Variant report

Variant	esv3370387
Chromosome Location	chr1:227164229-227168527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:245)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:227164458-227164488	HepG2	liver:	n/a	chr1:227164464-227164475 chr1:227164463-227164476
2	CTCF	chr1:227166306-227166383	GM19239	blood:	n/a	n/a
3	CTCF	chr1:227166252-227166259	GM19239	blood:	n/a	n/a
4	CTCF	chr1:227166260-227166302	GM19239	blood:	n/a	n/a
5	EGR1	chr1:227165660-227165994	K562	blood:	n/a	n/a
6	EGR1	chr1:227165754-227165959	K562	blood:	n/a	n/a
7	HMGN3	chr1:227165166-227165200	K562	blood:	n/a	n/a
8	HMGN3	chr1:227168360-227168557	K562	blood:	n/a	n/a
9	POLR2A	chr1:227168336-227168343	K562	blood:	n/a	n/a
10	POLR2A	chr1:227165510-227165761	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:227167780-227168094	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:227166361-227166682	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:227166678-227167035	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:227165510-227166014	K562	blood:	n/a	n/a
15	POLR2A	chr1:227168373-227168394	K562	blood:	n/a	n/a
16	POLR2A	chr1:227166564-227166681	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:227164510-227164859	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:227167875-227168470	K562	blood:	n/a	n/a
19	POLR2A	chr1:227167143-227167339	K562	blood:	n/a	n/a
20	POLR2A	chr1:227167577-227167803	K562	blood:	n/a	n/a
21	POLR2A	chr1:227168266-227168270	K562	blood:	n/a	n/a
22	POLR2A	chr1:227164382-227167024	HL-60	blood:	n/a	n/a
23	POLR2A	chr1:227165366-227166192	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:227167761-227175221	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:227165575-227165653	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:227166889-227167185	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:227167316-227168488	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:227167716-227167906	A549	lung:	n/a	n/a
29	SPI1	chr1:227164580-227164898	HL-60	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227164459-227164509	T-47D	breast:	n/a
2	chr1:227164459-227164509	T-47D	breast:	n/a
3	chr1:227167020-227167070	HEK293	kidney:	embryo
4	chr1:227164459-227164509	AG10803	skin:	n/a
5	chr1:227165264-227165314	AG04450	lung:	fetal
6	chr1:227164459-227164509	NT2-D1	testis:	n/a
7	chr1:227167020-227167070	Hepatocyte	liver:	n/a
8	chr1:227165264-227165314	HAEpiC	amniotic membrane:	n/a
9	chr1:227168339-227168389	HL-60	blood:	n/a
10	chr1:227165264-227165314	H1-hESC	embryonic stem cell:	embryo
11	chr1:227164459-227164509	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:227164459-227164509	HepG2	liver:	n/a
13	chr1:227165264-227165314	SAEC	small airway:	n/a
14	chr1:227167020-227167070	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:227167020-227167070	HIPEpiC	eye:	n/a
16	chr1:227164459-227164509	GM19239	blood:	n/a
17	chr1:227165264-227165314	U87	brain:	n/a
18	chr1:227164459-227164509	Jurkat	blood:	n/a
19	chr1:227167020-227167070	IMR90	lung:	fetal
20	chr1:227165264-227165314	GM12891	blood:	n/a
21	chr1:227164459-227164509	NH-A	brain:	n/a
22	chr1:227167020-227167070	HRPEpiC	eye:	n/a
23	chr1:227165264-227165314	PrEC	prostate:	n/a
24	chr1:227168339-227168389	GM12878	blood:	n/a
25	chr1:227167020-227167070	NHDF-neo	bronchial:	n/a
26	chr1:227165264-227165314	AG09319	gingival:	n/a
27	chr1:227167020-227167070	HMEC	breast:	n/a
28	chr1:227168339-227168389	SAEC	small airway:	n/a
29	chr1:227168339-227168389	SK-N-MC	brain:	n/a
30	chr1:227168339-227168389	MCF10A-Er-Src	breast:	n/a
31	chr1:227168339-227168389	SK-N-SH	brain:	n/a
32	chr1:227164459-227164509	HRCEpiC	kidney:	n/a
33	chr1:227167020-227167070	NB4	blood:	n/a
34	chr1:227165264-227165314	IMR90	lung:	fetal
35	chr1:227168339-227168389	HCT-116	colon:	n/a
36	chr1:227164459-227164509	K562	blood:	n/a
37	chr1:227164459-227164509	ovcar-3	ovarian:	n/a
38	chr1:227167020-227167070	Jurkat	blood:	n/a
39	chr1:227165264-227165314	K562	blood:	n/a
40	chr1:227167020-227167070	NH-A	brain:	n/a
41	chr1:227168339-227168389	CMK	blood:	n/a
42	chr1:227168339-227168389	ECC-1	luminal epithelium:	n/a
43	chr1:227164459-227164509	SK-N-SH	brain:	n/a
44	chr1:227167020-227167070	AG10803	skin:	n/a
45	chr1:227168339-227168389	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:227167020-227167070	K562	blood:	n/a
47	chr1:227165264-227165314	SK-N-MC	brain:	n/a
48	chr1:227164459-227164509	BJ	skin:	n/a
49	chr1:227168339-227168389	K562	blood:	n/a
50	chr1:227168339-227168389	BE2_C	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227165601..227167978-chr1:227173311..227176266,3	MCF-7	breast:
2	chr1:227166644..227169259-chr1:227201639..227203715,2	K562	blood:
3	chr1:227139663..227142101-chr1:227165412..227167064,2	K562	blood:
4	chr1:227159722..227162799-chr1:227165393..227168885,3	K562	blood:
5	chr1:227167759..227170320-chr1:227201779..227203715,2	K562	blood:
6	chr1:227163749..227166477-chr1:227166697..227169013,2	K562	blood:
7	chr1:227167168..227168996-chr1:227169215..227170935,2	K562	blood:
8	chr1:227152242..227154390-chr1:227167200..227168802,2	MCF-7	breast:
9	chr1:227163376..227165158-chr1:227165776..227167614,2	K562	blood:
10	chr1:227166708..227168288-chr1:227175078..227176909,2	MCF-7	breast:
11	chr1:227158478..227161173-chr1:227162691..227164672,2	K562	blood:
12	chr1:227129763..227131276-chr1:227162634..227164932,2	K562	blood:
13	chr1:227127948..227129868-chr1:227162930..227165927,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSEN2-2	chr1:227165150-227165188	NONHSAT009911

