Variant report

Variant	nsv10104
Chromosome Location	chr2:98340272-98345152
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	BCL3	chr2:98344721-98344948	GM12878	blood:	n/a	chr2:98344843-98344852 chr2:98344844-98344853
2	BHLHE40	chr2:98342806-98343151	K562	blood:	n/a	n/a
3	CBX3	chr2:98343127-98343489	K562	blood:	n/a	n/a
4	CEBPB	chr2:98343740-98344063	K562	blood:	n/a	chr2:98343925-98343936
5	CEBPB	chr2:98343743-98344098	HepG2	liver:	n/a	chr2:98343925-98343936
6	CEBPB	chr2:98343746-98344092	A549	lung:	n/a	chr2:98343925-98343936
7	CEBPB	chr2:98344666-98344970	Hela-S3	cervix:	n/a	chr2:98344904-98344915 chr2:98344904-98344917 chr2:98344903-98344920
8	CEBPB	chr2:98343781-98343913	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:98343760-98344067	IMR90	lung:	n/a	chr2:98343925-98343936
10	CHD2	chr2:98343662-98343740	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:98341889-98342028	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:98341903-98342000	GM19238	blood:	n/a	n/a
13	CTCF	chr2:98341961-98341968	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:98341933-98341989	NHEK	skin:	n/a	n/a
15	CTCF	chr2:98341860-98342010	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr2:98341976-98341996	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:98341917-98342015	GM12891	blood:	n/a	n/a
18	CTCF	chr2:98341900-98342050	NB4	blood:	n/a	n/a
19	CTCF	chr2:98341899-98341998	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:98341820-98341970	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr2:98341916-98341964	GM19240	blood:	n/a	n/a
22	CTCF	chr2:98341856-98342040	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:98341916-98341997	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:98341794-98342177	K562	blood:	n/a	n/a
25	CTCF	chr2:98341920-98342070	GM12875	blood:	n/a	n/a
26	CTCF	chr2:98341840-98341990	HepG2	liver:	n/a	n/a
27	CTCF	chr2:98341850-98342054	HepG2	liver:	n/a	n/a
28	CTCF	chr2:98341853-98342092	K562	blood:	n/a	n/a
29	CTCF	chr2:98341880-98342056	K562	blood:	n/a	n/a
30	CTCF	chr2:98341821-98342010	K562	blood:	n/a	n/a
31	E2F4	chr2:98344590-98344894	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr2:98342720-98343117	K562	blood:	n/a	n/a
33	FOS	chr2:98344659-98345082	MCF10A-Er-Src	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
34	FOS	chr2:98344634-98345092	MCF10A-Er-Src	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
35	FOS	chr2:98344654-98345020	MCF10A-Er-Src	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
36	FOS	chr2:98344623-98345061	MCF10A-Er-Src	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
37	FOSL2	chr2:98344677-98345107	MCF-7	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
38	GTF2F1	chr2:98344688-98344893	Hela-S3	cervix:	n/a	n/a
39	HMGN3	chr2:98340647-98340945	K562	blood:	n/a	n/a
40	JUND	chr2:98344664-98345021	Hela-S3	cervix:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
41	MAX	chr2:98344608-98344963	Hela-S3	cervix:	n/a	chr2:98344843-98344852 chr2:98344844-98344853
42	MAX	chr2:98344889-98345127	K562	blood:	n/a	chr2:98345003-98345014 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
43	MAZ	chr2:98344681-98344847	Hela-S3	cervix:	n/a	n/a
44	MYC	chr2:98344590-98345191	MCF10A-Er-Src	breast:	n/a	chr2:98345003-98345014 chr2:98344843-98344852 chr2:98344844-98344853 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
45	MYC	chr2:98342839-98343113	K562	blood:	n/a	n/a
46	MYC	chr2:98344843-98344852	NB4	blood:	n/a	chr2:98344843-98344852
47	MYC	chr2:98344743-98344801	MCF-7	breast:	n/a	n/a
48	MYC	chr2:98344634-98345119	MCF10A-Er-Src	breast:	n/a	chr2:98345003-98345014 chr2:98344843-98344852 chr2:98344844-98344853 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
49	POLR2A	chr2:98344509-98345088	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:98344724-98345133	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98344873-98344923	Jurkat	blood:	n/a
2	chr2:98341557-98341607	AG04449	skin:	fetal
3	chr2:98341557-98341607	Hela-S3	cervix:	n/a
4	chr2:98340655-98340705	RPTEC	kidney:	n/a
5	chr2:98340425-98340475	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:98341557-98341607	HCM	heart:	n/a
7	chr2:98340425-98340475	Hela-S3	cervix:	n/a
8	chr2:98340425-98340475	MCF10A-Er-Src	breast:	n/a
9	chr2:98341557-98341607	ECC-1	luminal epithelium:	n/a
10	chr2:98340511-98340561	SAEC	small airway:	n/a
11	chr2:98340655-98340705	A549	lung:	n/a
12	chr2:98341557-98341607	PrEC	prostate:	n/a
