Variant report

Variant	nsv469370
Chromosome Location	chr12:48675783-48711867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:456)
CpG islands
(count:306)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:48697810-48697842	K562	blood:	n/a	n/a
2	ARID3A	chr12:48690330-48690598	K562	blood:	n/a	n/a
3	ARID3A	chr12:48705888-48706088	K562	blood:	n/a	n/a
4	ATF1	chr12:48690322-48690656	K562	blood:	n/a	n/a
5	ATF1	chr12:48675696-48675870	K562	blood:	n/a	n/a
6	ATF1	chr12:48705130-48705435	K562	blood:	n/a	n/a
7	BACH1	chr12:48690123-48690696	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:48690232-48690618	K562	blood:	n/a	n/a
9	BHLHE40	chr12:48690282-48690694	K562	blood:	n/a	n/a
10	BHLHE40	chr12:48705147-48705397	K562	blood:	n/a	n/a
11	CBX3	chr12:48705078-48705457	K562	blood:	n/a	n/a
12	CBX3	chr12:48690262-48690833	K562	blood:	n/a	n/a
13	CCNT2	chr12:48690467-48690661	K562	blood:	n/a	n/a
14	CCNT2	chr12:48705180-48705450	K562	blood:	n/a	n/a
15	CEBPB	chr12:48693069-48693135	K562	blood:	n/a	n/a
16	CEBPB	chr12:48685953-48686039	A549	lung:	n/a	n/a
17	CEBPB	chr12:48685858-48686172	K562	blood:	n/a	n/a
18	CEBPB	chr12:48676827-48676839	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:48691677-48691895	K562	blood:	n/a	n/a
20	CEBPD	chr12:48705016-48705493	K562	blood:	n/a	n/a
21	CHD2	chr12:48690402-48690644	K562	blood:	n/a	n/a
22	CREB1	chr12:48690377-48690682	A549	lung:	n/a	n/a
23	CTCF	chr12:48680524-48680767	H1-hESC	embryonic stem cell:	n/a	chr12:48680655-48680668
24	CTCF	chr12:48680660-48680810	BE2_C	brain:	n/a	n/a
25	CTCF	chr12:48680560-48680710	HVMF	connective:	n/a	chr12:48680655-48680668
26	CTCF	chr12:48680620-48680770	HPAF	blood vessel:	n/a	chr12:48680655-48680668
27	CTCF	chr12:48680583-48680749	Hela-S3	cervix:	n/a	chr12:48680655-48680668
28	CTCF	chr12:48680580-48680730	HMF	breast:	n/a	chr12:48680655-48680668
29	CTCF	chr12:48680600-48680750	GM12871	blood:	n/a	chr12:48680655-48680668
30	CTCF	chr12:48680551-48680735	GM10248	blood:	n/a	chr12:48680655-48680668
31	CTCF	chr12:48680620-48680770	HCPEpiC	choroid plexus:	n/a	chr12:48680655-48680668
32	CTCF	chr12:48690320-48690470	HCM	heart:	n/a	n/a
33	CTCF	chr12:48680620-48680770	HCT-116	colon:	n/a	chr12:48680655-48680668
34	CTCF	chr12:48680560-48680710	GM12869	blood:	n/a	chr12:48680655-48680668
35	CTCF	chr12:48680574-48680702	GM12892	blood:	n/a	chr12:48680655-48680668
36	CTCF	chr12:48680500-48680650	NHEK	skin:	n/a	n/a
37	CTCF	chr12:48680480-48680630	A549	lung:	n/a	n/a
38	CTCF	chr12:48690360-48690510	HAc	cerebellar:	n/a	n/a
39	CTCF	chr12:48680541-48680741	Spleen_OC	spleen:	n/a	chr12:48680655-48680668
40	CTCF	chr12:48680620-48680770	RPTEC	kidney:	n/a	chr12:48680655-48680668
41	CTCF	chr12:48680560-48680710	GM12867	blood:	n/a	chr12:48680655-48680668
42	CTCF	chr12:48680539-48680775	SK-N-SH_RA	brain:	n/a	chr12:48680655-48680668
43	CTCF	chr12:48680600-48680750	HCPEpiC	choroid plexus:	n/a	chr12:48680655-48680668
44	CTCF	chr12:48680540-48680690	HBMEC	blood vessel:	n/a	chr12:48680655-48680668
45	CTCF	chr12:48690300-48690450	HMEC	breast:	n/a	n/a
46	CTCF	chr12:48680620-48680770	AG10803	skin:	n/a	chr12:48680655-48680668
47	CTCF	chr12:48690360-48690510	HMEC	breast:	n/a	n/a
48	CTCF	chr12:48680580-48680730	GM12873	blood:	n/a	chr12:48680655-48680668
49	CTCF	chr12:48680600-48680750	HA-sp	spinal cord:	n/a	chr12:48680655-48680668
50	CTCF	chr12:48680600-48680750	GM06990	blood:	n/a	chr12:48680655-48680668

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48690546-48690596	HCF	heart:	n/a
2	chr12:48690546-48690596	HCF	heart:	n/a
3	chr12:48691036-48691086	PrEC	prostate:	n/a
4	chr12:48690974-48691024	LNCaP	prostate:	n/a
5	chr12:48691036-48691086	HEK293	kidney:	embryo
6	chr12:48690689-48690739	HCT-116	colon:	n/a
7	chr12:48690546-48690596	HAEpiC	amniotic membrane:	n/a
8	chr12:48690546-48690596	HL-60	blood:	n/a
9	chr12:48690974-48691024	MCF-7	breast:	n/a
10	chr12:48690689-48690739	ProgFib	skin:	n/a
11	chr12:48690689-48690739	Hepatocyte	liver:	n/a
12	chr12:48691036-48691086	HIPEpiC	eye:	n/a
13	chr12:48690974-48691024	NHBE	bronchial:	n/a
14	chr12:48690915-48690965	GM12892	blood:	n/a
15	chr12:48690974-48691024	PrEC	prostate:	n/a
