Variant report

Variant	esv3406151
Chromosome Location	chr17:19626085-19628158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr17:19627329-19627538	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr17:19626445-19626778	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr17:19627337-19627567	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr17:19627365-19627644	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr17:19627940-19628090	HUVEC	blood vessel:	n/a	chr17:19627951-19627964
6	E2F4	chr17:19627801-19628331	MCF10A-Er-Src	breast:	n/a	chr17:19627953-19627967
7	EBF1	chr17:19627759-19628131	GM12878	blood:	n/a	n/a
8	EGR1	chr17:19627654-19628220	MCF-7	breast:	n/a	chr17:19627931-19627945 chr17:19627932-19627945 chr17:19627934-19627943 chr17:19627927-19627949 chr17:19627933-19627944 chr17:19627932-19627945 chr17:19627933-19627942 chr17:19627933-19627943 chr17:19627931-19627946 chr17:19627933-19627943 chr17:19627932-19627945
9	ELF1	chr17:19627633-19628133	GM12878	blood:	n/a	n/a
10	ELF1	chr17:19627655-19628256	MCF-7	breast:	n/a	n/a
11	EP300	chr17:19627376-19627616	Hela-S3	cervix:	n/a	n/a
12	FOS	chr17:19626504-19626741	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr17:19627349-19627583	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr17:19627209-19627615	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr17:19627214-19627602	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr17:19627332-19627606	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr17:19627841-19628041	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr17:19627840-19628059	MCF10A-Er-Src	breast:	n/a	n/a
19	GTF2F1	chr17:19627326-19627579	Hela-S3	cervix:	n/a	n/a
20	HA-E2F1	chr17:19627259-19628153	MCF-7	breast:	n/a	chr17:19627953-19627967
21	HDAC2	chr17:19627230-19628263	MCF-7	breast:	n/a	chr17:19627802-19627821
22	MAX	chr17:19627261-19628468	MCF-7	breast:	n/a	chr17:19628272-19628281 chr17:19627939-19627950 chr17:19628267-19628286 chr17:19628272-19628281 chr17:19628270-19628283
23	MAX	chr17:19627685-19628308	MCF-7	breast:	n/a	chr17:19628272-19628281 chr17:19627939-19627950 chr17:19628267-19628286 chr17:19628272-19628281 chr17:19628270-19628283
24	MAX	chr17:19627358-19627680	Hela-S3	cervix:	n/a	n/a
25	MAX	chr17:19627255-19627777	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr17:19627351-19627709	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr17:19627374-19627574	Hela-S3	cervix:	n/a	n/a
28	MYC	chr17:19627203-19628309	MCF10A-Er-Src	breast:	n/a	chr17:19628272-19628281 chr17:19627939-19627950 chr17:19628267-19628286 chr17:19628272-19628281 chr17:19628270-19628283
29	MYC	chr17:19627197-19628063	MCF10A-Er-Src	breast:	n/a	chr17:19627939-19627950
30	MYC	chr17:19626407-19626607	MCF10A-Er-Src	breast:	n/a	n/a
31	NFIC	chr17:19626301-19626868	ECC-1	luminal epithelium:	n/a	n/a
32	NR2F2	chr17:19627255-19628202	MCF-7	breast:	n/a	n/a
33	NR2F2	chr17:19627246-19628294	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:19627744-19628258	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr17:19627690-19628254	HL-60	blood:	n/a	n/a
36	POLR2A	chr17:19627851-19628049	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr17:19628097-19628105	MCF-7	breast:	n/a	n/a
38	POLR2A	chr17:19627851-19628220	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr17:19627710-19628238	MCF-7	breast:	n/a	n/a
40	POLR2A	chr17:19627658-19628596	HL-60	blood:	n/a	n/a
41	POLR2A	chr17:19627966-19627969	MCF-7	breast:	n/a	n/a
42	POLR2A	chr17:19627903-19628092	MCF-7	breast:	n/a	n/a
43	RAD21	chr17:19627323-19627484	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr17:19627319-19627627	Hela-S3	cervix:	n/a	n/a
45	REST	chr17:19627160-19627701	MCF-7	breast:	n/a	n/a
46	RFX5	chr17:19627355-19627555	Hela-S3	cervix:	n/a	n/a
47	RUNX3	chr17:19627829-19628144	GM12878	blood:	n/a	n/a
48	SMC3	chr17:19627334-19627626	Hela-S3	cervix:	n/a	n/a
49	SPI1	chr17:19627792-19628165	HL-60	blood:	n/a	n/a
50	STAT3	chr17:19627261-19627618	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19628087-19628137	NH-A	brain:	n/a
2	chr17:19627822-19627872	HCPEpiC	choroid plexus:	n/a
3	chr17:19628012-19628062	Hepatocyte	liver:	n/a
4	chr17:19628087-19628137	ovcar-3	ovarian:	n/a
5	chr17:19627822-19627872	HRE	kidney:	n/a
6	chr17:19627822-19627872	LNCaP	prostate:	n/a
7	chr17:19628012-19628062	GM12891	blood:	n/a
8	chr17:19628087-19628137	ProgFib	skin:	n/a
9	chr17:19627822-19627872	PFSK-1	brain:	n/a
10	chr17:19628012-19628062	HNPCEpiC	eye:	n/a
11	chr17:19628087-19628137	SK-N-SH_RA	brain:	n/a
12	chr17:19627822-19627872	U87	brain:	n/a
13	chr17:19627822-19627872	SK-N-SH	brain:	n/a
14	chr17:19628087-19628137	BJ	skin:	n/a
15	chr17:19628012-19628062	GM12878	blood:	n/a
16	chr17:19627822-19627872	HCT-116	colon:	n/a
17	chr17:19628012-19628062	HRCEpiC	kidney:	n/a
18	chr17:19628087-19628137	SK-N-MC	brain:	n/a
19	chr17:19627822-19627872	BE2_C	brain:	n/a
20	chr17:19628012-19628062	A549	lung:	n/a
21	chr17:19628012-19628062	NH-A	brain:	n/a
22	chr17:19628012-19628062	K562	blood:	n/a
