Variant report

Variant	nsv1053272
Chromosome Location	chr12:121956483-122132477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6376)
CpG islands
(count:5494)
Chromatin interactive
region (count:315)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6376 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122124540-122125133	K562	blood:	n/a	n/a
2	ARID3A	chr12:122017941-122018154	K562	blood:	n/a	n/a
3	ARID3A	chr12:122018011-122018190	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:121976612-121976646	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:122071159-122071506	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:122019328-122019744	K562	blood:	n/a	n/a
7	ARID3A	chr12:122020633-122020806	K562	blood:	n/a	n/a
8	ARID3A	chr12:122120050-122120177	K562	blood:	n/a	n/a
9	ARID3A	chr12:122101745-122101764	K562	blood:	n/a	n/a
10	ARID3A	chr12:122018683-122018732	K562	blood:	n/a	n/a
11	ARID3A	chr12:122062695-122062889	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:121988716-121989265	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:122096998-122097123	K562	blood:	n/a	n/a
14	ARID3A	chr12:121990679-121990839	K562	blood:	n/a	n/a
15	ARID3A	chr12:122066009-122066198	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:122087810-122088089	K562	blood:	n/a	n/a
17	ARID3A	chr12:122124663-122125181	HepG2	liver:	n/a	n/a
18	ARID3A	chr12:122028271-122028796	K562	blood:	n/a	n/a
19	ARID3A	chr12:122020597-122020921	HepG2	liver:	n/a	n/a
20	ARID3A	chr12:122028135-122029040	HepG2	liver:	n/a	n/a
21	ATF1	chr12:122087744-122088134	K562	blood:	n/a	n/a
22	ATF1	chr12:122018919-122019787	K562	blood:	n/a	n/a
23	ATF1	chr12:122017985-122018402	K562	blood:	n/a	n/a
24	ATF1	chr12:122124733-122125221	K562	blood:	n/a	n/a
25	ATF1	chr12:122097935-122098277	K562	blood:	n/a	n/a
26	ATF1	chr12:122095274-122095409	K562	blood:	n/a	n/a
27	ATF1	chr12:122028073-122028702	K562	blood:	n/a	n/a
28	ATF2	chr12:122101721-122102342	GM12878	blood:	n/a	n/a
29	ATF2	chr12:122017812-122018346	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:122027857-122028842	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr12:121972347-121972861	GM12878	blood:	n/a	n/a
32	ATF2	chr12:121972247-121972965	GM12878	blood:	n/a	n/a
33	ATF2	chr12:122065165-122065639	GM12878	blood:	n/a	n/a
34	ATF2	chr12:122017761-122018375	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr12:121960733-121961244	GM12878	blood:	n/a	n/a
36	ATF2	chr12:122101895-122102382	GM12878	blood:	n/a	n/a
37	ATF2	chr12:121990551-121990841	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:122020288-122021177	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr12:122014549-122015345	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr12:121972687-121973145	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr12:121961469-121962278	GM12878	blood:	n/a	n/a
42	ATF2	chr12:121998154-121998779	GM12878	blood:	n/a	n/a
43	ATF2	chr12:122097961-122098205	GM12878	blood:	n/a	n/a
44	ATF2	chr12:122014543-122015074	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr12:122020349-122021357	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr12:122124701-122125363	GM12878	blood:	n/a	n/a
47	ATF2	chr12:122027965-122028707	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr12:122065097-122065582	GM12878	blood:	n/a	n/a
49	ATF2	chr12:122051367-122051749	GM12878	blood:	n/a	n/a
50	ATF2	chr12:122124789-122125176	GM12878	blood:	n/a	n/a

