Variant report

Variant	nsv560434
Chromosome Location	chr12:120534147-120545718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:1037)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:120539237-120539484	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:120542799-120543030	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:120543957-120544185	A549	lung:	n/a	n/a
4	CEBPB	chr12:120544063-120544160	K562	blood:	n/a	n/a
5	CTCF	chr12:120538620-120538770	SK-N-SH_RA	brain:	n/a	chr12:120538714-120538732
6	CTCF	chr12:120540420-120540570	GM12874	blood:	n/a	n/a
7	CTCF	chr12:120540360-120540510	GM12873	blood:	n/a	n/a
8	CTCF	chr12:120535711-120535775	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr12:120544831-120544913	Lung_OC	lung:	n/a	n/a
10	CTCF	chr12:120540657-120540884	NHEK	skin:	n/a	n/a
11	CTCF	chr12:120540429-120540500	NHEK	skin:	n/a	n/a
12	CTCF	chr12:120540708-120540833	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:120540422-120540489	GM19239	blood:	n/a	n/a
14	CTCF	chr12:120540724-120540813	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:120540395-120540508	GM19240	blood:	n/a	n/a
16	CTCF	chr12:120540739-120540821	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:120540413-120540518	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:120540400-120540528	GM12891	blood:	n/a	n/a
19	CTCF	chr12:120540679-120540805	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr12:120540440-120540590	GM12868	blood:	n/a	n/a
21	CTCF	chr12:120540439-120540503	GM19238	blood:	n/a	n/a
22	E2F6	chr12:120539245-120539919	H1-hESC	embryonic stem cell:	n/a	chr12:120539640-120539649
23	ELF1	chr12:120538690-120539656	GM12878	blood:	n/a	n/a
24	EP300	chr12:120539200-120539364	GM12878	blood:	n/a	chr12:120539309-120539323
25	HMGN3	chr12:120534456-120534712	K562	blood:	n/a	n/a
26	HMGN3	chr12:120540552-120540786	K562	blood:	n/a	n/a
27	MAX	chr12:120538450-120538805	SK-N-SH	brain:	n/a	n/a
28	MTA3	chr12:120538856-120539519	GM12878	blood:	n/a	n/a
29	MXI1	chr12:120538037-120538952	IMR90	lung:	n/a	n/a
30	MXI1	chr12:120538132-120539565	SK-N-SH	brain:	n/a	chr12:120539535-120539544
31	MYC	chr12:120538525-120538691	HUVEC	blood vessel:	n/a	n/a
32	NFIC	chr12:120538297-120538949	SK-N-SH	brain:	n/a	chr12:120538578-120538595 chr12:120538578-120538594
33	POLR2A	chr12:120537956-120538190	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:120535958-120536345	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:120535083-120535227	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:120539018-120539224	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:120540165-120540275	K562	blood:	n/a	n/a
38	POLR2A	chr12:120542112-120542531	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:120534228-120535136	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:120540079-120540542	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:120537387-120538675	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:120535893-120536331	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:120534795-120534807	MCF-7	breast:	n/a	n/a
44	POLR2A	chr12:120535979-120536683	GM12892	blood:	n/a	n/a
45	POLR2A	chr12:120534552-120534586	K562	blood:	n/a	n/a
46	POLR2A	chr12:120537499-120537842	GM12891	blood:	n/a	n/a
47	POLR2A	chr12:120541510-120541754	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:120537503-120538450	GM12892	blood:	n/a	n/a
49	POLR2A	chr12:120537362-120537765	K562	blood:	n/a	n/a
50	POLR2A	chr12:120537781-120538208	GM12892	blood:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120535099-120535149	GM12878	blood:	n/a
2	chr12:120534893-120534943	HEK293	kidney:	embryo
3	chr12:120538681-120538731	GM06990	blood:	n/a
4	chr12:120538681-120538731	HRE	kidney:	n/a
5	chr12:120534893-120534943	SAEC	small airway:	n/a
6	chr12:120535099-120535149	HUVEC	blood vessel:	n/a
7	chr12:120541733-120541783	SK-N-SH	brain:	n/a
8	chr12:120541617-120541667	HAEpiC	amniotic membrane:	n/a
9	chr12:120534798-120534848	AG09319	gingival:	n/a
10	chr12:120536939-120536989	HIPEpiC	eye:	n/a
11	chr12:120543182-120543232	ECC-1	luminal epithelium:	n/a
12	chr12:120536813-120536863	AG04450	lung:	fetal
13	chr12:120541733-120541783	HRE	kidney:	n/a