16	chr12:48690974-48691024	SK-N-SH_RA	brain:	n/a
17	chr12:48690546-48690596	Caco-2	colon:	n/a
18	chr12:48690689-48690739	IMR90	lung:	fetal
19	chr12:48690546-48690596	HRPEpiC	eye:	n/a
20	chr12:48690546-48690596	H1-hESC	embryonic stem cell:	embryo
21	chr12:48690974-48691024	HMEC	breast:	n/a
22	chr12:48690689-48690739	HRE	kidney:	n/a
23	chr12:48690689-48690739	K562	blood:	n/a
24	chr12:48691036-48691086	AoSMC	blood vessel:	n/a
25	chr12:48691036-48691086	HEEpiC	esophagus:	n/a
26	chr12:48690974-48691024	T-47D	breast:	n/a
27	chr12:48690915-48690965	AG04449	skin:	fetal
28	chr12:48691036-48691086	HUVEC	blood vessel:	n/a
29	chr12:48691036-48691086	HCT-116	colon:	n/a
30	chr12:48690546-48690596	PANC-1	pancreas:	n/a
31	chr12:48690974-48691024	NHDF-neo	bronchial:	n/a
32	chr12:48690546-48690596	HRCEpiC	kidney:	n/a
33	chr12:48690915-48690965	SK-N-SH	brain:	n/a
34	chr12:48691036-48691086	NHBE	bronchial:	n/a
35	chr12:48690546-48690596	AoSMC	blood vessel:	n/a
36	chr12:48690915-48690965	MCF10A-Er-Src	breast:	n/a
37	chr12:48690915-48690965	ProgFib	skin:	n/a
38	chr12:48690546-48690596	HNPCEpiC	eye:	n/a
39	chr12:48690689-48690739	GM06990	blood:	n/a
40	chr12:48691036-48691086	AG04449	skin:	fetal
41	chr12:48690546-48690596	PFSK-1	brain:	n/a
42	chr12:48690689-48690739	U87	brain:	n/a
43	chr12:48690974-48691024	IMR90	lung:	fetal
44	chr12:48690546-48690596	IMR90	lung:	fetal
45	chr12:48690915-48690965	NT2-D1	testis:	n/a
46	chr12:48690689-48690739	HIPEpiC	eye:	n/a
47	chr12:48691036-48691086	AG10803	skin:	n/a
48	chr12:48690915-48690965	HepG2	liver:	n/a
49	chr12:48690974-48691024	GM12891	blood:	n/a
50	chr12:48690689-48690739	HPAEpiC	pulmonary alveolar:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48677853..48680154-chr12:48686621..48688237,2	MCF-7	breast:
2	chr12:48689964..48692021-chr12:48694764..48697453,3	MCF-7	breast:
3	chr12:48699980..48702958-chr12:48704506..48706166,2	K562	blood:
4	chr12:48679787..48682010-chr12:48684412..48686927,2	K562	blood:
5	chr12:48699980..48703428-chr12:48704506..48706488,3	K562	blood:
6	chr12:48683741..48686479-chr12:48688143..48689675,2	K562	blood:
7	chr12:48593487..48595723-chr12:48689162..48691231,3	K562	blood:
8	chr12:48591795..48593507-chr12:48675174..48677324,2	MCF-7	breast:
9	chr12:48680075..48681891-chr12:48683513..48685275,2	MCF-7	breast:
10	chr12:48682061..48686479-chr12:48688143..48691883,6	K562	blood:
11	chr12:48690658..48693372-chr12:48744473..48746338,2	K562	blood:
12	chr12:48698712..48702509-chr12:48702715..48705745,3	MCF-7	breast:
13	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:
14	chr12:48679787..48682010-chr12:48684412..48686927,2	K562	blood:
15	chr12:48680562..48682797-chr12:48688715..48691085,2	MCF-7	breast:
16	chr12:48683741..48686479-chr12:48688143..48689675,2	K562	blood:
17	chr12:48698712..48702509-chr12:48702715..48705745,3	MCF-7	breast:
18	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:
19	chr12:48682061..48686479-chr12:48688143..48691883,6	K562	blood:
20	chr12:48700091..48702915-chr12:48742245..48744697,2	MCF-7	breast:
21	chr12:48691044..48692701-chr12:48738524..48740208,2	K562	blood:
22	chr12:48691251..48692971-chr12:48699862..48702712,2	MCF-7	breast:
23	chr12:48699980..48702958-chr12:48704506..48706166,2	K562	blood:
24	chr12:48699980..48703428-chr12:48704506..48706488,3	K562	blood:
25	chr12:48680248..48681138-chr12:48730039..48730595,2	MCF-7	breast:
26	chr12:48680562..48682797-chr12:48688715..48691085,2	MCF-7	breast:
27	chr12:48704261..48706305-chr12:48731702..48733217,2	K562	blood:
28	chr12:48695552..48697163-chr12:48743180..48744695,2	K562	blood:
29	chr12:48688262..48692290-chr12:48702214..48707293,5	K562	blood:
30	chr12:48678386..48682435-chr12:48742177..48744865,4	MCF-7	breast:
31	chr12:48695827..48697706-chr12:48743436..48745025,2	K562	blood:
32	chr12:48688262..48692290-chr12:48702214..48707293,5	K562	blood:
33	chr12:48689650..48692193-chr12:48742789..48745705,2	K562	blood:
34	chr12:48691251..48692971-chr12:48699862..48702712,2	MCF-7	breast:
35	chr12:48680075..48681891-chr12:48683513..48685275,2	MCF-7	breast:
