Variant report

Variant	nsv613081
Chromosome Location	chr9:2024639-2044721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:287)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:287 , 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	ATF2	chr9:2043068-2043725	GM12878	blood:	n/a	n/a
2	ATF2	chr9:2043092-2043667	GM12878	blood:	n/a	n/a
3	BATF	chr9:2043270-2043543	GM12878	blood:	n/a	n/a
4	BATF	chr9:2043195-2043566	GM12878	blood:	n/a	n/a
5	BCLAF1	chr9:2043238-2043879	GM12878	blood:	n/a	chr9:2043484-2043493
6	BCLAF1	chr9:2043986-2044753	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:2025363-2025506	GM12878	blood:	n/a	n/a
8	BRCA1	chr9:2026782-2026792	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr9:2032166-2032576	K562	blood:	n/a	chr9:2032242-2032253 chr9:2032242-2032253
10	CEBPB	chr9:2032241-2032421	IMR90	lung:	n/a	chr9:2032242-2032253 chr9:2032242-2032253
11	CEBPB	chr9:2025509-2025819	HepG2	liver:	n/a	n/a
12	CHD2	chr9:2024864-2024867	GM12878	blood:	n/a	n/a
13	CHD2	chr9:2025357-2025540	GM12878	blood:	n/a	n/a
14	CTCF	chr9:2027420-2027570	GM06990	blood:	n/a	n/a
15	CTCF	chr9:2044480-2044630	AG09309	skin:	n/a	n/a
16	CTCF	chr9:2027251-2027350	GM12891	blood:	n/a	n/a
17	CTCF	chr9:2032946-2033014	LNCaP	prostate:	n/a	n/a
18	CUX1	chr9:2043289-2043642	GM12878	blood:	n/a	n/a
19	EBF1	chr9:2025044-2025529	GM12878	blood:	n/a	n/a
20	EBF1	chr9:2038293-2038642	GM12878	blood:	n/a	chr9:2038464-2038475
21	EBF1	chr9:2043274-2043472	GM12878	blood:	n/a	n/a
22	EBF1	chr9:2025186-2025395	GM12878	blood:	n/a	n/a
23	EBF1	chr9:2038330-2038633	GM12878	blood:	n/a	chr9:2038464-2038475
24	EP300	chr9:2032208-2032585	K562	blood:	n/a	chr9:2032457-2032471
25	EP300	chr9:2027860-2027941	K562	blood:	n/a	n/a
26	EP300	chr9:2025333-2025533	GM12878	blood:	n/a	n/a
27	EP300	chr9:2043243-2043798	GM12878	blood:	n/a	chr9:2043467-2043481 chr9:2043479-2043493 chr9:2043443-2043457
28	EP300	chr9:2032223-2032639	K562	blood:	n/a	chr9:2032457-2032471
29	EP300	chr9:2025155-2025469	GM12878	blood:	n/a	n/a
30	FOS	chr9:2038372-2038428	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr9:2026309-2027160	HUVEC	blood vessel:	n/a	chr9:2026551-2026563
32	FOXA1	chr9:2029735-2030111	T-47D	breast:	n/a	chr9:2029964-2029979
33	FOXA1	chr9:2029791-2030040	T-47D	breast:	n/a	chr9:2029964-2029979
34	FOXM1	chr9:2043090-2043738	GM12878	blood:	n/a	n/a
35	GATA1	chr9:2034336-2035024	PBDE	blood:	n/a	chr9:2034791-2034798 chr9:2034912-2034921 chr9:2034789-2034801 chr9:2034790-2034800 chr9:2034791-2034798 chr9:2034784-2034805 chr9:2034787-2034803 chr9:2034955-2034964 chr9:2034791-2034798 chr9:2034787-2034803
36	GATA1	chr9:2022779-2024940	PBDE	blood:	n/a	chr9:2023892-2023908 chr9:2023684-2023694 chr9:2023896-2023903 chr9:2023896-2023903 chr9:2023896-2023903
37	GATA2	chr9:2029760-2030272	SH-SY5Y	brain:	n/a	n/a
38	GATA2	chr9:2027685-2028107	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr9:2027665-2028208	MCF-7	breast:	n/a	n/a
40	GATA3	chr9:2027752-2028035	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr9:2027596-2028406	MCF-7	breast:	n/a	n/a
42	GATA3	chr9:2033293-2033351	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr9:2027719-2028138	T-47D	breast:	n/a	n/a
44	GATA3	chr9:2027695-2028037	T-47D	breast:	n/a	n/a
45	GATA3	chr9:2027597-2028183	MCF-7	breast:	n/a	n/a
46	GATA3	chr9:2029667-2030093	T-47D	breast:	n/a	chr9:2029680-2029690 chr9:2029683-2029690
47	GATA3	chr9:2029746-2030098	T-47D	breast:	n/a	n/a
48	GATA3	chr9:2027689-2028066	MCF-7	breast:	n/a	n/a
49	HDAC2	chr9:2027751-2028206	MCF-7	breast:	n/a	n/a
50	IRF1	chr9:2032188-2032695	K562	blood:	n/a	chr9:2032414-2032434 chr9:2032412-2032426

