MCF-7	breast:
20	chr12:10388252..10388816-chr12:10653557..10654233,2	MCF-7	breast:
21	chr12:10484283..10485072-chr12:10714510..10715568,4	K562	blood:
22	chr1:2165020..2165613-chr12:10723245..10724037,2	Hela-S3	cervix:
23	chr12:10388138..10389062-chr12:10714617..10715220,3	K562	blood:
24	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
25	chr12:10561211..10561774-chr17:76182659..76183234,2	Hela-S3	cervix:
26	chr12:10389063..10390009-chr12:10714674..10715483,2	K562	blood:
27	chr12:10722202..10724547-chr12:10764643..10766915,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-2	chr12:10725616-10725820	FPKM1_group_5768_transcript_1
2	lnc-EIF2S3L.1-1	chr12:10706698-10706732	NONHSAT026886
3	lnc-EIF2S3L.1-2	chr12:10727422-10727581	NONHSAT026888
4	lnc-EIF2S3L.1-1	chr12:10705962-10706115	ENSG00000256039
5	lnc-MAGOHB-2	chr12:10703865-10704134	NONHSAT026885
6	lnc-EIF2S3L.1-2	chr12:10725616-10725820	NONHSAT026888
7	lnc-EIF2S3L.1-1	chr12:10709642-10712295	NONHSAT026886
8	lnc-EIF2S3L.1-1	chr12:10709935-10710648	ENSG00000256039
9	lnc-EIF2S3L.1-1	chr12:10709935-10710816	XLOC_009661
10	lnc-EIF2S3L.1-4	chr12:10703809-10704403	NONHSAT026884
11	lnc-EIF2S3L.1-1	chr12:10705979-10706115	XLOC_009661
12	lnc-EIF2S3L.1-6	chr12:10601202-10602083	l_610_chr12:10597245-10602083_whiteBloodCell
13	lnc-EIF2S3L.1-5	chr12:10717846-10718105	predAs_ge08_STYK1_1
14	lnc-EIF2S3L.1-6	chr12:10597246-10597382	l_610_chr12:10597245-10602083_whiteBloodCell
15	lnc-EIF2S3L.1-1	chr12:10705975-10706120	NONHSAT026886
16	lnc-EIF2S3L.1-2	chr12:10727422-10727437	FPKM1_group_5768_transcript_1
17	lnc-EIF2S3L.1-2	chr12:10725617-10725820	XLOC_009662
18	lnc-EIF2S3L.1-2	chr12:10727423-10727581	XLOC_009662

No data

Variant related genes	Relation type
ENSG00000180574	TF binding region
KLRC2	TF binding region
ENSG00000256039	TF binding region
KLRC3	TF binding region
KLRC4	TF binding region
KLRC1	TF binding region
SLC25A39P2	TF binding region
KLRC4-KLRK1	TF binding region
ENSG00000255641	TF binding region
ENSG00000180574	CpG island
KLRC2	CpG island
ENSG00000256039	CpG island
KLRC3	CpG island
KLRC4	CpG island
KLRC1	CpG island
SLC25A39P2	CpG island
KLRC4-KLRK1	CpG island
ENSG00000255641	CpG island
ENSG00000255641	chromatin interactions
ENSG00000205810	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000167900	chromatin interactions
ENSG00000123728	chromatin interactions
ENSG00000256888	chromatin interactions
ENSG00000205809	chromatin interactions
ENSG00000245648	chromatin interactions
ENSG00000134545	chromatin interactions
ENSG00000060140	chromatin interactions
ENSG00000111196	chromatin interactions
DDX5	miRNA target sites
PHKA1	miRNA target sites
E2F5	miRNA target sites
MAP7	miRNA target sites
CMTM4	miRNA target sites
RBM12B	miRNA target sites

