Variant report

Variant	nsv559031
Chromosome Location	chr12:57597169-57602081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:733)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:57599452-57599458	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL2	chr12:57599821-57600277	HepG2	liver:	n/a	n/a
3	MYC	chr12:57599003-57599079	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:57601040-57604259	U87	brain:	n/a	n/a
5	POLR2A	chr12:57598183-57598517	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:57599785-57599995	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:57599797-57600102	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:57598142-57598323	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:57599938-57600206	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:57599236-57600594	U87	brain:	n/a	n/a
11	POLR2A	chr12:57600034-57600047	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:57598335-57598449	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:57596947-57599227	U87	brain:	n/a	n/a
14	POLR2A	chr12:57599675-57600069	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr12:57601371-57601576	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:57601334-57601550	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:57596911-57599227	U87	brain:	n/a	n/a
18	POLR2A	chr12:57599822-57599888	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57599789-57599966	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:57599798-57600143	U87	brain:	n/a	n/a
21	POLR2A	chr12:57599631-57599770	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:57599679-57600148	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr12:57599130-57599969	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:57601069-57604586	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:57597803-57598201	U87	brain:	n/a	n/a
26	POLR2A	chr12:57599076-57599283	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:57597688-57598225	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:57597141-57597336	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:57598465-57598554	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:57599665-57599874	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:57600039-57600199	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:57599992-57600025	K562	blood:	n/a	n/a
33	POLR2A	chr12:57599690-57600359	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:57600798-57600815	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:57601087-57604259	U87	brain:	n/a	n/a
36	POLR2A	chr12:57597803-57598295	U87	brain:	n/a	n/a
37	POLR2A	chr12:57601872-57602302	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:57601834-57601977	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:57600250-57600474	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:57597769-57597986	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:57599973-57600452	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:57600060-57600788	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:57599859-57600095	U87	brain:	n/a	n/a
44	POLR2A	chr12:57598897-57599067	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:57597718-57597948	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:57599230-57600673	U87	brain:	n/a	n/a
47	POLR2A	chr12:57599604-57600245	H1-hESC	embryonic stem cell:	n/a	n/a
48	RFX5	chr12:57600410-57600422	HepG2	liver:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57600427-57600477	BJ	skin:	n/a
2	chr12:57600427-57600477	BJ	skin:	n/a
3	chr12:57597136-57597186	HEEpiC	esophagus:	n/a
4	chr12:57601935-57601985	HEEpiC	esophagus:	n/a
5	chr12:57601671-57601721	HRE	kidney:	n/a
6	chr12:57599358-57599408	Caco-2	colon:	n/a
7	chr12:57600504-57600554	SAEC	small airway:	n/a
8	chr12:57601886-57601936	GM06990	blood:	n/a
9	chr12:57599056-57599106	PFSK-1	brain:	n/a
10	chr12:57601935-57601985	A549	lung:	n/a
11	chr12:57600504-57600554	HCM	heart:	n/a
12	chr12:57601886-57601936	SK-N-SH	brain:	n/a
13	chr12:57601886-57601936	HNPCEpiC	eye:	n/a
14	chr12:57601886-57601936	GM12891	blood:	n/a
15	chr12:57597238-57597288	AoSMC	blood vessel:	n/a
16	chr12:57600427-57600477	MCF10A-Er-Src	breast:	n/a
17	chr12:57601935-57601985	CMK	blood:	n/a
18	chr12:57600504-57600554	GM12878	blood:	n/a
19	chr12:57599056-57599106	HMEC	breast:	n/a
20	chr12:57601671-57601721	HepG2	liver:	n/a
21	chr12:57597238-57597288	ECC-1	luminal epithelium:	n/a
22	chr12:57597770-57597820	Hepatocyte	liver:	n/a
23	chr12:57597238-57597288	AG04449	skin:	fetal
24	chr12:57600504-57600554	H1-hESC	embryonic stem cell:	embryo
25	chr12:57601886-57601936	RPTEC	kidney:	n/a
26	chr12:57597238-57597288	ovcar-3	ovarian:	n/a
27	chr12:57600444-57600494	HNPCEpiC	eye:	n/a
28	chr12:57600504-57600554	BE2_C	brain:	n/a
29	chr12:57601935-57601985	HRCEpiC	kidney:	n/a
30	chr12:57600427-57600477	A549	lung:	n/a
31	chr12:57600504-57600554	K562	blood:	n/a
32	chr12:57599717-57599767	HepG2	liver:	n/a
33	chr12:57601671-57601721	PFSK-1	brain:	n/a
34	chr12:57597770-57597820	AG09319	gingival:	n/a
35	chr12:57601886-57601936	HepG2	liver:	n/a
36	chr12:57600504-57600554	HRPEpiC	eye:	n/a
37	chr12:57601886-57601936	U87	brain:	n/a
38	chr12:57597770-57597820	HepG2	liver:	n/a
39	chr12:57600427-57600477	AG09319	gingival:	n/a
40	chr12:57597770-57597820	HNPCEpiC	eye:	n/a
41	chr12:57597238-57597288	HMEC	breast:	n/a
42	chr12:57600427-57600477	SKMC	muscle:	n/a
43	chr12:57599056-57599106	AoSMC	blood vessel:	n/a
44	chr12:57597770-57597820	GM12891	blood:	n/a
45	chr12:57600504-57600554	NHBE	bronchial:	n/a
46	chr12:57600504-57600554	HCF	heart:	n/a
47	chr12:57597770-57597820	HCM	heart:	n/a
48	chr12:57601935-57601985	HEK293	kidney:	embryo
49	chr12:57599717-57599767	HL-60	blood:	n/a
50	chr12:57601671-57601721	Hepatocyte	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57602021..57603919-chr12:57605356..57607046,2	MCF-7	breast:
2	chr12:57595969..57599532-chr12:57601036..57603352,3	MCF-7	breast:
3	chr12:57585370..57589160-chr12:57594423..57597879,4	K562	blood:
4	chr12:57598445..57603565-chr12:57603905..57607963,7	K562	blood:
5	chr12:57599755..57603082-chr12:57604148..57606889,3	K562	blood:

No data

Variant related genes	Relation type
LRP1	TF binding region
LRP1	CpG island
ENSG00000221365	chromatin interactions
ENSG00000123384	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112819200	chr12:57597169-57597170	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372658738	chr12:57597213-57597214	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377673082	chr12:57597232-57597233	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146774492	chr12:57597253-57597254	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139504424	chr12:57597254-57597255	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371224472	chr12:57597258-57597259	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531186157	chr12:57597259-57597260	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2228192	chr12:57597282-57597283	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36040645	chr12:57597299-57597300	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556195674	chr12:57597303-57597304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375913398	chr12:57597355-57597356	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555511018	chr12:57597379-57597380	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538879059	chr12:57597394-57597395	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553826485	chr12:57597418-57597419	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371398479	chr12:57597436-57597437	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568458002	chr12:57597444-57597445	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200251804	chr12:57597466-57597467	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550665483	chr12:57597470-57597471	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34185879	chr12:57597477-57597478	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369879777	chr12:57597502-57597503	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556559252	chr12:57597512-57597513	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373109379	chr12:57597697-57597698	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541212455	chr12:57597709-57597710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201360762	chr12:57597743-57597744	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560664575	chr12:57597755-57597756	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527872962	chr12:57597771-57597772	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7965424	chr12:57597871-57597872	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35947923	chr12:57597873-57597874	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573185515	chr12:57597913-57597914	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs12370981	chr12:57597918-57597919	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34789881	chr12:57597919-57597920	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565307617	chr12:57597980-57597981	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs532050211	chr12:57598022-57598023	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs547653829	chr12:57598042-57598043	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs566934284	chr12:57598057-57598058	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs536567262	chr12:57598079-57598080	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs536159288	chr12:57598081-57598082	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs554768003	chr12:57598093-57598094	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs555754052	chr12:57598103-57598104	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs528253747	chr12:57598132-57598133	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs371341207	chr12:57598134-57598135	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs376665648	chr12:57598162-57598163	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs369121483	chr12:57598185-57598186	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs372991872	chr12:57598212-57598213	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537003889	chr12:57598233-57598234	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377096781	chr12:57598245-57598246	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569878760	chr12:57598281-57598282	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369617222	chr12:57598302-57598303	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201541007	chr12:57598303-57598304	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201022963	chr12:57598305-57598306	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
15	chr12:57570600-57606800	Strong transcription	Osteobl	bone
16	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
19	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
21	chr12:57576800-57606600	Strong transcription	HepG2	liver
22	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
23	chr12:57577000-57600600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr12:57577000-57600600	Strong transcription	Brain Substantia Nigra	brain
25	chr12:57577000-57606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:57577000-57606400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:57577000-57606400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:57577000-57606400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr12:57577000-57606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:57577000-57606800	Strong transcription	Colonic Mucosa	Colon
31	chr12:57577000-57606800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:57577000-57606800	Strong transcription	Ovary	ovary
33	chr12:57577200-57605800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:57577200-57606000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:57577200-57606400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:57577200-57606400	Strong transcription	Aorta	Aorta
37	chr12:57577200-57606400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:57577200-57606400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:57577200-57606600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:57577200-57606800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:57577200-57606800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:57577200-57606800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:57577200-57606800	Weak transcription	A549	lung
44	chr12:57577400-57606600	Strong transcription	Esophagus	oesophagus
45	chr12:57577600-57606800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:57577600-57607200	Weak transcription	NHEK	skin
47	chr12:57578800-57598400	Weak transcription	Thymus	Thymus
48	chr12:57581800-57604800	Strong transcription	HSMM	muscle
49	chr12:57582600-57607200	Weak transcription	HMEC	breast
50	chr12:57584400-57601000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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