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2044055-2044105	PANC-1	pancreas:	n/a
2	chr9:2044055-2044105	LNCaP	prostate:	n/a
3	chr9:2044055-2044105	AoSMC	blood vessel:	n/a
4	chr9:2044055-2044105	ProgFib	skin:	n/a
5	chr9:2044055-2044105	SK-N-SH_RA	brain:	n/a
6	chr9:2044055-2044105	NHDF-neo	bronchial:	n/a
7	chr9:2044055-2044105	AG04449	skin:	fetal
8	chr9:2044055-2044105	U87	brain:	n/a
9	chr9:2044055-2044105	Hela-S3	cervix:	n/a
10	chr9:2044055-2044105	Jurkat	blood:	n/a
11	chr9:2044055-2044105	GM19239	blood:	n/a
12	chr9:2044055-2044105	HCM	heart:	n/a
13	chr9:2044055-2044105	SKMC	muscle:	n/a
14	chr9:2044055-2044105	HIPEpiC	eye:	n/a
15	chr9:2044055-2044105	PrEC	prostate:	n/a
16	chr9:2044055-2044105	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:2044055-2044105	NT2-D1	testis:	n/a
18	chr9:2044055-2044105	HAEpiC	amniotic membrane:	n/a
19	chr9:2044055-2044105	SK-N-MC	brain:	n/a
20	chr9:2044055-2044105	HUVEC	blood vessel:	n/a
21	chr9:2044055-2044105	MCF-7	breast:	n/a
22	chr9:2044055-2044105	HMEC	breast:	n/a
23	chr9:2044055-2044105	BJ	skin:	n/a
24	chr9:2044055-2044105	HCF	heart:	n/a
25	chr9:2044055-2044105	NB4	blood:	n/a
26	chr9:2044055-2044105	HEEpiC	esophagus:	n/a
27	chr9:2044055-2044105	AG09309	skin:	n/a
28	chr9:2044055-2044105	HRPEpiC	eye:	n/a
29	chr9:2044055-2044105	NH-A	brain:	n/a
30	chr9:2044055-2044105	AG09319	gingival:	n/a
31	chr9:2044055-2044105	HRE	kidney:	n/a
32	chr9:2044055-2044105	SAEC	small airway:	n/a
33	chr9:2044055-2044105	ECC-1	luminal epithelium:	n/a
34	chr9:2044055-2044105	AG04450	lung:	fetal
35	chr9:2044055-2044105	Hepatocyte	liver:	n/a
36	chr9:2044055-2044105	T-47D	breast:	n/a
37	chr9:2044055-2044105	HL-60	blood:	n/a
38	chr9:2044055-2044105	HepG2	liver:	n/a
39	chr9:2044055-2044105	CMK	blood:	n/a
40	chr9:2044055-2044105	HNPCEpiC	eye:	n/a
41	chr9:2044055-2044105	GM06990	blood:	n/a
42	chr9:2044055-2044105	SK-N-SH	brain:	n/a
43	chr9:2044055-2044105	HEK293	kidney:	embryo
44	chr9:2044055-2044105	H1-hESC	embryonic stem cell:	embryo
45	chr9:2044055-2044105	AG10803	skin:	n/a
46	chr9:2044055-2044105	ovcar-3	ovarian:	n/a
47	chr9:2044055-2044105	HCPEpiC	choroid plexus:	n/a
48	chr9:2044055-2044105	MCF10A-Er-Src	breast:	n/a
49	chr9:2044055-2044105	RPTEC	kidney:	n/a
50	chr9:2044055-2044105	GM12891	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
2	chr9:2027773..2030143-chr9:2034628..2037514,2	K562	blood:
3	chr9:2025445..2029095-chr9:2029321..2031633,5	K562	blood:
4	chr9:2014062..2016473-chr9:2041837..2045472,3	MCF-7	breast:
5	chr9:2017363..2019516-chr9:2029024..2032521,3	K562	blood:
6	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
7	chr9:2035810..2037705-chr9:2044015..2046964,2	K562	blood:
8	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:
9	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:
10	chr9:2014683..2019202-chr9:2026620..2030174,6	MCF-7	breast:
11	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
12	chr9:2015330..2018297-chr9:2035684..2039047,3	MCF-7	breast:
13	chr9:2016219..2019918-chr9:2022215..2026324,5	MCF-7	breast:
14	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
15	chr9:2031596..2033809-chr9:2036447..2038109,2	MCF-7	breast:
16	chr9:2015290..2017230-chr9:2035454..2037354,2	MCF-7	breast:
17	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
18	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
19	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
20	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
21	chr9:2030993..2033791-chr9:2034490..2037168,2	K562	blood:
22	chr9:2015057..2017007-chr9:2029405..2032085,2	K562	blood:
23	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VLDLR-4	chr9:2042994-2046019	NONHSAT129986
2	lnc-KIAA0020-2	chr9:2041900-2042130	ENSG00000236199.1

