Variant report

Variant	nsv584669
Chromosome Location	chr2:231183321-231258150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:993)
CpG islands
(count:427)
Chromatin interactive
region (count:40)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:231193785-231193842	K562	blood:	n/a	n/a
2	ARID3A	chr2:231195481-231195828	K562	blood:	n/a	n/a
3	ARID3A	chr2:231200089-231200926	K562	blood:	n/a	n/a
4	ARID3A	chr2:231220790-231221227	HepG2	liver:	n/a	n/a
5	ATF1	chr2:231195509-231195828	K562	blood:	n/a	n/a
6	ATF1	chr2:231200164-231200933	K562	blood:	n/a	n/a
7	ATF2	chr2:231191449-231192490	GM12878	blood:	n/a	n/a
8	ATF2	chr2:231212653-231213056	GM12878	blood:	n/a	n/a
9	ATF2	chr2:231212671-231213120	GM12878	blood:	n/a	n/a
10	ATF2	chr2:231183218-231184347	GM12878	blood:	n/a	n/a
11	ATF2	chr2:231191499-231192552	GM12878	blood:	n/a	n/a
12	ATF3	chr2:231187989-231188190	K562	blood:	n/a	n/a
13	ATF3	chr2:231191653-231192040	K562	blood:	n/a	n/a
14	ATF3	chr2:231195446-231195770	K562	blood:	n/a	n/a
15	BACH1	chr2:231246869-231247136	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:231195688-231195715	K562	blood:	n/a	n/a
17	BACH1	chr2:231212939-231212941	K562	blood:	n/a	n/a
18	BATF	chr2:231192119-231192378	GM12878	blood:	n/a	n/a
19	BATF	chr2:231191613-231192080	GM12878	blood:	n/a	chr2:231191862-231191873
20	BATF	chr2:231212475-231213126	GM12878	blood:	n/a	n/a
21	BATF	chr2:231212698-231213095	GM12878	blood:	n/a	n/a
22	BATF	chr2:231183939-231184211	GM12878	blood:	n/a	n/a
23	BATF	chr2:231223054-231223350	GM12878	blood:	n/a	chr2:231223160-231223171
24	BCL11A	chr2:231183914-231184198	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:231212720-231213098	GM12878	blood:	n/a	n/a
26	BCL3	chr2:231183905-231184420	GM12878	blood:	n/a	n/a
27	BCLAF1	chr2:231191490-231192616	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:231183163-231183628	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:231183804-231184388	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:231212896-231213138	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:231200051-231200459	K562	blood:	n/a	n/a
32	BHLHE40	chr2:231183871-231184059	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:231187972-231188245	K562	blood:	n/a	n/a
34	BHLHE40	chr2:231191722-231192202	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:231195575-231195864	K562	blood:	n/a	n/a
36	BHLHE40	chr2:231191646-231192075	K562	blood:	n/a	n/a
37	BRCA1	chr2:231188205-231188381	HepG2	liver:	n/a	n/a
38	CBX3	chr2:231207951-231208212	K562	blood:	n/a	n/a
39	CBX3	chr2:231187268-231187635	K562	blood:	n/a	n/a
40	CBX3	chr2:231191548-231192096	K562	blood:	n/a	n/a
41	CBX3	chr2:231187908-231188441	K562	blood:	n/a	n/a
42	CBX3	chr2:231195454-231195813	K562	blood:	n/a	n/a
43	CBX3	chr2:231206580-231206982	K562	blood:	n/a	n/a
44	CBX3	chr2:231211141-231211548	K562	blood:	n/a	n/a
45	CEBPB	chr2:231190376-231190754	A549	lung:	n/a	chr2:231190563-231190572 chr2:231190561-231190574 chr2:231190563-231190572 chr2:231190562-231190573 chr2:231190563-231190572 chr2:231190563-231190572
46	CEBPB	chr2:231191467-231192871	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr2:231191437-231191997	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:231195444-231195748	K562	blood:	n/a	n/a
49	CEBPB	chr2:231220732-231221114	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:231190412-231190741	Hela-S3	cervix:	n/a	chr2:231190563-231190572 chr2:231190561-231190574 chr2:231190563-231190572 chr2:231190562-231190573 chr2:231190563-231190572 chr2:231190563-231190572

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:231190414-231190464	ovcar-3	ovarian:	n/a
2	chr2:231190414-231190464	HIPEpiC	eye:	n/a
3	chr2:231235574-231235624	RPTEC	kidney:	n/a
4	chr2:231191876-231191926	RPTEC	kidney:	n/a
5	chr2:231235574-231235624	HCT-116	colon:	n/a
6	chr2:231191893-231191943	HEK293	kidney:	embryo
7	chr2:231191876-231191926	HRPEpiC	eye:	n/a
8	chr2:231191876-231191926	GM12891	blood:	n/a
9	chr2:231191727-231191777	Hela-S3	cervix:	n/a
10	chr2:231235574-231235624	GM19239	blood:	n/a
11	chr2:231191662-231191712	SK-N-SH	brain:	n/a
12	chr2:231191662-231191712	H1-hESC	embryonic stem cell:	embryo
13	chr2:231191893-231191943	HRCEpiC	kidney:	n/a
14	chr2:231190414-231190464	PANC-1	pancreas:	n/a
15	chr2:231191662-231191712	PFSK-1	brain:	n/a
16	chr2:231235574-231235624	Jurkat	blood:	n/a
