Variant report

Variant	esv3345428
Chromosome Location	chr12:120553419-120556067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:615)
CpG islands
(count:428)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:120554588-120555633	GM12878	blood:	n/a	n/a
2	ATF2	chr12:120555196-120555664	GM12878	blood:	n/a	n/a
3	ATF3	chr12:120554439-120555028	A549	lung:	n/a	chr12:120554711-120554720
4	ATF3	chr12:120554615-120554833	HepG2	liver:	n/a	chr12:120554711-120554720
5	ATF3	chr12:120554535-120554821	K562	blood:	n/a	chr12:120554711-120554720
6	ATF3	chr12:120554003-120554273	K562	blood:	n/a	chr12:120554215-120554224
7	ATF3	chr12:120555725-120556883	A549	lung:	n/a	n/a
8	ATF3	chr12:120554573-120554773	GM12878	blood:	n/a	chr12:120554711-120554720
9	ATF3	chr12:120554406-120554971	HepG2	liver:	n/a	chr12:120554711-120554720
10	ATF3	chr12:120554415-120555092	A549	lung:	n/a	chr12:120554711-120554720
11	ATF3	chr12:120554445-120554874	K562	blood:	n/a	chr12:120554711-120554720
12	BACH1	chr12:120555789-120556793	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr12:120554680-120555564	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr12:120555632-120556884	A549	lung:	n/a	n/a
15	BCL3	chr12:120554522-120555739	A549	lung:	n/a	chr12:120555156-120555169 chr12:120554609-120554622 chr12:120554525-120554538 chr12:120555031-120555040 chr12:120554615-120554624 chr12:120554586-120554595
16	BCL3	chr12:120554476-120555547	A549	lung:	n/a	chr12:120555156-120555169 chr12:120554609-120554622 chr12:120554525-120554538 chr12:120555031-120555040 chr12:120554615-120554624 chr12:120554586-120554595
17	BCL3	chr12:120555958-120556924	A549	lung:	n/a	n/a
18	BCLAF1	chr12:120555054-120555565	GM12878	blood:	n/a	chr12:120555156-120555169
19	BCLAF1	chr12:120554701-120555751	GM12878	blood:	n/a	chr12:120555156-120555169 chr12:120555031-120555040
20	BHLHE40	chr12:120553655-120553708	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:120553895-120555549	K562	blood:	n/a	chr12:120554995-120555011 chr12:120555148-120555164 chr12:120554694-120554710
22	BHLHE40	chr12:120553896-120555343	HepG2	liver:	n/a	chr12:120554995-120555011 chr12:120555148-120555164 chr12:120554694-120554710
23	BHLHE40	chr12:120553917-120555502	GM12878	blood:	n/a	chr12:120554995-120555011 chr12:120555148-120555164 chr12:120554694-120554710
24	BRCA1	chr12:120553794-120554297	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr12:120553884-120554219	HepG2	liver:	n/a	n/a
26	BRCA1	chr12:120553874-120554282	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr12:120554512-120554893	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr12:120554680-120554846	HepG2	liver:	n/a	n/a
29	BRCA1	chr12:120553965-120554265	GM12878	blood:	n/a	n/a
30	CBX3	chr12:120554404-120555089	K562	blood:	n/a	n/a
31	CBX3	chr12:120553814-120554254	K562	blood:	n/a	n/a
32	CCNT2	chr12:120554099-120555325	K562	blood:	n/a	chr12:120555065-120555074 chr12:120555045-120555054 chr12:120554999-120555008 chr12:120555085-120555094
33	CEBPB	chr12:120554025-120554128	K562	blood:	n/a	n/a
34	CEBPD	chr12:120554430-120555001	HepG2	liver:	n/a	n/a
35	CEBPD	chr12:120554600-120554897	HepG2	liver:	n/a	n/a
36	CHD1	chr12:120554457-120555981	GM12878	blood:	n/a	chr12:120555159-120555169 chr12:120554646-120554656
37	CHD1	chr12:120554878-120554881	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr12:120553718-120554119	GM12878	blood:	n/a	n/a
39	CHD1	chr12:120555170-120555973	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:120553880-120554962	HepG2	liver:	n/a	chr12:120554213-120554223 chr12:120554646-120554656
41	CHD2	chr12:120553860-120555374	Hela-S3	cervix:	n/a	chr12:120555159-120555169 chr12:120554213-120554223 chr12:120554646-120554656
42	CHD2	chr12:120553901-120555409	GM12878	blood:	n/a	chr12:120555159-120555169 chr12:120554213-120554223 chr12:120554646-120554656
43	CHD2	chr12:120553654-120554942	K562	blood:	n/a	chr12:120554213-120554223 chr12:120554646-120554656
44	CHD2	chr12:120553726-120554308	H1-hESC	embryonic stem cell:	n/a	chr12:120554213-120554223
45	CREB1	chr12:120554409-120555042	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr12:120554313-120555196	A549	lung:	n/a	n/a
47	CREB1	chr12:120554771-120555077	A549	lung:	n/a	n/a
48	CTCF	chr12:120554800-120554950	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr12:120554644-120554676	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr12:120554620-120554642	Spleen_OC	spleen:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120554537-120554587	HEEpiC	esophagus:	n/a
2	chr12:120554537-120554587	HEEpiC	esophagus:	n/a
3	chr12:120554537-120554587	MCF10A-Er-Src	breast:	n/a
4	chr12:120554472-120554522	GM12878	blood:	n/a
5	chr12:120554540-120554590	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:120554472-120554522	ECC-1	luminal epithelium:	n/a
7	chr12:120554733-120554783	SK-N-SH_RA	brain:	n/a
8	chr12:120554540-120554590	CMK	blood:	n/a
9	chr12:120554540-120554590	HRE	kidney:	n/a
10	chr12:120554540-120554590	AG10803	skin:	n/a
11	chr12:120554733-120554783	HNPCEpiC	eye:	n/a
12	chr12:120555201-120555251	CMK	blood:	n/a
13	chr12:120554472-120554522	HCF	heart:	n/a
14	chr12:120554540-120554590	GM19239	blood:	n/a
15	chr12:120554733-120554783	MCF-7	breast:	n/a
16	chr12:120554537-120554587	HCF	heart:	n/a
17	chr12:120554472-120554522	HepG2	liver:	n/a
18	chr12:120555510-120555560	MCF-7	breast:	n/a
19	chr12:120554540-120554590	LNCaP	prostate:	n/a
20	chr12:120554733-120554783	AG10803	skin:	n/a
21	chr12:120554540-120554590	SAEC	small airway:	n/a
22	chr12:120554540-120554590	HUVEC	blood vessel:	n/a
23	chr12:120555510-120555560	MCF10A-Er-Src	breast:	n/a
24	chr12:120554537-120554587	HCPEpiC	choroid plexus:	n/a
25	chr12:120555510-120555560	T-47D	breast:	n/a
26	chr12:120554472-120554522	ovcar-3	ovarian:	n/a
27	chr12:120555201-120555251	Hepatocyte	liver:	n/a