14	chr12:120536939-120536989	MCF-7	breast:	n/a
15	chr12:120541733-120541783	SAEC	small airway:	n/a
16	chr12:120536813-120536863	HRE	kidney:	n/a
17	chr12:120538792-120538842	LNCaP	prostate:	n/a
18	chr12:120545396-120545446	RPTEC	kidney:	n/a
19	chr12:120540895-120540945	H1-hESC	embryonic stem cell:	embryo
20	chr12:120541737-120541787	NT2-D1	testis:	n/a
21	chr12:120545396-120545446	K562	blood:	n/a
22	chr12:120540895-120540945	HCT-116	colon:	n/a
23	chr12:120539137-120539187	AG09309	skin:	n/a
24	chr12:120538681-120538731	Caco-2	colon:	n/a
25	chr12:120541733-120541783	A549	lung:	n/a
26	chr12:120536722-120536772	HUVEC	blood vessel:	n/a
27	chr12:120539137-120539187	PrEC	prostate:	n/a
28	chr12:120536722-120536772	AG04450	lung:	fetal
29	chr12:120536939-120536989	HCM	heart:	n/a
30	chr12:120536939-120536989	AG09319	gingival:	n/a
31	chr12:120540895-120540945	NHDF-neo	bronchial:	n/a
32	chr12:120534893-120534943	SK-N-SH	brain:	n/a
33	chr12:120538792-120538842	GM19239	blood:	n/a
34	chr12:120541399-120541449	GM19239	blood:	n/a
35	chr12:120545396-120545446	SK-N-MC	brain:	n/a
36	chr12:120536722-120536772	AG10803	skin:	n/a
37	chr12:120536722-120536772	Caco-2	colon:	n/a
38	chr12:120535099-120535149	SKMC	muscle:	n/a
39	chr12:120539137-120539187	HRCEpiC	kidney:	n/a
40	chr12:120536813-120536863	HRPEpiC	eye:	n/a
41	chr12:120541617-120541667	NT2-D1	testis:	n/a
42	chr12:120535099-120535149	SK-N-SH_RA	brain:	n/a
43	chr12:120538792-120538842	CMK	blood:	n/a
44	chr12:120540895-120540945	ProgFib	skin:	n/a
45	chr12:120534798-120534848	SK-N-SH_RA	brain:	n/a
46	chr12:120535099-120535149	H1-hESC	embryonic stem cell:	embryo
47	chr12:120540895-120540945	HCF	heart:	n/a
48	chr12:120541399-120541449	HCT-116	colon:	n/a
49	chr12:120538681-120538731	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:120543182-120543232	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr12:120515805..120518721-chr12:120536191..120539691,3	MCF-7	breast:
2	chr12:120538883..120540818-chr12:120636912..120639321,2	MCF-7	breast:
3	chr12:120544989..120547921-chr12:120551976..120557751,6	K562	blood:
4	chr12:120543648..120545256-chr12:120631107..120633184,2	MCF-7	breast:
5	chr12:120539029..120543839-chr12:120726926..120732179,7	MCF-7	breast:
6	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
7	chr12:120538101..120541195-chr12:120726908..120731130,5	MCF-7	breast:
8	chr12:120542824..120544328-chr12:120637481..120639841,2	K562	blood:
9	chr12:120539632..120542312-chr12:120549101..120550620,2	MCF-7	breast:
10	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
11	chr12:120534696..120538363-chr12:120637562..120641387,4	K562	blood:
12	chr12:120541333..120544024-chr12:120545087..120548824,4	K562	blood:
13	chr12:120532676..120534785-chr12:120629802..120632367,2	K562	blood:
14	chr12:120532967..120535127-chr12:120553029..120554673,2	K562	blood:
15	chr12:120542957..120544587-chr12:120544592..120546280,3	MCF-7	breast:
16	chr12:120537048..120541245-chr12:120553607..120557723,6	MCF-7	breast:
17	chr12:120534907..120536863-chr12:120554479..120556422,2	MCF-7	breast:
18	chr12:120544123..120545824-chr12:120573588..120575675,2	MCF-7	breast:
19	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
20	chr12:120542957..120544587-chr12:120544592..120546280,3	MCF-7	breast:
21	chr12:120527971..120531764-chr12:120532118..120535579,5	MCF-7	breast:
22	chr12:120534696..120538363-chr12:120637562..120639888,4	K562	blood:
23	chr12:120536601..120538960-chr12:120539868..120542086,3	K562	blood:
24	chr12:120541504..120543197-chr12:120554093..120555992,2	K562	blood:
25	chr12:120539799..120542911-chr12:120545962..120548810,4	MCF-7	breast:
26	chr12:120524045..120526996-chr12:120539011..120541039,3	MCF-7	breast:
27	chr12:120534614..120537528-chr12:120540036..120541614,2	MCF-7	breast:
28	chr12:120501695..120503857-chr12:120542660..120544781,2	MCF-7	breast:
29	chr12:120513658..120516518-chr12:120532561..120535483,2	MCF-7	breast:
30	chr12:120542078..120544361-chr12:120724685..120726215,2	MCF-7	breast:
31	chr12:120541333..120544024-chr12:120545087..120548824,4	K562	blood:
32	chr12:120531255..120536116-chr12:120549011..120557533,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCN1L1-3	chr12:120532903-120534645	NONHSAT031105