23	chr17:19627822-19627872	H1-hESC	embryonic stem cell:	embryo
24	chr17:19628087-19628137	NHDF-neo	bronchial:	n/a
25	chr17:19628012-19628062	ovcar-3	ovarian:	n/a
26	chr17:19627822-19627872	T-47D	breast:	n/a
27	chr17:19628087-19628137	HepG2	liver:	n/a
28	chr17:19628012-19628062	HMEC	breast:	n/a
29	chr17:19627822-19627872	AG09319	gingival:	n/a
30	chr17:19628012-19628062	HAEpiC	amniotic membrane:	n/a
31	chr17:19628012-19628062	HEEpiC	esophagus:	n/a
32	chr17:19627822-19627872	NHDF-neo	bronchial:	n/a
33	chr17:19628087-19628137	HL-60	blood:	n/a
34	chr17:19628012-19628062	SAEC	small airway:	n/a
35	chr17:19627822-19627872	HepG2	liver:	n/a
36	chr17:19628012-19628062	H1-hESC	embryonic stem cell:	embryo
37	chr17:19628087-19628137	HCM	heart:	n/a
38	chr17:19628012-19628062	ECC-1	luminal epithelium:	n/a
39	chr17:19627822-19627872	NT2-D1	testis:	n/a
40	chr17:19628012-19628062	HEK293	kidney:	embryo
41	chr17:19628012-19628062	NT2-D1	testis:	n/a
42	chr17:19628012-19628062	NHBE	bronchial:	n/a
43	chr17:19628012-19628062	SK-N-SH	brain:	n/a
44	chr17:19628012-19628062	HCPEpiC	choroid plexus:	n/a
45	chr17:19627822-19627872	MCF-7	breast:	n/a
46	chr17:19627822-19627872	ProgFib	skin:	n/a
47	chr17:19628087-19628137	NHBE	bronchial:	n/a
48	chr17:19628087-19628137	HCT-116	colon:	n/a
49	chr17:19628012-19628062	PANC-1	pancreas:	n/a
50	chr17:19628087-19628137	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19627605..19629507-chr17:19658894..19661026,2	MCF-7	breast:
2	chr17:19627403..19631543-chr17:19639531..19642900,3	MCF-7	breast:
3	chr17:19617480..19620219-chr17:19627311..19629602,2	MCF-7	breast:
4	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
5	chr11:67379967..67381601-chr17:19627957..19630440,2	MCF-7	breast:
6	chr17:19626221..19628262-chr17:19634519..19636560,2	MCF-7	breast:
7	chr11:67380566..67382466-chr17:19627123..19628760,2	MCF-7	breast:
8	chr17:19551299..19553745-chr17:19626814..19628923,2	MCF-7	breast:
9	chr17:19624830..19631833-chr17:19654160..19660410,12	MCF-7	breast:
10	chr17:19627784..19630174-chr17:19639467..19641873,3	MCF-7	breast:
11	chr17:19626307..19628911-chr8:125486241..125488488,2	MCF-7	breast:
12	chr17:19551445..19552984-chr17:19627391..19629218,2	MCF-7	breast:

Variant related genes	Relation type
SLC47A2	TF binding region
SLC47A2	CpG island
ENSG00000264932	chromatin interactions
ENSG00000230607	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000108602	chromatin interactions
ENSG00000264785	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000180638	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571536509	chr17:19626086-19626087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368466482	chr17:19626126-19626127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183602660	chr17:19626154-19626155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188094544	chr17:19626200-19626201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528943015	chr17:19626238-19626239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377456138	chr17:19626239-19626240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77442481	chr17:19626294-19626295	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549089038	chr17:19626295-19626296	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372448222	chr17:19626308-19626309	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs192906922	chr17:19626325-19626326	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs567388937	chr17:19626393-19626394	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs367568546	chr17:19626425-19626426	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556012818	chr17:19626498-19626499	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs183772501	chr17:19626546-19626547	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs142473255	chr17:19626553-19626554	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs558134104	chr17:19626590-19626591	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs577875280	chr17:19626597-19626598	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs540568735	chr17:19626598-19626599	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs554343979	chr17:19626599-19626600	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs12945122	chr17:19626625-19626626	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs543093980	chr17:19626718-19626719	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs78322544	chr17:19626723-19626724	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs562805935	chr17:19626727-19626728	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs114742533	chr17:19626732-19626733	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs58431523	chr17:19626738-19626739	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs147264290	chr17:19626761-19626762	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs545372303	chr17:19626766-19626767	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs565287387	chr17:19626839-19626840	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs368464733	chr17:19626851-19626852	