Extended variants
information (count: 5273 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:5273 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2734565	chr12:10560591-10560592	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531113375	chr12:10560610-10560611	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2859573	chr12:10560628-10560629	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141197549	chr12:10560658-10560659	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539810651	chr12:10560689-10560690	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs17513986	chr12:10560704-10560705	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561206676	chr12:10560733-10560734	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547022553	chr12:10560748-10560749	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141033405	chr12:10560757-10560758	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535986610	chr12:10560778-10560779	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369783840	chr12:10560785-10560786	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2617169	chr12:10560824-10560825	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs375003904	chr12:10560896-10560897	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35081997	chr12:10560923-10560924	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368529306	chr12:10560943-10560944	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112429327	chr12:10560944-10560945	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375554992	chr12:10560947-10560948	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569223328	chr12:10560956-10560957	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2617170	chr12:10560957-10560958	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
20	rs369175096	chr12:10560997-10560998	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557627010	chr12:10560998-10560999	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542476888	chr12:10561004-10561005	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367770964	chr12:10561016-10561017	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577871470	chr12:10561017-10561018	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs78576578	chr12:10561036-10561037	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553392848	chr12:10561059-10561060	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs150135493	chr12:10561087-10561088	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs542342724	chr12:10561119-10561120	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs34470825	chr12:10561129-10561130	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201053474	chr12:10561178-10561179	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568900395	chr12:10561249-10561250	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373224357	chr12:10561274-10561275	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562265707	chr12:10561276-10561277	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372489994	chr12:10561278-10561279	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2617171	chr12:10561279-10561280	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371030444	chr12:10561323-10561324	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199723474	chr12:10561326-10561327	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187275342	chr12:10561331-10561332	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564478200	chr12:10561350-10561351	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs117700961	chr12:10561353-10561354	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112949739	chr12:10561357-10561358	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547295842	chr12:10561419-10561420	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560497787	chr12:10561422-10561423	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529325423	chr12:10561435-10561436	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115766600	chr12:10561446-10561447	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs80321932	chr12:10561455-10561456	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537904327	chr12:10561456-10561457	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375522379	chr12:10561482-10561483	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202027749	chr12:10561493-10561494	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373322943	chr12:10561520-10561521	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10548600-10564000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:10550600-10562000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:10550800-10564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:10558200-10562200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:10558200-10562200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10558800-10562400	Active TSS	Primary T cells fromperipheralblood	blood
7	chr12:10559600-10561400	Weak transcription	K562	blood
8	chr12:10559600-10561600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:10559600-10561600	Weak transcription	Fetal Thymus	thymus
10	chr12:10559600-10562200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:10559800-10561800	Weak transcription	Hela-S3	cervix
12	chr12:10559800-10562200	Active TSS	Primary T cells from cord blood	blood
13	chr12:10559800-10562400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr12:10559800-10562400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:10559800-10563800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:10559800-10564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:10560000-10561400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:10560000-10561400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:10560200-10561400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:10561400-10561600	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:10561400-10562200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:10561400-10562200	Enhancers	K562	blood
23	chr12:10561400-10562400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:10561600-10561800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:10561600-10562000	Active TSS	Fetal Thymus	thymus
26	chr12:10561600-10562200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:10561600-10562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:10561600-10562200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:10561600-10562200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:10561800-10562200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:10561800-10562200	Enhancers	Hela-S3	cervix
32	chr12:10562000-10562200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:10562000-10562200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:10562000-10562200	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:10562000-10562400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:10562000-10562400	Enhancers	Brain Hippocampus Middle	brain
37	chr12:10562200-10562400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:10562200-10562400	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:10562200-10563000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:10562200-10563600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:10562200-10563800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:10562200-10563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:10562200-10564000	Weak transcription	K562	blood
44	chr12:10562200-10566600	Weak transcription	Hela-S3	cervix
45	chr12:10562200-10572800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:10562400-10563800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:10562400-10563800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:10562400-10563800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:10563000-10564400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:10563600-10563800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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