Variant report

Variant	esv3409514
Chromosome Location	chr12:123993999-123999997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:125)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123995540-123995690	GM12872	blood:	n/a	n/a
2	CTCF	chr12:123995174-123995245	GM10248	blood:	n/a	n/a
3	CTCF	chr12:123995482-123995514	GM19239	blood:	n/a	n/a
4	CTCF	chr12:123997320-123997470	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr12:123995467-123995478	GM19239	blood:	n/a	n/a
6	CTCF	chr12:123995265-123995271	GM13976	blood:	n/a	n/a
7	CTCF	chr12:123995385-123995485	GM13976	blood:	n/a	n/a
8	CTCF	chr12:123997580-123997730	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr12:123995231-123995267	GM19239	blood:	n/a	n/a
10	CTCF	chr12:123997416-123997505	GM19239	blood:	n/a	n/a
11	EGR1	chr12:123997569-123997813	K562	blood:	n/a	n/a
12	EGR1	chr12:123997826-123998068	K562	blood:	n/a	chr12:123997840-123997850 chr12:123997856-123997880
13	EGR1	chr12:123997630-123997978	K562	blood:	n/a	chr12:123997840-123997850 chr12:123997856-123997880
14	EP300	chr12:123996066-123996380	GM12878	blood:	n/a	n/a
15	FOSL2	chr12:123994908-123995288	HepG2	liver:	n/a	n/a
16	FOSL2	chr12:123996017-123996821	HepG2	liver:	n/a	n/a
17	HEY1	chr12:123996300-123996557	K562	blood:	n/a	n/a
18	HMGN3	chr12:123997983-123998102	K562	blood:	n/a	n/a
19	IRF4	chr12:123995075-123995690	GM12878	blood:	n/a	n/a
20	IRF4	chr12:123995993-123997714	GM12878	blood:	n/a	n/a
21	IRF4	chr12:123996105-123997080	GM12878	blood:	n/a	n/a
22	IRF4	chr12:123994884-123995509	GM12878	blood:	n/a	n/a
23	JUND	chr12:123994986-123995442	HepG2	liver:	n/a	n/a
24	MYC	chr12:123996666-123996820	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr12:123996027-123996106	GM12878	blood:	n/a	n/a
26	MYC	chr12:123996547-123996570	HUVEC	blood vessel:	n/a	n/a
27	MYC	chr12:123996460-123996578	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr12:123996910-123997121	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr12:123997136-123997295	HUVEC	blood vessel:	n/a	n/a
30	MYC	chr12:123996454-123996535	HUVEC	blood vessel:	n/a	n/a
31	MYC	chr12:123995568-123995615	HUVEC	blood vessel:	n/a	n/a
32	MYC	chr12:123997563-123997590	HUVEC	blood vessel:	n/a	n/a
33	MYC	chr12:123996595-123996766	HUVEC	blood vessel:	n/a	n/a
34	MYC	chr12:123997648-123997657	HUVEC	blood vessel:	n/a	n/a
35	NR2C2	chr12:123995398-123996229	GM12878	blood:	n/a	n/a
36	NR2C2	chr12:123996577-123997757	GM12878	blood:	n/a	n/a
37	NR3C1	chr12:123995809-123996905	A549	lung:	n/a	n/a
38	NR3C1	chr12:123995379-123997427	A549	lung:	n/a	n/a
39	PAX5	chr12:123996602-123996765	GM12878	blood:	n/a	n/a
40	PAX5	chr12:123996172-123996410	GM12878	blood:	n/a	n/a
41	PAX5	chr12:123996459-123996808	GM12878	blood:	n/a	n/a
42	PAX5	chr12:123994977-123997527	GM12878	blood:	n/a	n/a
43	PAX5	chr12:123995024-123995426	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:123998329-123998886	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:123997136-123997708	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:123995594-123995890	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:123996993-123997809	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr12:123998621-123998895	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr12:123996140-123996812	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:123997126-123997603	Hela-S3	cervix:	n/a	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123998085-123998135	SK-N-SH	brain:	n/a
2	chr12:123998115-123998165	T-47D	breast:	n/a
3	chr12:123998115-123998165	NT2-D1	testis:	n/a
4	chr12:123998085-123998135	SK-N-SH	brain:	n/a
5	chr12:123998115-123998165	T-47D	breast:	n/a
6	chr12:123998115-123998165	NT2-D1	testis:	n/a
7	chr12:123998115-123998165	HMEC	breast:	n/a
8	chr12:123998085-123998135	Caco-2	colon:	n/a
9	chr12:123998115-123998165	SK-N-MC	brain:	n/a
10	chr12:123998115-123998165	ovcar-3	ovarian:	n/a
11	chr12:123998115-123998165	HNPCEpiC	eye:	n/a
12	chr12:123998085-123998135	HEEpiC	esophagus:	n/a
13	chr12:123998115-123998165	NHBE	bronchial:	n/a
14	chr12:123998115-123998165	Hepatocyte	liver:	n/a
15	chr12:123998115-123998165	ECC-1	luminal epithelium:	n/a
16	chr12:123998115-123998165	Caco-2	colon:	n/a
17	chr12:123998115-123998165	HEEpiC	esophagus:	n/a
18	chr12:123998115-123998165	AG04450	lung:	fetal
19	chr12:123998115-123998165	AG04449	skin:	fetal
20	chr12:123998115-123998165	NHDF-neo	bronchial:	n/a
21	chr12:123998085-123998135	SK-N-MC	brain:	n/a
22	chr12:123998085-123998135	ECC-1	luminal epithelium:	n/a
23	chr12:123998085-123998135	GM12891	blood:	n/a