No data

Variant related genes	Relation type
SMARCA2	TF binding region
SMARCA2	CpG island
ENSG00000236199	chromatin interactions
ENSG00000080503	chromatin interactions

Extended variants
information (count: 945 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10757122	chr9:2024639-2024640	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544705809	chr9:2024644-2024645	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs16936706	chr9:2024669-2024670	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74667309	chr9:2024673-2024674	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371923477	chr9:2024700-2024701	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545400068	chr9:2024777-2024778	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559162048	chr9:2024778-2024779	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530130602	chr9:2024781-2024782	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147569584	chr9:2024827-2024828	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572689782	chr9:2024854-2024855	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541493645	chr9:2024857-2024858	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114986271	chr9:2024858-2024859	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185748553	chr9:2024883-2024884	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540219507	chr9:2024974-2024975	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543830637	chr9:2024998-2024999	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562615735	chr9:2025040-2025041	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191635936	chr9:2025063-2025064	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551276810	chr9:2025078-2025079	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74508706	chr9:2025087-2025088	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368033915	chr9:2025088-2025089	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs61051578	chr9:2025090-2025091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571067839	chr9:2025127-2025128	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142609922	chr9:2025176-2025177	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547085919	chr9:2025188-2025189	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567395404	chr9:2025224-2025225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375075899	chr9:2025262-2025263	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535850444	chr9:2025270-2025271	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183793723	chr9:2025284-2025285	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561833355	chr9:2025287-2025288	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188677032	chr9:2025313-2025314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539300588	chr9:2025340-2025341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs193299615	chr9:2025347-2025348	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34693886	chr9:2025348-2025349	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532689554	chr9:2025423-2025424	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182260598	chr9:2025459-2025460	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552775908	chr9:2025484-2025485	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572675725	chr9:2025522-2025523	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs151289820	chr9:2025525-2025526	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140552859	chr9:2025526-2025527	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150469008	chr9:2025549-2025550	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186823083	chr9:2025557-2025558	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs138309951	chr9:2025581-2025582	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141316407	chr9:2025584-2025585	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544855730	chr9:2025665-2025666	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112418245	chr9:2025666-2025667	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569092176	chr9:2025714-2025715	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56190822	chr9:2025752-2025753	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144967171	chr9:2025756-2025757	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191620887	chr9:2025757-2025758	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560948234	chr9:2025770-2025771	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Peripheral t-cell lymphoma	19118030	CNVD

Chromatin state (count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2018000-2028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:2018200-2033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:2018400-2027200	Weak transcription	Esophagus	oesophagus
4	chr9:2019000-2032800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:2019000-2033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:2019200-2032600	Weak transcription	A549	lung
7	chr9:2019200-2039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:2019400-2025000	Weak transcription	Colonic Mucosa	Colon
9	chr9:2019400-2025400	Weak transcription	HepG2	liver
10	chr9:2019400-2025800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:2019400-2027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:2019400-2030000	Enhancers	Adipose Nuclei	Adipose
13	chr9:2019400-2030400	Enhancers	Colon Smooth Muscle	Colon
14	chr9:2019400-2030800	Weak transcription	NHDF-Ad	bronchial
15	chr9:2019400-2032800	Weak transcription	Osteobl	bone
16	chr9:2019400-2033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:2019400-2033200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:2019800-2026400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr9:2020000-2024800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:2020000-2033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:2020400-2028800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:2021200-2026200	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:2021400-2025800	Enhancers	Fetal Thymus	thymus
24	chr9:2021400-2026200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:2021400-2026200	Enhancers	Liver	Liver
26	chr9:2021400-2028400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr9:2021600-2025600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:2021600-2026000	Enhancers	Brain Hippocampus Middle	brain
29	chr9:2021600-2028200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:2021800-2025800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:2021800-2027400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:2022000-2025000	Enhancers	HUVEC	blood vessel
33	chr9:2022000-2026400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:2022000-2027200	Enhancers	Rectal Smooth Muscle	rectum
35	chr9:2022000-2032200	Weak transcription	NHEK	skin
36	chr9:2022200-2025600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr9:2022200-2028600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr9:2022200-2029600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:2022400-2025000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr9:2022400-2028200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:2022600-2025800	Enhancers	Fetal Heart	heart
42	chr9:2022600-2026000	Enhancers	Primary B cells from cord blood	blood
43	chr9:2022800-2025400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:2022800-2025800	Enhancers	Brain Substantia Nigra	brain
45	chr9:2022800-2025800	Flanking Active TSS	K562	blood
46	chr9:2022800-2026200	Enhancers	Ovary	ovary
47	chr9:2022800-2026200	Enhancers	Psoas Muscle	Psoas
48	chr9:2022800-2026200	Enhancers	Right Ventricle	heart
49	chr9:2022800-2029200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:2023000-2025400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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