17	chr2:231191893-231191943	GM19239	blood:	n/a
18	chr2:231191727-231191777	PANC-1	pancreas:	n/a
19	chr2:231190414-231190464	NB4	blood:	n/a
20	chr2:231191893-231191943	ProgFib	skin:	n/a
21	chr2:231191893-231191943	RPTEC	kidney:	n/a
22	chr2:231191916-231191966	H1-hESC	embryonic stem cell:	embryo
23	chr2:231191662-231191712	HRPEpiC	eye:	n/a
24	chr2:231191662-231191712	AoSMC	blood vessel:	n/a
25	chr2:231191876-231191926	BE2_C	brain:	n/a
26	chr2:231191662-231191712	K562	blood:	n/a
27	chr2:231191876-231191926	Jurkat	blood:	n/a
28	chr2:231191876-231191926	Hela-S3	cervix:	n/a
29	chr2:231191876-231191926	K562	blood:	n/a
30	chr2:231191876-231191926	HCM	heart:	n/a
31	chr2:231191662-231191712	Hela-S3	cervix:	n/a
32	chr2:231235574-231235624	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:231190414-231190464	BE2_C	brain:	n/a
34	chr2:231191876-231191926	MCF-7	breast:	n/a
35	chr2:231191893-231191943	NHDF-neo	bronchial:	n/a
36	chr2:231190414-231190464	HEEpiC	esophagus:	n/a
37	chr2:231191893-231191943	PrEC	prostate:	n/a
38	chr2:231191662-231191712	HUVEC	blood vessel:	n/a
39	chr2:231191916-231191966	NH-A	brain:	n/a
40	chr2:231191727-231191777	ovcar-3	ovarian:	n/a
41	chr2:231191662-231191712	MCF10A-Er-Src	breast:	n/a
42	chr2:231190414-231190464	H1-hESC	embryonic stem cell:	embryo
43	chr2:231191662-231191712	AG09319	gingival:	n/a
44	chr2:231191662-231191712	GM12892	blood:	n/a
45	chr2:231191893-231191943	HMEC	breast:	n/a
46	chr2:231191727-231191777	GM06990	blood:	n/a
47	chr2:231191662-231191712	BE2_C	brain:	n/a
48	chr2:231235574-231235624	HMEC	breast:	n/a
49	chr2:231191893-231191943	H1-hESC	embryonic stem cell:	embryo
50	chr2:231190414-231190464	HRE	kidney:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:231194037..231196548-chr2:231226140..231228040,2	K562	blood:
2	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
3	chr2:231187675..231188630-chr2:231663234..231663815,2	K562	blood:
4	chr2:231245270..231247001-chr2:231250596..231253585,2	K562	blood:
5	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:
6	chr2:231208083..231209786-chr2:231217678..231219607,2	K562	blood:
7	chr2:231192831..231194646-chr2:231195490..231197463,2	K562	blood:
8	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:
9	chr2:231191754..231192275-chr2:231280477..231281313,4	HCT-116	colon:
10	chr2:231187450..231190323-chr2:231192038..231194221,2	K562	blood:
11	chr2:231187795..231189523-chr2:231196681..231199404,2	MCF-7	breast:
12	chr2:231191663..231192385-chr2:231280228..231281288,3	Hela-S3	cervix:
13	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
14	chr2:231187795..231189523-chr2:231196681..231199404,2	MCF-7	breast:
15	chr16:17916509..17917287-chr2:231255356..231256048,2	MCF-7	breast:
16	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:
17	chr2:231191400..231192273-chr2:231280039..231281003,2	MCF-7	breast:
18	chr2:231250673..231252951-chr2:231254109..231256319,2	K562	blood:
19	chr2:231187450..231190323-chr2:231192038..231194221,2	K562	blood:
20	chr2:231182687..231184963-chr2:231663131..231665649,2	K562	blood:
21	chr2:231225373..231227509-chr2:231238018..231240508,2	MCF-7	breast:
22	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:
23	chr2:231192831..231194646-chr2:231195490..231197463,2	K562	blood:
24	chr2:231208083..231209786-chr2:231217678..231219607,2	K562	blood:
25	chr2:231250673..231252951-chr2:231254109..231256319,2	K562	blood:
26	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
27	chr2:231195214..231197850-chr2:231199409..231202103,3	K562	blood:
28	chr2:231194037..231196548-chr2:231226140..231228040,2	K562	blood:
29	chr2:231250470..231252017-chr2:231286033..231287832,2	K562	blood:
30	chr2:231245270..231247001-chr2:231250596..231253585,2	K562	blood:
31	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
32	chr2:231199506..231201405-chr2:231206253..231208187,2	K562	blood:
33	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:
34	chr2:231211181..231213107-chr2:231272080..231274624,2	K562	blood:
35	chr2:231187646..231188478-chr2:231276184..231277085,2	HCT-116	colon:
36	chr2:231225373..231227509-chr2:231238018..231240508,2	MCF-7	breast:
37	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:
38	chr2:231195214..231197850-chr2:231199409..231202103,3	K562	blood:
39	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:
