Variant report

Variant	esv19055
Chromosome Location	chr17:18128439-18129535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:428)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:18128364-18129077	K562	blood:	n/a	n/a
2	ATF2	chr17:18127659-18128609	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr17:18128570-18128864	K562	blood:	n/a	chr17:18128797-18128806 chr17:18128707-18128716
4	ATF3	chr17:18128866-18129108	K562	blood:	n/a	n/a
5	BACH1	chr17:18129337-18129543	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:18127800-18129072	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr17:18128522-18128812	GM12878	blood:	n/a	chr17:18128709-18128722 chr17:18128707-18128720
8	BHLHE40	chr17:18128456-18129081	GM12878	blood:	n/a	n/a
9	BHLHE40	chr17:18128203-18128848	K562	blood:	n/a	n/a
10	BRCA1	chr17:18127940-18128566	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr17:18128578-18129357	K562	blood:	n/a	chr17:18128792-18128801
12	CEBPB	chr17:18127531-18128523	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr17:18128788-18129094	HepG2	liver:	n/a	n/a
14	CHD1	chr17:18128198-18128639	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr17:18128510-18129025	Hela-S3	cervix:	n/a	chr17:18128793-18128803
16	CHD2	chr17:18128356-18128887	K562	blood:	n/a	chr17:18128793-18128803
17	CHD2	chr17:18128502-18128960	GM12878	blood:	n/a	chr17:18128793-18128803
18	CHD2	chr17:18127654-18128898	H1-hESC	embryonic stem cell:	n/a	chr17:18128793-18128803
19	CHD2	chr17:18128468-18128849	HepG2	liver:	n/a	chr17:18128793-18128803
20	CREB1	chr17:18127418-18129485	HepG2	liver:	n/a	n/a
21	CREB1	chr17:18128506-18128885	ECC-1	luminal epithelium:	n/a	n/a
22	CREB1	chr17:18128499-18129113	HepG2	liver:	n/a	n/a
23	CREB1	chr17:18128542-18129088	A549	lung:	n/a	n/a
24	CREB1	chr17:18128502-18129093	GM12878	blood:	n/a	n/a
25	CREB1	chr17:18128472-18129261	K562	blood:	n/a	n/a
26	CREB1	chr17:18128625-18128852	A549	lung:	n/a	n/a
27	CREB1	chr17:18127504-18129217	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr17:18127687-18129222	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr17:18127453-18128791	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr17:18128737-18128831	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr17:18128732-18128803	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr17:18128414-18128717	K562	blood:	n/a	n/a
33	CTCF	chr17:18128713-18128807	Lung_OC	lung:	n/a	n/a
34	CUX1	chr17:18128255-18128744	K562	blood:	n/a	n/a
35	E2F1	chr17:18128509-18129167	Hela-S3	cervix:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
36	E2F4	chr17:18128554-18128861	GM12878	blood:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
37	E2F4	chr17:18128486-18128969	MCF10A-Er-Src	breast:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
38	E2F6	chr17:18128498-18128788	K562	blood:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
39	E2F6	chr17:18128585-18128772	K562	blood:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
40	EBF1	chr17:18128836-18129054	GM12878	blood:	n/a	n/a
41	EBF1	chr17:18128654-18128754	GM12878	blood:	n/a	n/a
42	EGR1	chr17:18128766-18128916	K562	blood:	n/a	n/a
43	EGR1	chr17:18128525-18128940	K562	blood:	n/a	chr17:18128688-18128712
44	ELF1	chr17:18128456-18129099	GM12878	blood:	n/a	chr17:18128753-18128765
45	ELF1	chr17:18128854-18129086	K562	blood:	n/a	n/a
46	ELF1	chr17:18128317-18128641	A549	lung:	n/a	n/a
47	ELF1	chr17:18128585-18128821	K562	blood:	n/a	chr17:18128753-18128765
48	ELF1	chr17:18128600-18129132	K562	blood:	n/a	chr17:18128753-18128765
49	ELF1	chr17:18128462-18128991	GM12878	blood:	n/a	chr17:18128753-18128765
50	ELK1	chr17:18128582-18129040	GM12878	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18128581-18128631	ECC-1	luminal epithelium:	n/a
2	chr17:18128581-18128631	ECC-1	luminal epithelium:	n/a
3	chr17:18128745-18128795	HL-60	blood:	n/a
4	chr17:18129087-18129137	HAEpiC	amniotic membrane:	n/a
5	chr17:18128581-18128631	PrEC	prostate:	n/a
6	chr17:18128735-18128785	GM12892	blood:	n/a
7	chr17:18128806-18128856	PANC-1	pancreas:	n/a
8	chr17:18128806-18128856	U87	brain:	n/a
9	chr17:18128745-18128795	PrEC	prostate:	n/a
10	chr17:18128745-18128795	AG10803	skin:	n/a
11	chr17:18128581-18128631	HAEpiC	amniotic membrane:	n/a
12	chr17:18128581-18128631	SK-N-MC	brain:	n/a
13	chr17:18128735-18128785	BJ	skin:	n/a
14	chr17:18129026-18129076	HCT-116	colon:	n/a
15	chr17:18129026-18129076	NHBE	bronchial:	n/a
16	chr17:18129026-18129076	K562	blood:	n/a
17	chr17:18128581-18128631	PFSK-1	brain:	n/a
18	chr17:18128581-18128631	U87	brain:	n/a
19	chr17:18128745-18128795	PFSK-1	brain:	n/a
20	chr17:18128745-18128795	LNCaP	prostate:	n/a
21	chr17:18129026-18129076	AoSMC	blood vessel:	n/a
22	chr17:18129087-18129137	Caco-2	colon:	n/a
23	chr17:18128745-18128795	RPTEC	kidney:	n/a
24	chr17:18128735-18128785	NHBE	bronchial:	n/a
25	chr17:18128578-18128628	GM19239	blood:	n/a
26	chr17:18129087-18129137	HCT-116	colon:	n/a
27	chr17:18128745-18128795	CMK	blood:	n/a
28	chr17:18128806-18128856	CMK	blood:	n/a
29	chr17:18128806-18128856	AG10803	skin:	n/a
30	chr17:18129026-18129076	HMEC	breast:	n/a
31	chr17:18129026-18129076	T-47D	breast:	n/a
32	chr17:18128745-18128795	GM19239	blood:	n/a
33	chr17:18128581-18128631	AG04450	lung:	fetal
34	chr17:18128745-18128795	SKMC	muscle:	n/a
35	chr17:18129087-18129137	NHDF-neo	bronchial:	n/a
36	chr17:18129026-18129076	HCPEpiC	choroid plexus:	n/a
37	chr17:18129026-18129076	GM06990	blood:	n/a
38	chr17:18128806-18128856	GM12878	blood:	n/a
39	chr17:18128806-18128856	HRPEpiC	eye:	n/a
40	chr17:18129087-18129137	RPTEC	kidney:	n/a
41	chr17:18129087-18129137	AG09309	skin:	n/a
42	chr17:18128581-18128631	HNPCEpiC	eye:	n/a
43	chr17:18128578-18128628	Caco-2	colon:	n/a
44	chr17:18129087-18129137	GM19239	blood:	n/a
45	chr17:18129087-18129137	SAEC	small airway:	n/a
46	chr17:18129087-18129137	NHBE	bronchial:	n/a
47	chr17:18129026-18129076	NT2-D1	testis:	n/a
48	chr17:18128735-18128785	HCT-116	colon:	n/a
49	chr17:18129026-18129076	A549	lung:	n/a
50	chr17:18129026-18129076	AG09309	skin:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18128609..18130304-chr17:18157638..18159883,2	K562	blood:
2	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
3	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
4	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
5	chr17:18127210..18129786-chr17:18153749..18156676,2	MCF-7	breast:
6	chr17:18127264..18129965-chr17:18170745..18172525,2	K562	blood:
7	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
8	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
9	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
10	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
11	chr17:18128940..18129457-chr19:55896848..55897657,2	Hela-S3	cervix:
12	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
13	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
14	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:

No data

Variant related genes	Relation type
LLGL1	TF binding region
LLGL1	CpG island
ENSG00000177731	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000266677	chromatin interactions
ENSG00000260647	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000177427	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000091542	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2605131	chr17:18128441-18128442	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2605132	chr17:18128474-18128475	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs527437121	chr17:18128542-18128543	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs73980856	chr17:18128632-18128633	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146889181	chr17:18128648-18128649	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs529342487	chr17:18128685-18128686	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs112196869	chr17:18128721-18128722	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs569572126	chr17:18128737-18128738	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs554671511	chr17:18128766-18128767	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs574553937	chr17:18128783-18128784	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs538163338	chr17:18128810-18128811	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs552002033	chr17:18128817-18128818	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs117782228	chr17:18128822-18128823	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
14	rs112705584	chr17:18128854-18128855	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
15	rs182226671	chr17:18128865-18128866	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
16	rs566999896	chr17:18128956-18128957	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs535891405	chr17:18128990-18128991	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs555731675	chr17:18128991-18128992	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs200829360	chr17:18129027-18129028	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs544978987	chr17:18129087-18129088	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs368191572	chr17:18129216-18129217	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs34513508	chr17:18129238-18129239	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs186900966	chr17:18129241-18129242	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs112521610	chr17:18129264-18129265	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs12952091	chr17:18129267-18129268	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs565150318	chr17:18129336-18129337	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs372058718	chr17:18129349-18129350	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs529395202	chr17:18129360-18129361	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs181317415	chr17:18129380-18129381	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs562740384	chr17:18129386-18129387	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs531701689	chr17:18129424-18129425	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs368539016	chr17:18129453-18129454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs551801746	chr17:18129466-18129467	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs186158519	chr17:18129513-18129514	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18127400-18128600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:18127400-18128600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr17:18127400-18128800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:18127400-18129200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:18127400-18130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr17:18127600-18128600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:18127600-18129800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr17:18127800-18128600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr17:18127800-18128600	Flanking Active TSS	Right Ventricle	heart
12	chr17:18127800-18128600	Enhancers	Spleen	Spleen
13	chr17:18127800-18128600	Flanking Active TSS	Osteobl	bone
14	chr17:18127800-18129200	Enhancers	Fetal Brain Male	brain
15	chr17:18127800-18129400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:18127800-18129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:18127800-18129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:18127800-18129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:18127800-18129800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:18128000-18128600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:18128000-18128600	Flanking Active TSS	Fetal Lung	lung
23	chr17:18128000-18128600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr17:18128000-18128600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr17:18128000-18128600	Flanking Active TSS	Hela-S3	cervix
26	chr17:18128000-18128800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr17:18128000-18128800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr17:18128000-18129200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr17:18128000-18129600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:18128000-18129600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:18128000-18129600	Bivalent/Poised TSS	HepG2	liver
32	chr17:18128000-18129800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr17:18128200-18128600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:18128200-18128600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:18128200-18128600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr17:18128200-18128600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:18128200-18128600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:18128200-18128600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:18128200-18128600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:18128200-18128600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr17:18128200-18128600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr17:18128200-18128600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr17:18128200-18128600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr17:18128200-18128600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr17:18128200-18128600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr17:18128200-18128600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr17:18128200-18128600	Flanking Active TSS	Colonic Mucosa	Colon
49	chr17:18128200-18128600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr17:18128200-18128600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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