(count:5494 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121978205-121978255	SK-N-SH_RA	brain:	n/a
2	chr12:121975669-121975719	BE2_C	brain:	n/a
3	chr12:121971790-121971840	A549	lung:	n/a
4	chr12:122000960-122001010	HRCEpiC	kidney:	n/a
5	chr12:121978205-121978255	SK-N-SH_RA	brain:	n/a
6	chr12:121975669-121975719	BE2_C	brain:	n/a
7	chr12:121971790-121971840	A549	lung:	n/a
8	chr12:122000960-122001010	HRCEpiC	kidney:	n/a
9	chr12:122124854-122124904	HepG2	liver:	n/a
10	chr12:122018897-122018947	HRPEpiC	eye:	n/a
11	chr12:122079102-122079152	PFSK-1	brain:	n/a
12	chr12:121958802-121958852	NT2-D1	testis:	n/a
13	chr12:122019117-122019167	BE2_C	brain:	n/a
14	chr12:122064389-122064439	SK-N-SH_RA	brain:	n/a
15	chr12:122064254-122064304	AG10803	skin:	n/a
16	chr12:121958832-121958882	GM12878	blood:	n/a
17	chr12:121962881-121962931	HIPEpiC	eye:	n/a
18	chr12:122019525-122019575	PFSK-1	brain:	n/a
19	chr12:122064376-122064426	A549	lung:	n/a
20	chr12:122092127-122092177	HUVEC	blood vessel:	n/a
21	chr12:122020205-122020255	HIPEpiC	eye:	n/a
22	chr12:122028594-122028644	ovcar-3	ovarian:	n/a
23	chr12:122064254-122064304	HUVEC	blood vessel:	n/a
24	chr12:122019080-122019130	GM06990	blood:	n/a
25	chr12:121974146-121974196	HCT-116	colon:	n/a
26	chr12:122019080-122019130	IMR90	lung:	fetal
27	chr12:122108663-122108713	SK-N-SH_RA	brain:	n/a
28	chr12:122125276-122125326	MCF-7	breast:	n/a
29	chr12:122108328-122108378	HCM	heart:	n/a
30	chr12:122096667-122096717	Hela-S3	cervix:	n/a
31	chr12:121973425-121973475	HIPEpiC	eye:	n/a
32	chr12:121972412-121972462	H1-hESC	embryonic stem cell:	embryo
33	chr12:121975121-121975171	PFSK-1	brain:	n/a
34	chr12:122016415-122016465	GM12878	blood:	n/a
35	chr12:122092349-122092399	HIPEpiC	eye:	n/a
36	chr12:121958802-121958852	AG10803	skin:	n/a
37	chr12:121975669-121975719	HUVEC	blood vessel:	n/a
38	chr12:122079300-122079350	HCT-116	colon:	n/a
39	chr12:122015908-122015958	HCM	heart:	n/a
40	chr12:122092127-122092177	SKMC	muscle:	n/a
41	chr12:122019006-122019056	HCT-116	colon:	n/a
42	chr12:121976833-121976883	SK-N-MC	brain:	n/a
43	chr12:122060931-122060981	GM12891	blood:	n/a
44	chr12:122017247-122017297	GM19239	blood:	n/a
45	chr12:122079102-122079152	Caco-2	colon:	n/a
46	chr12:122017052-122017102	AG04450	lung:	fetal
47	chr12:122019080-122019130	Jurkat	blood:	n/a
48	chr12:122096667-122096717	HUVEC	blood vessel:	n/a
49	chr12:122108663-122108713	K562	blood:	n/a
50	chr12:121972602-121972652	HPAEpiC	pulmonary alveolar:	n/a