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs199503104	chr17:19626855-19626856	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs67091642	chr17:19626856-19626857	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs527573412	chr17:19626859-19626860	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs376529828	chr17:19626878-19626879	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs12952738	chr17:19626894-19626895	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs554877647	chr17:19626911-19626912	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs368004251	chr17:19626912-19626913	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs571823994	chr17:19626952-19626953	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs62068087	chr17:19626955-19626956	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs373052845	chr17:19626994-19626995	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs529880580	chr17:19627015-19627016	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs377387807	chr17:19627022-19627023	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs8077368	chr17:19627028-19627029	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs569366018	chr17:19627066-19627067	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs9903018	chr17:19627087-19627088	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs538357144	chr17:19627108-19627109	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs551747464	chr17:19627112-19627113	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs565386627	chr17:19627154-19627155	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs140455553	chr17:19627156-19627157	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs554204081	chr17:19627157-19627158	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs187998794	chr17:19627196-19627197	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
4	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
5	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain
6	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:19623400-19628000	Enhancers	Fetal Heart	heart
8	chr17:19624000-19627600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:19624000-19630600	Weak transcription	Small Intestine	intestine
10	chr17:19624200-19627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:19624200-19627800	Weak transcription	Fetal Lung	lung
12	chr17:19624400-19626400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:19624400-19626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:19624400-19627200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:19624400-19627200	Weak transcription	Placenta	Placenta
16	chr17:19624400-19627200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:19624400-19627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:19624400-19627200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:19624400-19627400	Weak transcription	Left Ventricle	heart
20	chr17:19624600-19626200	Weak transcription	Right Ventricle	heart
21	chr17:19624600-19626400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:19624600-19626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:19624600-19627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:19624600-19627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr17:19624600-19627400	Weak transcription	Adipose Nuclei	Adipose
26	chr17:19624600-19627400	Weak transcription	Liver	Liver
27	chr17:19624600-19627400	Weak transcription	Ovary	ovary
28	chr17:19624600-19627600	Weak transcription	Pancreas	Pancrea
29	chr17:19624800-19626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:19624800-19626400	Weak transcription	NHEK	skin
31	chr17:19624800-19627400	Weak transcription	Esophagus	oesophagus
32	chr17:19624800-19627400	Weak transcription	Gastric	stomach
33	chr17:19624800-19627400	Weak transcription	Lung	lung
34	chr17:19624800-19627400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:19624800-19627400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:19624800-19627400	Weak transcription	Stomach Mucosa	stomach
37	chr17:19624800-19627400	Weak transcription	Spleen	Spleen
38	chr17:19624800-19627400	Weak transcription	HSMMtube	muscle
39	chr17:19624800-19627600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:19624800-19627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:19624800-19631400	Weak transcription	Brain Germinal Matrix	brain
42	chr17:19625000-19626400	Weak transcription	Fetal Muscle Leg	muscle
43	chr17:19625000-19626600	Weak transcription	HMEC	breast
44	chr17:19625000-19627400	Weak transcription	Colonic Mucosa	Colon
45	chr17:19625000-19630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:19625200-19626400	Weak transcription	A549	lung
47	chr17:19625200-19626400	Weak transcription	Hela-S3	cervix
48	chr17:19625200-19631000	Weak transcription	Fetal Kidney	kidney
49	chr17:19625600-19626400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr17:19625800-19630400	Weak transcription	HepG2	liver

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