Variant report

Variant	esv3441873
Chromosome Location	chr12:123333824-123336572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123335460-123335610	HUVEC	blood vessel:	n/a	n/a
2	E2F4	chr12:123336476-123336725	MCF10A-Er-Src	breast:	n/a	n/a
3	EGR1	chr12:123335630-123335824	K562	blood:	n/a	chr12:123335706-123335721
4	FOS	chr12:123336470-123336809	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
5	FOS	chr12:123336418-123336820	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
6	FOS	chr12:123336416-123336801	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
7	FOS	chr12:123335407-123335601	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:123336397-123336786	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
9	FOS	chr12:123336326-123336901	HUVEC	blood vessel:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
10	FOSL2	chr12:123336271-123336957	SK-N-SH	brain:	n/a	chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
11	GABPA	chr12:123336441-123336773	SK-N-SH	brain:	n/a	n/a
12	JUN	chr12:123336377-123336829	HUVEC	blood vessel:	n/a	chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
13	MXI1	chr12:123335330-123335745	IMR90	lung:	n/a	n/a
14	MYC	chr12:123336493-123336741	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr12:123335399-123335487	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr12:123335514-123335538	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr12:123335590-123335597	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr12:123336490-123336670	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr12:123335607-123335612	HUVEC	blood vessel:	n/a	n/a
20	MYC	chr12:123335542-123335577	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr12:123336499-123336693	MCF10A-Er-Src	breast:	n/a	n/a
22	NR3C1	chr12:123336484-123336745	A549	lung:	n/a	chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336534-123336543 chr12:123336610-123336636 chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336657-123336666 chr12:123336658-123336667
23	NR3C1	chr12:123336362-123336883	A549	lung:	n/a	chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336534-123336543 chr12:123336610-123336636 chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336657-123336666 chr12:123336658-123336667
24	PBX3	chr12:123336313-123336794	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr12:123336350-123336826	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:123335459-123335631	K562	blood:	n/a	n/a
27	POLR2A	chr12:123336306-123336944	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:123336246-123337135	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr12:123336258-123336840	U87	brain:	n/a	n/a
30	POLR2A	chr12:123336251-123336907	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:123335557-123335652	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr12:123336179-123337383	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:123333987-123334004	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:123336317-123336517	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:123336235-123336795	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr12:123336169-123336228	HUVEC	blood vessel:	n/a	n/a
37	RAD21	chr12:123336439-123336809	IMR90	lung:	n/a	chr12:123336473-123336486
38	SIN3AK20	chr12:123336398-123336677	SK-N-SH	brain:	n/a	n/a
39	STAT3	chr12:123336483-123336701	MCF10A-Er-Src	breast:	n/a	chr12:123336548-123336555
40	STAT3	chr12:123336473-123336694	MCF10A-Er-Src	breast:	n/a	chr12:123336548-123336555
41	STAT3	chr12:123336473-123336724	MCF10A-Er-Src	breast:	n/a	chr12:123336548-123336555
42	YY1	chr12:123336321-123336751	SK-N-SH	brain:	n/a	chr12:123336508-123336518
43	YY1	chr12:123336401-123336739	SK-N-SH_RA	brain:	n/a	chr12:123336508-123336518

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123334513-123334563	Jurkat	blood:	n/a
2	chr12:123334513-123334563	Jurkat	blood:	n/a
3	chr12:123335687-123335737	K562	blood:	n/a
4	chr12:123335687-123335737	A549	lung:	n/a
5	chr12:123335357-123335407	K562	blood:	n/a
6	chr12:123335687-123335737	ECC-1	luminal epithelium:	n/a
7	chr12:123335444-123335494	MCF-7	breast:	n/a
8	chr12:123335687-123335737	HRE	kidney:	n/a
9	chr12:123335444-123335494	BJ	skin:	n/a
10	chr12:123334709-123334759	ProgFib	skin:	n/a
11	chr12:123334513-123334563	RPTEC	kidney:	n/a
12	chr12:123335444-123335494	GM19239	blood:	n/a
13	chr12:123335687-123335737	AG10803	skin:	n/a
14	chr12:123334513-123334563	BJ	skin:	n/a
15	chr12:123334513-123334563	HCF	heart:	n/a
16	chr12:123335444-123335494	ovcar-3	ovarian:	n/a
17	chr12:123334513-123334563	Caco-2	colon:	n/a
18	chr12:123335357-123335407	HEEpiC	esophagus:	n/a
19	chr12:123334513-123334563	HepG2	liver:	n/a
20	chr12:123336568-123336618	HEK293	kidney:	embryo
21	chr12:123334513-123334563	HRE	kidney:	n/a
22	chr12:123334709-123334759	BJ	skin:	n/a
23	chr12:123334709-123334759	HL-60	blood:	n/a
24	chr12:123334709-123334759	SK-N-SH_RA	brain:	n/a
25	chr12:123335687-123335737	HEK293	kidney:	embryo
26	chr12:123334513-123334563	SK-N-MC	brain:	n/a
27	chr12:123334709-123334759	K562	blood:	n/a
28	chr12:123336568-123336618	SK-N-MC	brain:	n/a
29	chr12:123335444-123335494	HCT-116	colon:	n/a
30	chr12:123336568-123336618	HRPEpiC	eye:	n/a
31	chr12:123335357-123335407	ProgFib	skin:	n/a
32	chr12:123334513-123334563	SK-N-SH_RA	brain:	n/a
33	chr12:123334709-123334759	GM12891	blood:	n/a
34	chr12:123336568-123336618	AG04450	lung:	fetal
35	chr12:123335444-123335494	Caco-2	colon:	n/a
36	chr12:123336568-123336618	CMK	blood:	n/a
37	chr12:123335357-123335407	HNPCEpiC	eye:	n/a
38	chr12:123335444-123335494	HUVEC	blood vessel:	n/a
39	chr12:123336568-123336618	MCF10A-Er-Src	breast:	n/a
40	chr12:123335687-123335737	HCF	heart:	n/a
41	chr12:123335687-123335737	SAEC	small airway:	n/a
42	chr12:123336568-123336618	SAEC	small airway:	n/a
43	chr12:123335444-123335494	RPTEC	kidney:	n/a
44	chr12:123334513-123334563	HEEpiC	esophagus:	n/a
45	chr12:123334709-123334759	Hela-S3	cervix:	n/a
46	chr12:123335357-123335407	CMK	blood:	n/a
47	chr12:123336568-123336618	AoSMC	blood vessel:	n/a
48	chr12:123335444-123335494	AoSMC	blood vessel:	n/a
49	chr12:123335444-123335494	U87	brain:	n/a
50	chr12:123335687-123335737	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:
2	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
3	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
4	chr12:123331248..123334066-chr12:123346925..123349387,2	K562	blood:

Variant related genes	Relation type
HIP1R	TF binding region
HIP1R	CpG island
ENSG00000130787	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3852536	chr12:123333824-123333825	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374988006	chr12:123333862-123333863	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539331640	chr12:123333864-123333865	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374187498	chr12:123333903-123333904	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111779993	chr12:123333942-123333943	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551700613	chr12:123333945-123333946	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367680874	chr12:123333952-123333953	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537058098	chr12:123333975-123333976	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373946696	chr12:123334012-123334013	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534863221	chr12:123334019-123334020	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2292134	chr12:123334033-123334034	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs573425195	chr12:123334034-123334035	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191241871	chr12:123334046-123334047	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2292135	chr12:123334075-123334076	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183097662	chr12:123334120-123334121	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545375682	chr12:123334122-123334123	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368700522	chr12:123334135-123334136	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575500056	chr12:123334169-123334170	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543064202	chr12:123334195-123334196	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561330156	chr12:123334199-123334200	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528578039	chr12:123334212-123334213	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145393918	chr12:123334327-123334328	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559279413	chr12:123334333-123334334	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372319692	chr12:123334349-123334350	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533193550	chr12:123334372-123334373	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35904336	chr12:123334420-123334421	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373368900	chr12:123334433-123334434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145255391	chr12:123334436-123334437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375128048	chr12:123334438-123334439	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35465127	chr12:123334442-123334443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200665144	chr12:123334518-123334519	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59065210	chr12:123334539-123334540	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373090169	chr12:123334544-123334545	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548584172	chr12:123334557-123334558	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370283420	chr12:123334561-123334562	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556979438	chr12:123334571-123334572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375497752	chr12:123334603-123334604	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534393785	chr12:123334643-123334644	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552700131	chr12:123334660-123334661	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375845202	chr12:123334684-123334685	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147270360	chr12:123334710-123334711	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539232427	chr12:123334717-123334718	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557340185	chr12:123334718-123334719	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199779424	chr12:123334726-123334727	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200886571	chr12:123334744-123334745	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201536073	chr12:123334747-123334748	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs148746514	chr12:123334748-123334749	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200503518	chr12:123334750-123334751	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543373503	chr12:123334767-123334768	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542727986	chr12:123334866-123334867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
2	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123322800-123339600	Weak transcription	Dnd41	blood
5	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
13	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:123326600-123335600	Weak transcription	NHLF	lung
16	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
17	chr12:123326600-123345000	Weak transcription	A549	lung
18	chr12:123326800-123335400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
22	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:123327600-123334200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:123327600-123335400	Weak transcription	HUVEC	blood vessel
26	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123328400-123336200	Weak transcription	Placenta	Placenta
30	chr12:123329200-123335600	Weak transcription	Primary T cells from cord blood	blood
31	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:123329400-123341800	Weak transcription	HepG2	liver
34	chr12:123329600-123336600	Strong transcription	Fetal Stomach	stomach
35	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
36	chr12:123330000-123335400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:123330400-123335400	Weak transcription	Right Atrium	heart
39	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:123330800-123334200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:123330800-123335400	Weak transcription	Fetal Brain Male	brain
43	chr12:123330800-123335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:123330800-123336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:123331000-123335400	Weak transcription	Stomach Mucosa	stomach
46	chr12:123331000-123335400	Weak transcription	HMEC	breast
47	chr12:123331000-123337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:123331200-123336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:123331400-123336800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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