36	chr12:48689964..48692021-chr12:48694764..48697453,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258234	TF binding region
ENSG00000258234	CpG island
ENSG00000258234	chromatin interactions
ENSG00000269514	chromatin interactions
ENSG00000167528	chromatin interactions
ENSG00000257735	chromatin interactions

Extended variants
information (count: 1066 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2087343	chr12:48675783-48675784	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188351543	chr12:48675803-48675804	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529138286	chr12:48675807-48675808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369027970	chr12:48675838-48675839	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542429744	chr12:48675840-48675841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192176138	chr12:48675859-48675860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76497196	chr12:48675861-48675862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572762793	chr12:48675862-48675863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532353081	chr12:48676016-48676017	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs901964	chr12:48676038-48676039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs564516386	chr12:48676041-48676042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530553713	chr12:48676048-48676049	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536220949	chr12:48676051-48676052	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550666311	chr12:48676057-48676058	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560790440	chr12:48676066-48676067	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184455673	chr12:48676113-48676114	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189751205	chr12:48676164-48676165	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371225972	chr12:48676236-48676237	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142939885	chr12:48676257-48676258	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532853937	chr12:48676322-48676323	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181237621	chr12:48676333-48676334	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569262545	chr12:48676355-48676356	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1844262	chr12:48676356-48676357	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555068454	chr12:48676367-48676368	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376726119	chr12:48676396-48676397	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35167475	chr12:48676532-48676533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536457445	chr12:48676543-48676544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2634699	chr12:48676703-48676704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs572828407	chr12:48676741-48676742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544886606	chr12:48676746-48676747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551364141	chr12:48676833-48676834	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566382837	chr12:48676854-48676855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185975431	chr12:48676874-48676875	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543814258	chr12:48676906-48676907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75584655	chr12:48676957-48676958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188816371	chr12:48677042-48677043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111954900	chr12:48677119-48677120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181912211	chr12:48677137-48677138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56768483	chr12:48677154-48677155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77702283	chr12:48677172-48677173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532891205	chr12:48677240-48677241	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs202031998	chr12:48677330-48677331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552919919	chr12:48677348-48677349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs140311893	