28	chr12:120554537-120554587	T-47D	breast:	n/a
29	chr12:120554537-120554587	LNCaP	prostate:	n/a
30	chr12:120555510-120555560	CMK	blood:	n/a
31	chr12:120554472-120554522	MCF-7	breast:	n/a
32	chr12:120554733-120554783	HIPEpiC	eye:	n/a
33	chr12:120554733-120554783	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:120554540-120554590	SK-N-SH_RA	brain:	n/a
35	chr12:120554472-120554522	K562	blood:	n/a
36	chr12:120555201-120555251	SKMC	muscle:	n/a
37	chr12:120555510-120555560	GM06990	blood:	n/a
38	chr12:120554733-120554783	SAEC	small airway:	n/a
39	chr12:120555201-120555251	NHDF-neo	bronchial:	n/a
40	chr12:120554537-120554587	AG04450	lung:	fetal
41	chr12:120555510-120555560	RPTEC	kidney:	n/a
42	chr12:120554537-120554587	HUVEC	blood vessel:	n/a
43	chr12:120554537-120554587	U87	brain:	n/a
44	chr12:120554472-120554522	SK-N-MC	brain:	n/a
45	chr12:120555025-120555075	NB4	blood:	n/a
46	chr12:120555510-120555560	GM12892	blood:	n/a
47	chr12:120555201-120555251	K562	blood:	n/a
48	chr12:120555201-120555251	NT2-D1	testis:	n/a
49	chr12:120555201-120555251	HCT-116	colon:	n/a
50	chr12:120555510-120555560	SAEC	small airway:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
2	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
3	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
4	chr12:120552974..120555854-chr12:120934971..120936620,2	K562	blood:
5	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:
6	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
7	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
8	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
9	chr12:120554994..120557100-chr12:120637245..120639085,2	MCF-7	breast:
10	chr1:161039605..161040134-chr12:120554428..120555097,2	NB4	blood:
11	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
12	chr12:120554667..120555327-chr7:32930978..32931953,2	Hela-S3	cervix:
13	chr12:120554154..120554853-chr15:75493750..75494389,2	MCF-7	breast:
14	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
15	chr12:120555871..120557729-chr12:120701030..120703971,3	MCF-7	breast:
16	chr12:120528996..120531217-chr12:120552975..120554934,2	MCF-7	breast:
17	chr12:120554072..120556853-chr12:120607712..120610177,2	K562	blood:
18	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
19	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
20	chr12:120554694..120555498-chr6:79787850..79788772,2	Hela-S3	cervix:
21	chr12:120554464..120555422-chr13:37574233..37574748,2	NB4	blood:
22	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
23	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
24	chr12:120553041..120557313-chr12:120636619..120640383,10	K562	blood:
25	chr12:120554002..120554524-chr2:21022330..21023236,2	Hela-S3	cervix:
26	chr12:120553957..120557976-chr12:120571615..120578270,6	MCF-7	breast:
27	chr12:120554030..120557390-chr12:120602676..120607116,4	MCF-7	breast:
28	chr12:120537048..120541245-chr12:120553607..120557723,6	MCF-7	breast:
29	chr12:120553857..120555514-chr12:120592469..120594964,2	MCF-7	breast:
30	chr12:120516359..120519600-chr12:120552938..120556302,7	MCF-7	breast:
31	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
32	chr12:120553785..120557408-chr12:120702135..120705915,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC64-1	chr12:120554711-120556800	NONHSAT031106

No data

Variant related genes	Relation type
RAB35	TF binding region
RAB35	CpG island
ENSG00000266704	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000146247	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000186517	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000263913	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000170852	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3782903	chr12:120553432-120553433	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557228468	chr12:120553494-120553495	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs570678097	chr12:120553540-120553541	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs138565707	chr12:120553548-120553549	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs182701814	chr12:120553560-120553561	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs59911114	chr12:120553574-120553575	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573016288	chr12:120553608-120553609	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs541853880	chr12:120553658-120553659	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs555040784	chr12:120553716-120553717	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs144187382	chr12:120553746-120553747	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs75981680	chr12:120553787-120553788	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs11065024	chr12:120553808-120553809	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532569159	chr12:120553851-120553852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs545948952	chr12:120553852-120553853	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs560035659	chr12:120554081-120554082	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs375954127	chr12:120554089-120554090	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs552996737	chr12:120554094-120554095	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs548592850	chr12:120554112-120554113	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs568348588	chr12:120554156-120554157	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs546983563	chr12:120554172-120554173	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs186837728	chr12:120554191-120554192	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs573248143	chr12:120554221-120554222	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs148690017	chr12:120554256-120554257	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs570914311	