Variant report

Variant	nsv883296
Chromosome Location	chr5:180033292-180069852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:487)
CpG islands
(count:2322)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:180038092-180038427	K562	blood:	n/a	n/a
2	ATF3	chr5:180038227-180038391	K562	blood:	n/a	n/a
3	CBX3	chr5:180038124-180038384	K562	blood:	n/a	n/a
4	CREB1	chr5:180038106-180038434	A549	lung:	n/a	n/a
5	CREB1	chr5:180038094-180038561	K562	blood:	n/a	n/a
6	CREB1	chr5:180058933-180059230	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr5:180045842-180046437	A549	lung:	n/a	n/a
8	CTCF	chr5:180046000-180046150	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr5:180045981-180046444	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr5:180046300-180046418	Gliobla	brain:	n/a	n/a
11	CTCF	chr5:180045813-180046497	A549	lung:	n/a	n/a
12	CTCF	chr5:180042476-180042510	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr5:180046260-180046410	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr5:180045970-180046498	Fibrobl	skin:	n/a	n/a
15	CTCF	chr5:180046240-180046390	GM12871	blood:	n/a	n/a
16	CTCF	chr5:180032532-180033303	H1-hESC	embryonic stem cell:	n/a	chr5:180032713-180032731 chr5:180033127-180033145 chr5:180032716-180032725 chr5:180033129-180033142 chr5:180032716-180032729 chr5:180033122-180033143
17	CTCF	chr5:180046020-180046170	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr5:180046253-180046430	K562	blood:	n/a	n/a
19	CTCF	chr5:180057580-180057730	GM12865	blood:	n/a	n/a
20	CTCF	chr5:180033399-180033486	Gliobla	brain:	n/a	n/a
21	CTCF	chr5:180038245-180038449	A549	lung:	n/a	chr5:180038313-180038321
22	CTCF	chr5:180045788-180046715	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr5:180046000-180046150	SAEC	small airway:	n/a	n/a
24	CTCF	chr5:180032600-180033349	K562	blood:	n/a	chr5:180032713-180032731 chr5:180033127-180033145 chr5:180032716-180032725 chr5:180033129-180033142 chr5:180032716-180032729 chr5:180033122-180033143
25	CTCF	chr5:180051580-180051730	MCF-7	breast:	n/a	chr5:180051657-180051670 chr5:180051664-180051677
26	CTCF	chr5:180033480-180033630	NHLF	lung:	n/a	n/a
27	CTCF	chr5:180038260-180038410	HepG2	liver:	n/a	chr5:180038313-180038321
28	CTCF	chr5:180045919-180046443	A549	lung:	n/a	n/a
29	CTCF	chr5:180046294-180046435	GM10266	blood:	n/a	n/a
30	CTCF	chr5:180046218-180046490	LNCaP	prostate:	n/a	n/a
31	CTCF	chr5:180038284-180038389	GM12892	blood:	n/a	chr5:180038313-180038321
32	CTCF	chr5:180039680-180039830	K562	blood:	n/a	chr5:180039771-180039789
33	CTCF	chr5:180033240-180033390	HAc	cerebellar:	n/a	n/a
34	CTCF	chr5:180039746-180039776	GM12892	blood:	n/a	n/a
35	CTCF	chr5:180033380-180033530	HRE	kidney:	n/a	n/a
36	CTCF	chr5:180046029-180046169	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr5:180032887-180033344	HepG2	liver:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
38	CTCF	chr5:180046320-180046470	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:180046240-180046390	HFF	foreskin:	n/a	n/a
40	CTCF	chr5:180045977-180046143	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr5:180046024-180046137	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:180046240-180046390	SAEC	small airway:	n/a	n/a
43	CTCF	chr5:180033005-180033297	LNCaP	prostate:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
44	CTCF	chr5:180046260-180046410	NHEK	skin:	n/a	n/a
45	CTCF	chr5:180046280-180046430	HVMF	connective:	n/a	n/a
46	CTCF	chr5:180046000-180046150	HEK293	kidney:	n/a	n/a
47	CTCF	chr5:180033395-180033499	GM10266	blood:	n/a	n/a
48	CTCF	chr5:180038244-180038428	MCF-7	breast:	n/a	chr5:180038313-180038321
49	CTCF	chr5:180045964-180046152	A549	lung:	n/a	n/a
50	CTCF	chr5:180045980-180046130	HMF	breast:	n/a	n/a