13	chr2:98340425-98340475	PFSK-1	brain:	n/a
14	chr2:98340511-98340561	NH-A	brain:	n/a
15	chr2:98340655-98340705	HCF	heart:	n/a
16	chr2:98340921-98340971	H1-hESC	embryonic stem cell:	embryo
17	chr2:98340425-98340475	NHDF-neo	bronchial:	n/a
18	chr2:98340921-98340971	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:98340511-98340561	LNCaP	prostate:	n/a
20	chr2:98341557-98341607	BE2_C	brain:	n/a
21	chr2:98340655-98340705	Jurkat	blood:	n/a
22	chr2:98341557-98341607	HUVEC	blood vessel:	n/a
23	chr2:98340655-98340705	CMK	blood:	n/a
24	chr2:98340655-98340705	BJ	skin:	n/a
25	chr2:98340655-98340705	HL-60	blood:	n/a
26	chr2:98340511-98340561	AG10803	skin:	n/a
27	chr2:98341557-98341607	AG09309	skin:	n/a
28	chr2:98340425-98340475	HUVEC	blood vessel:	n/a
29	chr2:98340655-98340705	SAEC	small airway:	n/a
30	chr2:98340511-98340561	SK-N-SH	brain:	n/a
31	chr2:98340511-98340561	NHBE	bronchial:	n/a
32	chr2:98340655-98340705	HepG2	liver:	n/a
33	chr2:98340425-98340475	H1-hESC	embryonic stem cell:	embryo
34	chr2:98340921-98340971	AG09309	skin:	n/a
35	chr2:98340511-98340561	PANC-1	pancreas:	n/a
36	chr2:98340425-98340475	ProgFib	skin:	n/a
37	chr2:98340655-98340705	SK-N-MC	brain:	n/a
38	chr2:98344873-98344923	NH-A	brain:	n/a
39	chr2:98340425-98340475	U87	brain:	n/a
40	chr2:98340425-98340475	Jurkat	blood:	n/a
41	chr2:98340425-98340475	BJ	skin:	n/a
42	chr2:98340655-98340705	HIPEpiC	eye:	n/a
43	chr2:98340655-98340705	Caco-2	colon:	n/a
44	chr2:98341557-98341607	MCF10A-Er-Src	breast:	n/a
45	chr2:98340511-98340561	RPTEC	kidney:	n/a
46	chr2:98341557-98341607	AoSMC	blood vessel:	n/a
47	chr2:98340425-98340475	LNCaP	prostate:	n/a
48	chr2:98341557-98341607	SK-N-MC	brain:	n/a
49	chr2:98344873-98344923	NHDF-neo	bronchial:	n/a
50	chr2:98340655-98340705	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98207043..98207962-chr2:98341661..98342410,2	MCF-7	breast:
2	chr2:98329506..98332077-chr2:98344010..98346831,2	K562	blood:
3	chr2:98331870..98333821-chr2:98339114..98340858,2	MCF-7	breast:
4	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:
5	chr2:98340167..98342272-chr2:98350738..98353485,2	MCF-7	breast:
6	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:

Variant related genes	Relation type
ZAP70	TF binding region
ZAP70	CpG island
ENSG00000115085	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555080416	chr2:98340330-98340331	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6712517	chr2:98340364-98340365	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs559852316	chr2:98340398-98340399	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201916152	chr2:98340436-98340437	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200098110	chr2:98340462-98340463	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572934153	chr2:98340463-98340464	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189212561	chr2:98340482-98340483	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201403055	chr2:98340483-98340484	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199904922	chr2:98340484-98340485	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531121007	chr2:98340499-98340500	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201017088	chr2:98340503-98340504	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs202216858	chr2:98340520-98340521	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200425356	chr2:98340526-98340527	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs36014221	chr2:98340545-98340546	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201125862	chr2:98340578-98340579	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373708142	chr2:98340579-98340580	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201941891	chr2:98340588-98340589	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200409156	chr2:98340601-98340602	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56127120	chr2:98340604-98340605	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs56077145	chr2:98340605-98340606	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199611136	chr2:98340610-98340611	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200207787	chr2:98340627-98340628	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56222984	chr2:98340641-98340642	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201525133	chr2:98340645-98340646	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377195771	chr2:98340653-98340654	