Variant report

Variant	esv1842070
Chromosome Location	chr1:222732027-222763235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:584)
CpG islands
(count:183)
Chromatin interactive
region (count:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:222744359-222744552	K562	blood:	n/a	n/a
2	ARID3A	chr1:222763003-222763800	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:222762843-222763644	K562	blood:	n/a	n/a
4	ATF1	chr1:222763073-222763578	K562	blood:	n/a	n/a
5	ATF2	chr1:222755471-222755825	GM12878	blood:	n/a	n/a
6	ATF2	chr1:222762986-222763515	GM12878	blood:	n/a	n/a
7	BACH1	chr1:222736958-222736959	K562	blood:	n/a	n/a
8	BATF	chr1:222755522-222755903	GM12878	blood:	n/a	n/a
9	BATF	chr1:222755515-222755845	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:222755453-222755882	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:222755539-222755759	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:222762984-222763513	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:222762786-222763613	A549	lung:	n/a	n/a
14	BHLHE40	chr1:222756486-222756734	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:222762778-222763748	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:222762930-222763679	HepG2	liver:	n/a	n/a
17	BHLHE40	chr1:222762671-222763916	K562	blood:	n/a	n/a
18	BRCA1	chr1:222762996-222763510	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:222763073-222763564	K562	blood:	n/a	n/a
20	CBX3	chr1:222762863-222764109	K562	blood:	n/a	n/a
21	CEBPB	chr1:222755371-222755867	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:222742498-222742782	K562	blood:	n/a	n/a
23	CEBPB	chr1:222763095-222763295	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:222756646-222756846	HepG2	liver:	n/a	chr1:222756680-222756691
25	CEBPB	chr1:222762743-222763439	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:222755376-222755800	HCT-116	colon:	n/a	n/a
27	CEBPB	chr1:222756618-222756818	K562	blood:	n/a	chr1:222756680-222756691
28	CEBPB	chr1:222755521-222755781	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:222740832-222740861	K562	blood:	n/a	n/a
30	CEBPD	chr1:222763016-222763470	HepG2	liver:	n/a	n/a
31	CHD1	chr1:222763067-222763433	GM12878	blood:	n/a	n/a
32	CHD2	chr1:222762903-222763485	K562	blood:	n/a	n/a
33	CHD2	chr1:222762710-222763552	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:222762983-222763546	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr1:222763062-222763384	HepG2	liver:	n/a	n/a
36	CHD2	chr1:222763066-222763553	GM12878	blood:	n/a	n/a
37	CREB1	chr1:222763073-222763435	A549	lung:	n/a	n/a
38	CREB1	chr1:222762976-222763487	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr1:222762941-222763481	A549	lung:	n/a	n/a
40	CREB1	chr1:222763002-222763752	GM12878	blood:	n/a	n/a
41	CREB1	chr1:222763009-222763499	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr1:222755438-222755829	GM12878	blood:	n/a	n/a
43	CREB1	chr1:222755369-222755926	GM12878	blood:	n/a	n/a
44	CTCF	chr1:222763160-222763310	SAEC	small airway:	n/a	n/a
45	CTCF	chr1:222762840-222762990	AG09309	skin:	n/a	n/a
46	CTCF	chr1:222735100-222735250	GM12873	blood:	n/a	n/a
47	CTCF	chr1:222735200-222735350	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:222735080-222735230	GM12866	blood:	n/a	n/a
49	CTCF	chr1:222762980-222763130	GM12868	blood:	n/a	n/a
50	CTCF	chr1:222735100-222735250	HBMEC	blood vessel:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222759637-222759687	HRCEpiC	kidney:	n/a
2	chr1:222759637-222759687	SK-N-SH_RA	brain:	n/a
3	chr1:222763149-222763199	NH-A	brain:	n/a
4	chr1:222763149-222763199	A549	lung:	n/a
5	chr1:222763149-222763199	RPTEC	kidney:	n/a
6	chr1:222763149-222763199	CMK	blood:	n/a
7	chr1:222759637-222759687	Hepatocyte	liver:	n/a
8	chr1:222759637-222759687	HCPEpiC	choroid plexus:	n/a
9	chr1:222759637-222759687	K562	blood:	n/a
10	chr1:222763046-222763096	ProgFib	skin:	n/a
11	chr1:222759637-222759687	RPTEC	kidney:	n/a
12	chr1:222759637-222759687	PrEC	prostate:	n/a
13	chr1:222763046-222763096	HRPEpiC	eye:	n/a
14	chr1:222763046-222763096	AG10803	skin:	n/a
15	chr1:222763149-222763199	HAEpiC	amniotic membrane:	n/a
16	chr1:222763149-222763199	LNCaP	prostate:	n/a
17	chr1:222763046-222763096	BE2_C	brain:	n/a
18	chr1:222763046-222763096	MCF-7	breast:	n/a
19	chr1:222763149-222763199	HCF	heart:	n/a
20	chr1:222763046-222763096	A549	lung:	n/a
21	chr1:222759637-222759687	GM06990	blood:	n/a
22	chr1:222763149-222763199	ECC-1	luminal epithelium:	n/a
23	chr1:222759637-222759687	AG04450	lung:	fetal
24	chr1:222759637-222759687	SKMC	muscle:	n/a
25	chr1:222763149-222763199	NT2-D1	testis:	n/a
26	chr1:222759637-222759687	HEEpiC	esophagus:	n/a
27	chr1:222759637-222759687	LNCaP	prostate:	n/a
28	chr1:222763149-222763199	GM12892	blood:	n/a
29	chr1:222763046-222763096	GM12878	blood:	n/a
30	chr1:222759637-222759687	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:222763046-222763096	PrEC	prostate:	n/a
32	chr1:222763149-222763199	MCF10A-Er-Src	breast:	n/a
33	chr1:222763046-222763096	HL-60	blood:	n/a
34	chr1:222763149-222763199	HRCEpiC	kidney:	n/a
35	chr1:222759637-222759687	HL-60	blood:	n/a
36	chr1:222759637-222759687	AG04449	skin:	fetal
37	chr1:222763046-222763096	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:222763149-222763199	HEK293	kidney:	embryo
39	chr1:222759637-222759687	AG09319	gingival:	n/a
40	chr1:222759637-222759687	NT2-D1	testis:	n/a
41	chr1:222763149-222763199	GM12891	blood:	n/a
42	chr1:222759637-222759687	HepG2	liver:	n/a
43	chr1:222763149-222763199	K562	blood:	n/a
44	chr1:222763149-222763199	HCT-116	colon:	n/a
45	chr1:222763149-222763199	ProgFib	skin:	n/a
46	chr1:222763046-222763096	AG04449	skin:	fetal