No data

Variant related genes	Relation type
ADCK3	TF binding region
ADCK3	CpG island
ENSG00000163050	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs537861206	chr1:227164235-227164236	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556474267	chr1:227164249-227164250	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578159496	chr1:227164300-227164301	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186357151	chr1:227164340-227164341	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74346270	chr1:227164394-227164395	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535726888	chr1:227164400-227164401	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572299106	chr1:227164429-227164430	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147911520	chr1:227164466-227164467	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191313518	chr1:227164480-227164481	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561070718	chr1:227164502-227164503	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531596728	chr1:227164552-227164553	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549516642	chr1:227164585-227164586	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115849451	chr1:227164592-227164593	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114345124	chr1:227164595-227164596	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547116453	chr1:227164613-227164614	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565432142	chr1:227164625-227164626	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182731537	chr1:227164710-227164711	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3806262	chr1:227164716-227164717	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1133215	chr1:227164728-227164729	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111435588	chr1:227164765-227164766	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567866788	chr1:227164868-227164869	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186809034	chr1:227164873-227164874	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556613733	chr1:227164881-227164882	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs578095655	chr1:227164886-227164887	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539014771	chr1:227164904-227164905	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554356651	chr1:227164955-227164956	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190852220	chr1:227165008-227165009	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183093922	chr1:227165042-227165043	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561093310	chr1:227165053-227165054	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576271138	chr1:227165077-227165078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527463390	chr1:227165092-227165093	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3806263	chr1:227165097-227165098	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs76592783	chr1:227165114-227165115	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559439483	chr1:227165122-227165123	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369465514	chr1:227165132-227165133	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546978574	chr1:227165135-227165136	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377393690	chr1:227165147-227165148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372435075	chr1:227165158-227165159	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs529746753	chr1:227165172-227165173	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs199694417	chr1:227165173-227165174	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs567813987	chr1:227165187-227165188	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs376462712	chr1:227165191-227165192	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369786684	chr1:227165207-227165208	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373518781	chr1:227165211-227165212	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550525094	chr1:227165212-227165213	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571967614	chr1:227165218-227165219	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35757883	chr1:227165220-227165221	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199619932	chr1:227165224-227165225	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370924314	chr1:227165231-227165232	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533407862	chr1:227165232-227165233	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227154400-227165800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
6	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:227158400-227164600	Weak transcription	Dnd41	blood
8	chr1:227158400-227173200	Weak transcription	K562	blood
9	chr1:227158400-227174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:227159800-227165800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:227159800-227174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:227160000-227173600	Weak transcription	A549	lung
15	chr1:227160000-227174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:227160000-227174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:227160000-227174800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
19	chr1:227160200-227165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:227160200-227165200	Enhancers	Liver	Liver
21	chr1:227160400-227164600	Enhancers	Right Atrium	heart
22	chr1:227160400-227164800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:227160400-227165200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:227160600-227165000	Enhancers	Right Ventricle	heart
25	chr1:227160600-227165400	Enhancers	Left Ventricle	heart
26	chr1:227160600-227165800	Enhancers	Psoas Muscle	Psoas
27	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:227160800-227164800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:227160800-227164800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:227161000-227165000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:227161200-227164400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:227161200-227165400	Weak transcription	Primary B cells from cord blood	blood
34	chr1:227161600-227165400	Weak transcription	Fetal Brain Female	brain
35	chr1:227162200-227164400	Genic enhancers	Fetal Stomach	stomach
36	chr1:227162200-227164600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:227162200-227166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:227162200-227169400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
40	chr1:227162400-227173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:227162400-227174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:227162400-227174200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:227162400-227181600	Weak transcription	NHEK	skin
45	chr1:227162600-227174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:227162600-227174200	Weak transcription	Aorta	Aorta
47	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
49	chr1:227162800-227164400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:227162800-227165000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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