24	chr12:123998085-123998135	IMR90	lung:	fetal
25	chr12:123998115-123998165	BE2_C	brain:	n/a
26	chr12:123998115-123998165	SK-N-SH_RA	brain:	n/a
27	chr12:123998115-123998165	AG09309	skin:	n/a
28	chr12:123998115-123998165	AG09319	gingival:	n/a
29	chr12:123998085-123998135	HUVEC	blood vessel:	n/a
30	chr12:123998085-123998135	AG10803	skin:	n/a
31	chr12:123998085-123998135	PANC-1	pancreas:	n/a
32	chr12:123998115-123998165	Hela-S3	cervix:	n/a
33	chr12:123998115-123998165	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:123998085-123998135	GM12878	blood:	n/a
35	chr12:123998085-123998135	HL-60	blood:	n/a
36	chr12:123998115-123998165	U87	brain:	n/a
37	chr12:123998085-123998135	SAEC	small airway:	n/a
38	chr12:123998115-123998165	GM12892	blood:	n/a
39	chr12:123998115-123998165	PANC-1	pancreas:	n/a
40	chr12:123998115-123998165	ProgFib	skin:	n/a
41	chr12:123998115-123998165	SKMC	muscle:	n/a
42	chr12:123998085-123998135	HNPCEpiC	eye:	n/a
43	chr12:123998115-123998165	HRPEpiC	eye:	n/a
44	chr12:123998085-123998135	HCPEpiC	choroid plexus:	n/a
45	chr12:123998115-123998165	GM06990	blood:	n/a
46	chr12:123998115-123998165	HCF	heart:	n/a
47	chr12:123998115-123998165	K562	blood:	n/a
48	chr12:123998115-123998165	HUVEC	blood vessel:	n/a
49	chr12:123998085-123998135	GM19239	blood:	n/a
50	chr12:123998115-123998165	AoSMC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
2	chr12:123998884..124001416-chr12:124016546..124018370,2	K562	blood:
3	chr12:123991512..123994441-chr12:124007477..124009377,2	MCF-7	breast:
4	chr12:123990733..123992754-chr12:123992876..123995822,2	MCF-7	breast:
5	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
6	chr12:123991748..123994881-chr12:124017334..124019391,3	MCF-7	breast:
7	chr12:123996495..123998550-chr12:124017784..124020121,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595
2	lnc-SNRNP35-2	chr12:123997031-123997972	NONHSAT031595

No data

Variant related genes	Relation type
RILPL1	TF binding region
RILPL1	CpG island
ENSG00000188026	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559388432	chr12:123994044-123994045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527519019	chr12:123994064-123994065	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551933091	chr12:123994087-123994088	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180938237	chr12:123994094-123994095	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13303044	chr12:123994105-123994106	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539130373	chr12:123994106-123994107	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367583334	chr12:123994111-123994112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75550796	chr12:123994128-123994129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537742660	chr12:123994151-123994152	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73412280	chr12:123994155-123994156	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567969847	chr12:123994173-123994174	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58114154	chr12:123994182-123994183	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553617030	chr12:123994247-123994248	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs80183396	chr12:123994250-123994251	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540083987	chr12:123994270-123994271	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368046922	chr12:123994271-123994272	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186348806	chr12:123994280-123994281	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73412281	chr12:123994304-123994305	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140414334	chr12:123994305-123994306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543761814	chr12:123994337-123994338	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144375966	chr12:123994341-123994342	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573966547	chr12:123994372-123994373	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191205644	chr12:123994433-123994434	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77715764	chr12:123994466-123994467	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374497536	chr12:123994491-123994492	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181557021	chr12:123994500-123994501	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186218921	chr12:123994508-123994509	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147830385	chr12:123994521-123994522	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531489985	