40	chr2:231177190..231178996-chr2:231181299..231183714,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP140-5	chr2:231236313-231236366	NONHSAT077278
2	lnc-SP140-5	chr2:231256430-231256522	NONHSAT077280
3	lnc-SP140-5	chr2:231253274-231253501	NONHSAT077279
4	lnc-SP140-5	chr2:231258129-231258176	NONHSAT077278
5	lnc-SP140-5	chr2:231249956-231250019	NONHSAT077279
6	lnc-SP140-5	chr2:231249939-231250019	NONHSAT077278
7	lnc-SP140-5	chr2:231253274-231253348	NONHSAT077278
8	lnc-SP140-5	chr2:231256802-231256944	NONHSAT077280
9	lnc-SP140-5	chr2:231248225-231248290	NONHSAT077278
10	lnc-SP140-5	chr2:231256802-231256944	NONHSAT077278
11	lnc-SP140-5	chr2:231258129-231258176	NONHSAT077280
12	lnc-SP140-5	chr2:231254634-231254738	NONHSAT077278
13	lnc-SP140-5	chr2:231235621-231235682	NONHSAT077278

No data

Variant related genes	Relation type
SP140L	TF binding region
SP140L	CpG island
ENSG00000067066	chromatin interactions
ENSG00000185404	chromatin interactions

Extended variants
information (count: 2826 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2826 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs720977	chr2:231183321-231183322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536662531	chr2:231183322-231183323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555313988	chr2:231183338-231183339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573601627	chr2:231183342-231183343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188864104	chr2:231183370-231183371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs720976	chr2:231183412-231183413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs13005147	chr2:231183510-231183511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575336639	chr2:231183518-231183519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370729661	chr2:231183520-231183521	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4349337	chr2:231183543-231183544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577463518	chr2:231183561-231183562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34709409	chr2:231183640-231183641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544297156	chr2:231183710-231183711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373900293	chr2:231183721-231183722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564459608	chr2:231183767-231183768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11679076	chr2:231183774-231183775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs11684950	chr2:231183786-231183787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562019225	chr2:231183798-231183799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138320113	chr2:231183820-231183821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193218973	chr2:231183892-231183893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527647788	chr2:231183953-231183954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs368711998	chr2:231183991-231183992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551916401	chr2:231184039-231184040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569671673	chr2:231184072-231184073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6726527	chr2:231184106-231184107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs143854216	chr2:231184123-231184124	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183803806	chr2:231184124-231184125	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146303214	chr2:231184141-231184142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115949574	chr2:231184164-231184165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375164810	chr2:231184203-231184204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188765304	chr2:231184207-231184208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557092789	chr2:231184227-231184228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552749317	chr2:231184280-231184281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576466370	chr2:231184314-231184315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113784203	chr2:231184319-231184320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562158848	chr2:231184409-231184410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2702265	chr2:231184410-231184411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192137225	