(count:2322 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180056580-180056630	SK-N-MC	brain:	n/a
2	chr5:180046052-180046102	AG04449	skin:	fetal
3	chr5:180048155-180048205	AG10803	skin:	n/a
4	chr5:180041908-180041958	SKMC	muscle:	n/a
5	chr5:180056580-180056630	SK-N-MC	brain:	n/a
6	chr5:180046052-180046102	AG04449	skin:	fetal
7	chr5:180048155-180048205	AG10803	skin:	n/a
8	chr5:180041908-180041958	SKMC	muscle:	n/a
9	chr5:180047798-180047848	CMK	blood:	n/a
10	chr5:180047184-180047234	HCF	heart:	n/a
11	chr5:180056522-180056572	ProgFib	skin:	n/a
12	chr5:180042471-180042521	GM19239	blood:	n/a
13	chr5:180042144-180042194	Hepatocyte	liver:	n/a
14	chr5:180036277-180036327	HEK293	kidney:	embryo
15	chr5:180057303-180057353	HEK293	kidney:	embryo
16	chr5:180052364-180052414	HEK293	kidney:	embryo
17	chr5:180047299-180047349	GM12892	blood:	n/a
18	chr5:180047686-180047736	PrEC	prostate:	n/a
19	chr5:180056522-180056572	MCF10A-Er-Src	breast:	n/a
20	chr5:180036446-180036496	MCF10A-Er-Src	breast:	n/a
21	chr5:180047686-180047736	HUVEC	blood vessel:	n/a
22	chr5:180046901-180046951	Caco-2	colon:	n/a
23	chr5:180056522-180056572	GM06990	blood:	n/a
24	chr5:180053982-180054032	HNPCEpiC	eye:	n/a
25	chr5:180042144-180042194	HIPEpiC	eye:	n/a
26	chr5:180033511-180033561	CMK	blood:	n/a
27	chr5:180041908-180041958	HRE	kidney:	n/a
28	chr5:180048893-180048943	HNPCEpiC	eye:	n/a
29	chr5:180056301-180056351	CMK	blood:	n/a
30	chr5:180033511-180033561	HIPEpiC	eye:	n/a
31	chr5:180056580-180056630	RPTEC	kidney:	n/a
32	chr5:180036277-180036327	Hela-S3	cervix:	n/a
33	chr5:180046052-180046102	H1-hESC	embryonic stem cell:	embryo
34	chr5:180056580-180056630	HCF	heart:	n/a
35	chr5:180042144-180042194	H1-hESC	embryonic stem cell:	embryo
36	chr5:180045822-180045872	HRE	kidney:	n/a
37	chr5:180034939-180034989	GM06990	blood:	n/a
38	chr5:180033559-180033609	BE2_C	brain:	n/a
39	chr5:180036446-180036496	BE2_C	brain:	n/a
40	chr5:180036277-180036327	HCM	heart:	n/a
41	chr5:180047299-180047349	HMEC	breast:	n/a
42	chr5:180044026-180044076	NHBE	bronchial:	n/a
43	chr5:180057594-180057644	HepG2	liver:	n/a
44	chr5:180056040-180056090	SK-N-SH_RA	brain:	n/a
45	chr5:180047686-180047736	HL-60	blood:	n/a
46	chr5:180033559-180033609	PrEC	prostate:	n/a
47	chr5:180036446-180036496	SAEC	small airway:	n/a
48	chr5:180047798-180047848	NT2-D1	testis:	n/a
49	chr5:180052364-180052414	GM12891	blood:	n/a
50	chr5:180057034-180057084	MCF-7	breast:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179918146..179918859-chr5:180033017..180033559,2	MCF-7	breast:
2	chr5:180032730..180033573-chr5:180097208..180098138,2	MCF-7	breast:
3	chr5:180033053..180035793-chr5:180035814..180039937,3	K562	blood:
4	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
5	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
6	chr5:180044847..180047372-chr5:180048996..180050512,2	K562	blood:
7	chr5:180051235..180053741-chr5:180054610..180058069,3	K562	blood:
8	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
9	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
10	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
11	chr5:180029601..180031861-chr5:180034178..180035755,2	K562	blood:
12	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
13	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
14	chr5:179758608..179760983-chr5:180044449..180046070,2	MCF-7	breast:
15	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
16	chr5:180046012..180054191-chr5:180056996..180060440,8	K562	blood:
17	chr5:179926447..179929444-chr5:180030197..180034087,3	MCF-7	breast:
18	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
19	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
20	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
21	chr5:180017444..180018982-chr5:180034267..180036665,2	MCF-7	breast:
22	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
23	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
24	chr5:180033145..180034677-chr5:180036724..180038959,2	MCF-7	breast:
25	chr5:180034337..180037411-chr5:180040154..180043371,4	MCF-7	breast:
26	chr5:180052176..180054289-chr5:180056133..180059074,3	MCF-7	breast:
27	chr5:179918331..179919238-chr5:180032789..180033687,2	MCF-7	breast:
28	chr5:179921107..179922607-chr5:180049466..180050983,2	MCF-7	breast:
29	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
30	chr5:180035679..180038320-chr5:180045902..180049643,3	MCF-7	breast:
31	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:

No data

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island
ENSG00000161055	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000037280	chromatin interactions