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138447206	chr2:98340655-98340656	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200701137	chr2:98340696-98340697	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs138628302	chr2:98340701-98340702	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201924061	chr2:98340707-98340708	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199499629	chr2:98340715-98340716	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113994172	chr2:98340738-98340739	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574258421	chr2:98340739-98340740	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201106827	chr2:98340749-98340750	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200679671	chr2:98340760-98340761	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56264206	chr2:98340807-98340808	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55845489	chr2:98340808-98340809	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs55679020	chr2:98340810-98340811	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542973270	chr2:98340814-98340815	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559342309	chr2:98340824-98340825	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs55668444	chr2:98340839-98340840	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111771234	chr2:98340842-98340843	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201551373	chr2:98340868-98340869	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199996419	chr2:98340871-98340872	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200514384	chr2:98340876-98340877	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200107228	chr2:98340904-98340905	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545129970	chr2:98340914-98340915	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs55824472	chr2:98340928-98340929	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201910784	chr2:98340931-98340932	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371153389	chr2:98340934-98340935	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560210342	chr2:98340990-98340991	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
3	chr2:98336000-98340400	Weak transcription	Spleen	Spleen
4	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
17	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:98337800-98343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:98337800-98357400	Strong transcription	Dnd41	blood
20	chr2:98338600-98340400	Enhancers	Placenta	Placenta
21	chr2:98338600-98341000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
23	chr2:98339200-98341400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:98339400-98342800	Weak transcription	HSMMtube	muscle
26	chr2:98339600-98340800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:98339800-98341800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:98339800-98341800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:98339800-98342000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:98339800-98342200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:98340000-98340600	ZNF genes & repeats	Esophagus	oesophagus
33	chr2:98340000-98341600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:98340200-98341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:98340400-98340600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr2:98340400-98340800	Bivalent Enhancer	Placenta	Placenta
37	chr2:98340400-98341000	ZNF genes & repeats	Lung	lung
38	chr2:98340400-98341000	Enhancers	Pancreas	Pancrea
39	chr2:98340400-98341000	ZNF genes & repeats	Spleen	Spleen
40	chr2:98340400-98341200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr2:98340600-98341000	ZNF genes & repeats	Gastric	stomach
42	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
43	chr2:98340800-98341000	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr2:98340800-98341000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr2:98340800-98341000	Bivalent Enhancer	Fetal Brain Female	brain
46	chr2:98341000-98341200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:98341000-98342000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:98341000-98342400	Strong transcription	Spleen	Spleen
49	chr2:98341000-98343000	Weak transcription	Lung	lung
50	chr2:98341000-98354800	Weak transcription	Gastric	stomach

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