No data

Variant related genes	Relation type
RAB35	TF binding region
RAB35	CpG island
ENSG00000089154	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000255857	chromatin interactions

Extended variants
information (count: 523 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7312244	chr12:120534147-120534148	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376860268	chr12:120534167-120534168	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs530100193	chr12:120534276-120534277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs549607970	chr12:120534284-120534285	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs569514529	chr12:120534314-120534315	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs185179033	chr12:120534418-120534419	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs188990842	chr12:120534446-120534447	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs548226397	chr12:120534469-120534470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs1054631	chr12:120534471-120534472	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138216244	chr12:120534503-120534504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs374910847	chr12:120534507-120534508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs141261867	chr12:120534564-120534565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs574483515	chr12:120534606-120534607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs543534052	chr12:120534609-120534610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs556842637	chr12:120534667-120534668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117978621	chr12:120534673-120534674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181386973	chr12:120534682-120534683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138775890	chr12:120534727-120534728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs149320559	chr12:120534741-120534742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs376818740	chr12:120534752-120534753	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs185668348	chr12:120534756-120534757	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs561118334	chr12:120534759-120534760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs144556851	chr12:120534775-120534776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs148026831	chr12:120534786-120534787	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs141684788	chr12:120534788-120534789	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs532188840	chr12:120534789-120534790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs551922792	chr12:120534792-120534793	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs560719353	chr12:120534804-120534805	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs190030934	chr12:120534826-120534827	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs534572274	chr12:120534850-120534851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs180681655	chr12:120534854-120534855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs147155957	chr12:120534857-120534858	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs75780295	chr12:120534859-120534860	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs571701017	chr12:120534885-120534886	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs567959528	chr12:120534887-120534888	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs373628032	chr12:120534893-120534894	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs557077293	chr12:120534894-120534895	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs55784061	chr12:120534922-120534923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs187211562	chr12:120534955-120534956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs192144057	chr12:120534992-120534993	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs375418695	chr12:120534999-120535000	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs369855756	chr12:120535006-120535007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs372771381	chr12:120535016-120535017	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs572741471	chr12:120535046-120535047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs377220526	chr12:120535082-120535083	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs75263471	chr12:120535092-120535093	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs201852744	chr12:120535097-120535098	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs373426549	chr12:120535099-120535100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs61748076	chr12:120535169-120535170	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs199629313	chr12:120535186-120535187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
2	chr12:120525600-120536000	Weak transcription	NHDF-Ad	bronchial
3	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:120525800-120536200	Weak transcription	Hela-S3	cervix
6	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
9	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:120528400-120536800	Strong transcription	Esophagus	oesophagus
16	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:120528600-120537400	Strong transcription	Gastric	stomach
18	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
19	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:120528600-120538800	Strong transcription	NHEK	skin
21	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:120529000-120546800	Strong transcription	Dnd41	blood
23	chr12:120529200-120537800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:120529400-120535200	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr12:120529400-120538400	Strong transcription	Lung	lung
26	chr12:120529400-120538400	Strong transcription	NHLF	lung
27	chr12:120529600-120538200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:120529600-120538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:120529600-120538200	Weak transcription	Psoas Muscle	Psoas
30	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:120529800-120539200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
33	chr12:120530000-120539200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:120530200-120534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120530200-120535400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:120530200-120536000	Weak transcription	HSMM	muscle
37	chr12:120530400-120537200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:120530400-120538400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:120530600-120534200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:120530800-120534800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:120531000-120535200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:120531200-120534600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:120531600-120537600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:120531800-120538400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:120532000-120534400	Weak transcription	Fetal Lung	lung
47	chr12:120532000-120534400	Weak transcription	HepG2	liver
48	chr12:120532000-120535200	Weak transcription	NH-A	brain
49	chr12:120532000-120536000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr12:120532000-120537800	Strong transcription	Placenta	Placenta

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