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr12:121974972..121977558-chr12:122231894..122235040,4	MCF-7	breast:
2	chr12:122114958..122116591-chr12:122123026..122125296,2	K562	blood:
3	chr12:121958031..121962041-chr12:121975290..121977508,3	MCF-7	breast:
4	chr12:121994775..121997316-chr12:122046213..122048505,2	K562	blood:
5	chr12:122009958..122015218-chr12:122015373..122021843,8	K562	blood:
6	chr12:122125224..122127960-chr12:122132175..122134959,2	K562	blood:
7	chr12:122017331..122020300-chr12:122047216..122050900,4	K562	blood:
8	chr12:121991702..121994445-chr12:122229645..122232096,2	MCF-7	breast:
9	chr12:121989434..121989957-chr12:122119628..122120622,2	MCF-7	breast:
10	chr12:122005636..122007541-chr12:122010877..122013772,3	K562	blood:
11	chr12:121974857..121978322-chr12:122063131..122066228,6	MCF-7	breast:
12	chr12:121969447..121972266-chr12:121972288..121974870,3	K562	blood:
13	chr12:121995420..121997431-chr12:122007099..122008897,2	K562	blood:
14	chr12:122064758..122066822-chr12:122089158..122090995,2	K562	blood:
15	chr12:122076056..122078021-chr12:122078121..122080621,2	K562	blood:
16	chr12:121905323..121907586-chr12:121967000..121969065,2	MCF-7	breast:
17	chr12:122011245..122016704-chr12:122016774..122020216,11	MCF-7	breast:
18	chr12:121973342..121977941-chr12:121987524..121992877,7	MCF-7	breast:
19	chr12:122014421..122021664-chr12:122061311..122067896,12	MCF-7	breast:
20	chr12:121990167..121991233-chr12:122119689..122120628,4	MCF-7	breast:
21	chr12:122127208..122129378-chr12:122132253..122133825,2	MCF-7	breast:
22	chr12:121980790..121983030-chr12:121991710..121993807,2	K562	blood:
23	chr12:122063273..122066310-chr12:122238266..122240909,4	MCF-7	breast:
24	chr12:121980790..121983030-chr12:121991710..121993807,2	K562	blood:
25	chr12:121952512..121954763-chr12:121956586..121958850,2	MCF-7	breast:
26	chr12:121956002..121958678-chr12:121968184..121970506,2	MCF-7	breast:
27	chr12:121990167..121991233-chr12:122119689..122120628,4	MCF-7	breast:
28	chr12:121997898..122000701-chr12:122012949..122016939,4	MCF-7	breast:
29	chr12:122018588..122021080-chr12:122238013..122240517,2	MCF-7	breast:
30	chr12:122016950..122018660-chr12:122076435..122078833,2	MCF-7	breast:
31	chr12:122002444..122004054-chr12:122016619..122018594,2	MCF-7	breast:
32	chr12:122085089..122087408-chr12:122095683..122097284,2	K562	blood:
33	chr12:122065145..122067836-chr12:122450179..122451724,2	K562	blood:
34	chr12:121975169..121976051-chr12:122240783..122241487,2	NB4	blood:
35	chr12:122063482..122066048-chr12:122105250..122108485,4	MCF-7	breast:
36	chr12:121963430..121965799-chr12:121969024..121970843,2	K562	blood:
37	chr12:121994532..121997141-chr12:121999615..122001300,2	K562	blood:
38	chr12:121993318..121995830-chr12:122027448..122029552,2	K562	blood:
39	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
40	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:
41	chr12:122120133..122122587-chr12:122231814..122234462,2	K562	blood:
42	chr12:121959310..121962414-chr12:121967014..121969071,3	MCF-7	breast:
43	chr12:122103388..122106454-chr12:122121633..122126620,5	K562	blood:
44	chr12:122062685..122065398-chr12:122241584..122243179,2	MCF-7	breast:
45	chr12:122014468..122016236-chr12:122018350..122021021,2	MCF-7	breast:
46	chr12:121904500..121907610-chr12:122092139..122094849,3	K562	blood:
47	chr12:122036694..122038396-chr12:122040924..122043659,2	MCF-7	breast:
48	chr12:122070438..122071974-chr12:122238811..122240422,2	MCF-7	breast:
49	chr12:122082690..122084493-chr12:122087394..122089536,2	K562	blood:
50	chr12:122119277..122120923-chr12:122122798..122124808,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM120B-2	chr12:122125156-122125192	NONHSAT031436
2	lnc-TMEM120B-2	chr12:122126974-122127177	NONHSAT031436
3	lnc-ORAI1-3	chr12:122041403-122041976	NONHSAT031433
4	lnc-ORAI1-1	chr12:122018697-122019168	ENSG00000256742
5	lnc-ORAI1-1	chr12:122018238-122019168	NONHSAT031432
6	lnc-ORAI1-1	chr12:122031338-122031409	ENSG00000256742
7	lnc-CAMKK2-1	chr12:122065832-122065885	ENSG00000214271
8	lnc-ORAI1-1	chr12:122031338-122031422	NONHSAT031432
9	lnc-TMEM120B-1	chr12:122130465-122130794	NONHSAT031437
10	lnc-TMEM120B-2	chr12:122128146-122128265	NONHSAT031436

No data

Variant related genes	Relation type
MORN3	TF binding region
RNU6-1004P	TF binding region
KDM2B	TF binding region
ORAI1	TF binding region
ENSG00000256742	TF binding region
MORN3	CpG island
RNU6-1004P	CpG island
KDM2B	CpG island
ORAI1	CpG island
ENSG00000256742	CpG island
ENSG00000252393	chromatin interactions
ENSG00000139714	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000141219	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000111203	chromatin interactions
ENSG00000243317	chromatin interactions
ENSG00000163291	chromatin interactions
ENSG00000256646	chromatin interactions
ENSG00000258325	chromatin interactions
ENSG00000142871	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000155100	chromatin interactions
ENSG00000125875	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000178538	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000106588	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000198925	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000106591	chromatin interactions
ENSG00000103415	chromatin interactions
ENSG00000163516	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000253738	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000153406	chromatin interactions
ENSG00000135070	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000110987	chromatin interactions
MATR3	miRNA target sites