chr12:48677349-48677350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs531737229	chr12:48677360-48677361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529630175	chr12:48677374-48677375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548250359	chr12:48677381-48677382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568582590	chr12:48677383-48677384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs534013241	chr12:48677427-48677428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111604125	chr12:48677483-48677484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48672000-48681000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:48673400-48676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48674200-48680200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:48674600-48681000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:48674800-48675800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:48675400-48676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:48675400-48676400	Enhancers	Hela-S3	cervix
8	chr12:48675400-48676800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:48675600-48675800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48675600-48676200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:48675600-48676400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48675800-48676200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr12:48676000-48676200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:48676000-48676200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:48676000-48676400	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr12:48676400-48676800	Enhancers	Primary B cells from cord blood	blood
17	chr12:48676400-48676800	Weak transcription	Hela-S3	cervix
18	chr12:48676400-48679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48676600-48677000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:48676800-48677000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr12:48676800-48677000	Enhancers	Hela-S3	cervix
22	chr12:48677000-48677200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:48677000-48677800	Weak transcription	Hela-S3	cervix
24	chr12:48677000-48680000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:48677200-48677400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:48677400-48680200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:48677800-48678000	Enhancers	Hela-S3	cervix
28	chr12:48678000-48680200	Weak transcription	Hela-S3	cervix
29	chr12:48679400-48680800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:48679400-48681200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:48679600-48680000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:48679600-48680000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:48679600-48680800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:48679600-48680800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:48679600-48680800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:48679600-48680800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:48679600-48680800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:48679800-48680200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:48679800-48680400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:48679800-48680600	Enhancers	Primary T cells from cord blood	blood
41	chr12:48679800-48680800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:48679800-48681000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:48680000-48680200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr12:48680000-48680200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:48680000-48680200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr12:48680000-48680400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:48680000-48680400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr12:48680000-48680400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:48680000-48680400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:48680000-48680400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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