47	chr1:222763149-222763199	PFSK-1	brain:	n/a
48	chr1:222763046-222763096	Hela-S3	cervix:	n/a
49	chr1:222763046-222763096	SK-N-SH	brain:	n/a
50	chr1:222759637-222759687	A549	lung:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222731700..222734250-chr1:222758511..222761201,3	K562	blood:
2	chr1:222762024..222764722-chr1:222816738..222818394,2	MCF-7	breast:
3	chr1:222736245..222737818-chr1:222743428..222745666,2	K562	blood:
4	chr1:222748508..222750746-chr1:222752040..222754517,3	K562	blood:
5	chr1:222752431..222755203-chr1:222757791..222760402,3	MCF-7	breast:
6	chr1:222735151..222737667-chr1:222771171..222774025,2	K562	blood:
7	chr1:222751301..222753492-chr1:222754246..222756592,3	K562	blood:
8	chr1:222760324..222762063-chr1:222884419..222886498,2	K562	blood:
9	chr1:222752431..222755203-chr1:222757791..222760402,3	MCF-7	breast:
10	chr1:222747881..222749778-chr1:222751683..222754115,2	MCF-7	breast:
11	chr1:222746416..222749268-chr1:222884399..222887306,2	K562	blood:
12	chr1:222751301..222753492-chr1:222754246..222756592,3	K562	blood:
13	chr1:222753738..222756100-chr1:222759051..222761719,2	MCF-7	breast:
14	chr1:222735935..222738524-chr1:222739039..222741294,2	K562	blood:
15	chr1:222736887..222738609-chr1:222790613..222792920,2	MCF-7	breast:
16	chr1:222742299..222744982-chr1:222750553..222752361,2	MCF-7	breast:
17	chr1:222724484..222728107-chr1:222728855..222732774,4	K562	blood:
18	chr1:222740610..222743248-chr1:222753754..222755473,2	K562	blood:
19	chr1:222753738..222756100-chr1:222759051..222761719,2	MCF-7	breast:
20	chr1:222731468..222733360-chr1:222941211..222943133,2	K562	blood:
21	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
22	chr1:222740584..222742691-chr1:222788730..222791557,2	K562	blood:
23	chr1:222739220..222742946-chr1:222744858..222747647,3	K562	blood:
24	chr1:222748011..222750721-chr1:222758316..222760837,2	MCF-7	breast:
25	chr1:222735935..222738524-chr1:222739039..222741294,2	K562	blood:
26	chr1:222731700..222734250-chr1:222758511..222761201,3	K562	blood:
27	chr1:222737305..222739948-chr1:222766255..222768391,2	K562	blood:
28	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
29	chr1:222740610..222743248-chr1:222753754..222755473,2	K562	blood:
30	chr1:222735227..222738969-chr1:222739039..222743402,4	K562	blood:
31	chr1:222736282..222738012-chr1:222762260..222764333,2	MCF-7	breast:
32	chr1:222755495..222757533-chr1:222758954..222760766,2	K562	blood:
33	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
34	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
35	chr1:222755495..222757533-chr1:222758954..222760766,2	K562	blood:
36	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
37	chr1:222747881..222749778-chr1:222751683..222754115,2	MCF-7	breast:
38	chr1:222735227..222738969-chr1:222739039..222743402,4	K562	blood:
39	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
40	chr1:222748508..222750746-chr1:222752040..222754517,3	K562	blood:
41	chr1:222757935..222759839-chr1:222790959..222792467,2	K562	blood:
42	chr1:222745681..222747916-chr1:222884399..222887309,3	K562	blood:
43	chr1:222736167..222737997-chr1:222772404..222774025,2	K562	blood:
44	chr1:222762853..222764726-chr1:222816205..222818798,3	MCF-7	breast:
45	chr1:222750081..222757071-chr1:222758123..222764755,12	K562	blood:
46	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
47	chr1:222739220..222742946-chr1:222744858..222747647,3	K562	blood:
48	chr1:222748011..222750721-chr1:222758316..222760837,2	MCF-7	breast:
49	chr1:222759001..222761767-chr1:222763501..222765317,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIA3-2	chr1:222763167-222763304	ENSG00000225265.1

No data

Variant related genes	Relation type
TAF1A	TF binding region
ENSG00000225265	TF binding region
TAF1A	CpG island
ENSG00000225265	CpG island
ENSG00000225265	chromatin interactions
ENSG00000154305	chromatin interactions
ENSG00000186063	chromatin interactions
ENSG00000162819	chromatin interactions
ENSG00000143498	chromatin interactions

Extended variants
information (count: 1095 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1095 , 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	rs76003336	chr1:222732027-222732028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369299238	chr1:222732037-222732038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200425120	chr1:222732045-222732046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143557200	chr1:222732051-222732052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376662321	chr1:222732052-222732053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115540438	chr1:222732140-222732141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79358305	chr1:222732156-222732157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374049634	chr1:222732163-222732164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550404756	chr1:222732169-222732170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181116364	chr1:222732214-222732215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540070659	chr1:222732271-222732272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571039609	chr1:222732294-222732295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571773104	chr1:222732303-222732304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77528657	chr1:222732420-222732421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559890597	chr1:222732431-222732432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113366494	chr1:222732471-222732472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568048383	chr1:222732514-222732515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143757037	chr1:222732560-222732561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555410220	