chr12:120554278-120554279	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs565316860	chr12:120554280-120554281	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs551137632	chr12:120554337-120554338	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs539655965	chr12:120554376-120554377	Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs191322615	chr12:120554466-120554467	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs566783816	chr12:120554467-120554468	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs17525453	chr12:120554520-120554521	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555599646	chr12:120554522-120554523	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs575152511	chr12:120554553-120554554	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs371733258	chr12:120554590-120554591	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs575818867	chr12:120554617-120554618	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs17554139	chr12:120554632-120554633	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs113150102	chr12:120554661-120554662	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs112093552	chr12:120554662-120554663	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs577308075	chr12:120554663-120554664	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs546035193	chr12:120554721-120554722	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
40	rs7961547	chr12:120554724-120554725	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573516364	chr12:120554735-120554736	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
42	rs542175884	chr12:120554737-120554738	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
43	rs373973489	chr12:120554753-120554754	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
44	rs562380896	chr12:120554755-120554756	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
45	rs530932231	chr12:120554759-120554760	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
46	rs182437096	chr12:120554761-120554762	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
47	rs564613875	chr12:120554770-120554771	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs533441825	chr12:120554781-120554782	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
49	rs7972240	chr12:120554802-120554803	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
50	rs566562096	chr12:120554809-120554810	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Sudden cardiac death	19188705	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
Breast cancer	22522925	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120549800-120553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:120551200-120553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:120551600-120553600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:120552200-120553600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
8	chr12:120552200-120553600	Enhancers	Small Intestine	intestine
9	chr12:120552200-120553600	Transcr. at gene 5' and 3'	Hela-S3	cervix
10	chr12:120552200-120554200	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr12:120552400-120553600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
12	chr12:120552400-120553800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:120552400-120553800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr12:120552600-120553600	Enhancers	Ovary	ovary
17	chr12:120552600-120553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:120552600-120553800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:120552600-120553800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:120552600-120553800	Enhancers	Spleen	Spleen
21	chr12:120552600-120554200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:120552600-120554200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:120552600-120554200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:120552800-120553600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:120552800-120553800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:120552800-120553800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:120552800-120554000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:120552800-120554000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:120552800-120554000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:120552800-120554000	Transcr. at gene 5' and 3'	HSMM	muscle
33	chr12:120552800-120554000	Flanking Active TSS	HUVEC	blood vessel
34	chr12:120552800-120554200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:120552800-120554200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr12:120552800-120554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:120552800-120554200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr12:120553000-120553600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:120553000-120553600	Flanking Active TSS	Esophagus	oesophagus
40	chr12:120553000-120553600	Enhancers	Fetal Kidney	kidney
41	chr12:120553000-120553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:120553000-120553600	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:120553000-120553800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120553000-120553800	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr12:120553000-120553800	Enhancers	Fetal Heart	heart
46	chr12:120553000-120553800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr12:120553000-120554000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:120553000-120554000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:120553000-120554000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:120553000-120554000	Flanking Active TSS	Brain Anterior Caudate	brain

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