Extended variants
information (count: 7204 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:7204 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559720706	chr12:121956494-121956495	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182317581	chr12:121956577-121956578	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149989475	chr12:121956581-121956582	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563481248	chr12:121956614-121956615	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571406678	chr12:121956634-121956635	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549753985	chr12:121956645-121956646	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530909392	chr12:121956647-121956648	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549580915	chr12:121956677-121956678	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567742871	chr12:121956686-121956687	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144200002	chr12:121956716-121956717	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148693185	chr12:121956747-121956748	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144510384	chr12:121956758-121956759	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539397179	chr12:121956779-121956780	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78598195	chr12:121956800-121956801	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569798624	chr12:121956808-121956809	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536734361	chr12:121956962-121956963	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370835056	chr12:121957004-121957005	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573728063	chr12:121957052-121957053	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28438386	chr12:121957118-121957119	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28492704	chr12:121957123-121957124	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185687898	chr12:121957128-121957129	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28487268	chr12:121957158-121957159	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552808009	chr12:121957257-121957258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28625063	chr12:121957282-121957283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545046779	chr12:121957286-121957287	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368444455	chr12:121957388-121957389	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80246214	chr12:121957399-121957400	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530945685	chr12:121957415-121957416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147837030	chr12:121957489-121957490	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530656008	chr12:121957522-121957523	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561551100	chr12:121957555-121957556	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376068410	chr12:121957560-121957561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190217881	chr12:121957612-121957613	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370421359	chr12:121957625-121957626	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528629421	chr12:121957627-121957628	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79248214	chr12:121957635-121957636	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572008339	chr12:121957643-121957644	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544478488	chr12:121957664-121957665	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182034637	chr12:121957734-121957735	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370221282	chr12:121957773-121957774	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569636924	chr12:121957777-121957778	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537172862	chr12:121957804-121957805	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186018763	chr12:121957810-121957811	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567464181	chr12:121957825-121957826	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190389899	chr12:121957852-121957853	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552848907	chr12:121957914-121957915	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552746360	chr12:121957966-121957967	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577544283	chr12:121957983-121957984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374238136	chr12:121957985-121957986	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538528568	chr12:121958047-121958048	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7778 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121928600-121965800	Weak transcription	Hela-S3	cervix
2	chr12:121932000-121974400	Weak transcription	NHEK	skin
3	chr12:121934800-121968200	Weak transcription	Small Intestine	intestine
4	chr12:121938200-121968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
6	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121938400-121957200	Weak transcription	Fetal Lung	lung
8	chr12:121938400-121968600	Weak transcription	Fetal Kidney	kidney
9	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
10	chr12:121938600-121959800	Weak transcription	NH-A	brain
11	chr12:121938800-121968600	Weak transcription	Right Atrium	heart
12	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
13	chr12:121939200-121961600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121939800-121961000	Weak transcription	Colonic Mucosa	Colon
15	chr12:121943800-121968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:121944000-121968400	Weak transcription	Osteobl	bone
17	chr12:121945000-121958200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:121947000-121957000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:121947600-121968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:121947800-121956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:121947800-121968800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:121948000-121958000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:121948000-121960600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:121948000-121968400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
29	chr12:121950400-121956600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:121950600-121958000	Weak transcription	Pancreas	Pancrea
31	chr12:121950600-121958200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:121950800-121958200	Weak transcription	NHLF	lung
33	chr12:121951000-121956600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:121951200-121956800	Weak transcription	NHDF-Ad	bronchial
35	chr12:121951200-121958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:121951200-121958600	Weak transcription	Left Ventricle	heart
37	chr12:121951400-121956600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:121951400-121956600	Weak transcription	Fetal Brain Female	brain
39	chr12:121951400-121957000	Weak transcription	Adipose Nuclei	Adipose
40	chr12:121951400-121957000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:121951400-121958600	Weak transcription	Aorta	Aorta
42	chr12:121951600-121957000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:121951600-121959200	Enhancers	Liver	Liver
44	chr12:121951800-121956800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:121951800-121958000	Weak transcription	Gastric	stomach
46	chr12:121952000-121957000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:121952200-121957600	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:121952400-121956800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:121952400-121958400	Weak transcription	Fetal Heart	heart
50	chr12:121952400-121960600	Weak transcription	Brain Anterior Caudate	brain

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