chr1:222732617-222732618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117540273	chr1:222732638-222732639	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4481859	chr1:222732656-222732657	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs80291548	chr1:222732662-222732663	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147209943	chr1:222732727-222732728	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545217436	chr1:222732907-222732908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553548290	chr1:222732920-222732921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572247475	chr1:222732932-222732933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548652016	chr1:222732933-222732934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542672300	chr1:222732941-222732942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10495193	chr1:222732968-222732969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17163214	chr1:222733017-222733018	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186056837	chr1:222733025-222733026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190468376	chr1:222733060-222733061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532689294	chr1:222733081-222733082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184097806	chr1:222733149-222733150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566234643	chr1:222733156-222733157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527382812	chr1:222733208-222733209	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549070453	chr1:222733243-222733244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567284248	chr1:222733257-222733258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17163217	chr1:222733309-222733310	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377479408	chr1:222733310-222733311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555863693	chr1:222733327-222733328	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545655437	chr1:222733345-222733346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571565526	chr1:222733385-222733386	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571199634	chr1:222733423-222733424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187001814	chr1:222733483-222733484	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571865038	chr1:222733497-222733498	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191105402	chr1:222733550-222733551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182411091	chr1:222733589-222733590	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370720332	chr1:222733592-222733593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540118455	chr1:222733719-222733720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1308 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
3	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:222720800-222742400	Weak transcription	NHLF	lung
5	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
6	chr1:222721000-222733000	Weak transcription	NH-A	brain
7	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
10	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:222723800-222742400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:222724000-222733400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:222725200-222733600	Weak transcription	Colonic Mucosa	Colon
16	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:222726600-222736800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:222727200-222737200	Strong transcription	Primary B cells from cord blood	blood
19	chr1:222727400-222732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:222727600-222737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
22	chr1:222727800-222732400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:222727800-222733000	Weak transcription	Right Ventricle	heart
24	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
25	chr1:222728000-222732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
28	chr1:222728400-222737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:222728400-222738600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:222728600-222737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:222728600-222744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:222728800-222732600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:222728800-222733200	Weak transcription	HUVEC	blood vessel
34	chr1:222728800-222735200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:222728800-222736200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:222728800-222737000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:222728800-222737200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:222728800-222737200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:222728800-222737400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:222729000-222733400	Strong transcription	A549	lung
42	chr1:222729000-222737400	Strong transcription	Dnd41	blood
43	chr1:222729200-222736000	Strong transcription	Fetal Lung	lung
44	chr1:222729200-222736200	Strong transcription	Ovary	ovary
45	chr1:222729200-222737000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:222729200-222737200	Strong transcription	Placenta	Placenta
47	chr1:222729200-222737400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:222729200-222737400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:222729200-222737400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:222729200-222737600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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