chr12:123994564-123994565	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549831827	chr12:123994597-123994598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190940752	chr12:123994616-123994617	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535129995	chr12:123994641-123994642	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9330650	chr12:123994669-123994670	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs565819838	chr12:123994676-123994677	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539546619	chr12:123994686-123994687	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141366411	chr12:123994717-123994718	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576582658	chr12:123994765-123994766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537616638	chr12:123994800-123994801	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555821165	chr12:123994806-123994807	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574253809	chr12:123994811-123994812	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543014094	chr12:123994830-123994831	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541115608	chr12:123994837-123994838	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145290967	chr12:123994867-123994868	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577577171	chr12:123994903-123994904	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563988101	chr12:123994912-123994913	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141388319	chr12:123994913-123994914	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545105376	chr12:123994917-123994918	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200328268	chr12:123994931-123994932	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs201432805	chr12:123994955-123994956	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs199744154	chr12:123994979-123994980	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
5	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
8	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:123968800-123995400	Weak transcription	NH-A	brain
12	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:123974600-123995400	Weak transcription	Dnd41	blood
15	chr12:123977400-123994200	Weak transcription	Fetal Heart	heart
16	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:123981600-123994200	Weak transcription	Lung	lung
20	chr12:123981800-123995400	Weak transcription	NHLF	lung
21	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
22	chr12:123982600-123994800	Weak transcription	K562	blood
23	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:123983000-123994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:123983000-123995200	Weak transcription	Fetal Kidney	kidney
26	chr12:123983000-123995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:123983200-123994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:123983400-123994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:123983400-123994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:123983400-123995400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:123983400-123997200	Weak transcription	Liver	Liver
32	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
33	chr12:123984000-123994400	Weak transcription	Ovary	ovary
34	chr12:123984000-123995400	Weak transcription	HSMM	muscle
35	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:123984200-123994200	Weak transcription	Esophagus	oesophagus
37	chr12:123984200-123994400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:123984200-123995200	Weak transcription	Gastric	stomach
39	chr12:123984400-123994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123984400-123994200	Weak transcription	Brain Germinal Matrix	brain
41	chr12:123984400-123994800	Weak transcription	HepG2	liver
42	chr12:123987400-123994200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:123987400-123995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:123989200-123994000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:123989200-123994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:123989600-123994200	Weak transcription	Right Atrium	heart
47	chr12:123990400-123994200	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:123991000-123994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:123991400-123994400	Weak transcription	Right Ventricle	heart
50	chr12:123991400-123994800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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