Extended variants
information (count: 2350 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2350 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10058772	chr5:180033292-180033293	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538475863	chr5:180033299-180033300	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565786588	chr5:180033337-180033338	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117625266	chr5:180033360-180033361	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150569981	chr5:180033377-180033378	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374407135	chr5:180033378-180033379	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537269564	chr5:180033384-180033385	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200485788	chr5:180033386-180033387	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575191151	chr5:180033417-180033418	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529135171	chr5:180033418-180033419	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188950508	chr5:180033436-180033437	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536991696	chr5:180033438-180033439	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553693030	chr5:180033440-180033441	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554224249	chr5:180033480-180033481	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540996778	chr5:180033485-180033486	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574386814	chr5:180033494-180033495	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557588345	chr5:180033502-180033503	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551173666	chr5:180033520-180033521	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139561751	chr5:180033550-180033551	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181373014	chr5:180033559-180033560	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368020718	chr5:180033563-180033564	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186183359	chr5:180033595-180033596	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs307835	chr5:180033605-180033606	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11955716	chr5:180033633-180033634	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11955717	chr5:180033639-180033640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372600751	chr5:180033642-180033643	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551725476	chr5:180033676-180033677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571666443	chr5:180033729-180033730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs307834	chr5:180033738-180033739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115161506	chr5:180033763-180033764	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567898448	chr5:180033780-180033781	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531861538	chr5:180033794-180033795	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542518809	chr5:180033867-180033868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13177609	chr5:180033877-180033878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201801684	chr5:180033900-180033901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10068446	chr5:180033901-180033902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113270896	chr5:180033904-180033905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7724536	chr5:180033906-180033907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553727905	chr5:180033908-180033909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567139703	chr5:180033909-180033910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10068449	chr5:180033911-180033912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146958861	chr5:180033916-180033917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs66851547	chr5:180033920-180033921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374518964	chr5:180033924-180033925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557697330	chr5:180033950-180033951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28407656	chr5:180033953-180033954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191221364	chr5:180033994-180033995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547462591	chr5:180034002-180034003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556631219	chr5:180034013-180034014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182494926	chr5:180034018-180034019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180018800-180045800	Weak transcription	Right Atrium	heart
2	chr5:180024000-180039000	Weak transcription	Gastric	stomach
3	chr5:180027800-180039600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:180028000-180039200	Weak transcription	Lung	lung
5	chr5:180029400-180045600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:180029800-180043200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:180030400-180035200	Weak transcription	HUVEC	blood vessel
8	chr5:180031600-180035600	Weak transcription	Spleen	Spleen
9	chr5:180031600-180037200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:180032600-180033600	Enhancers	K562	blood
11	chr5:180032800-180033400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr5:180032800-180033400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:180032800-180033400	Enhancers	Pancreas	Pancrea
14	chr5:180032800-180033600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:180032800-180033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:180033200-180033600	Flanking Active TSS	Placenta	Placenta
17	chr5:180033200-180039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:180033600-180034600	Enhancers	Placenta	Placenta
19	chr5:180033600-180034800	Weak transcription	K562	blood
20	chr5:180033800-180035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:180034600-180035400	Weak transcription	Placenta	Placenta
22	chr5:180034800-180035200	Enhancers	K562	blood
23	chr5:180034800-180035600	Enhancers	HSMMtube	muscle
24	chr5:180035200-180035800	Flanking Active TSS	K562	blood
25	chr5:180035200-180036200	Enhancers	HUVEC	blood vessel
26	chr5:180035400-180035600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:180035400-180035600	Enhancers	Placenta	Placenta
28	chr5:180035400-180035800	Bivalent Enhancer	HepG2	liver
29	chr5:180035600-180037600	Bivalent Enhancer	Placenta	Placenta
30	chr5:180035600-180037600	Strong transcription	Spleen	Spleen
31	chr5:180035600-180043400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:180035800-180036000	Enhancers	K562	blood
33	chr5:180036000-180036400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:180036200-180036600	Weak transcription	HUVEC	blood vessel
35	chr5:180036600-180036800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:180036600-180037200	Enhancers	HUVEC	blood vessel
37	chr5:180037200-180037600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:180037200-180037600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:180037200-180041000	Weak transcription	HUVEC	blood vessel
40	chr5:180037200-180043200	Weak transcription	Adipose Nuclei	Adipose
41	chr5:180037400-180043400	Weak transcription	Right Ventricle	heart
42	chr5:180037600-180038800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:180037600-180039000	Weak transcription	Spleen	Spleen
44	chr5:180037600-180039200	Enhancers	Placenta	Placenta
45	chr5:180038000-180038200	Bivalent Enhancer	HepG2	liver
46	chr5:180038200-180038400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:180038800-180039200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:180039000-180039400	Genic enhancers	Spleen	Spleen
49	chr5:180039000-180040000	Strong transcription	Gastric	stomach
50	chr5:180039200-180039400	Genic enhancers	Lung	lung

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