chr2:231184506-231184507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2555835	chr2:231184560-231184561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541420432	chr2:231184563-231184564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560103476	chr2:231184577-231184578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs6727201	chr2:231184587-231184588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548288317	chr2:231184606-231184607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551684944	chr2:231184689-231184690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568088816	chr2:231184690-231184691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184310370	chr2:231184695-231184696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188507155	chr2:231184708-231184709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567001832	chr2:231184901-231184902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141447624	chr2:231184926-231184927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546156226	chr2:231185007-231185008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1891 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:231175000-231183800	Weak transcription	HMEC	breast
3	chr2:231180800-231183600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:231181000-231183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:231181800-231183400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:231182000-231183400	Enhancers	Thymus	Thymus
7	chr2:231182000-231184400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:231182200-231183800	Weak transcription	Right Atrium	heart
9	chr2:231182200-231185200	Enhancers	Fetal Thymus	thymus
10	chr2:231182400-231183400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:231182400-231183600	Weak transcription	Spleen	Spleen
12	chr2:231182400-231184000	Weak transcription	Lung	lung
13	chr2:231182400-231184600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:231182400-231184800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:231182400-231184800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:231182400-231185200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:231182600-231183400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:231182600-231183600	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:231182600-231183600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:231182600-231184600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:231182600-231184800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:231182600-231185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:231182800-231184800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:231183000-231183400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:231183000-231183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:231183000-231184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:231183000-231184000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:231183000-231184200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:231183000-231184200	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:231183000-231184400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:231183000-231184400	Enhancers	Right Ventricle	heart
32	chr2:231183000-231184800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:231183000-231184800	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:231183000-231185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:231183200-231183600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:231183200-231184000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:231183200-231184000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:231183200-231184000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:231183200-231184800	Flanking Active TSS	Dnd41	blood
40	chr2:231183400-231184000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr2:231183400-231184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:231183400-231184000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:231183400-231184000	Enhancers	Stomach Mucosa	stomach
44	chr2:231183400-231184200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:231183400-231184200	Flanking Active TSS	Thymus	Thymus
46	chr2:231183400-231184400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:231183400-231184400	Enhancers	Adipose Nuclei	Adipose
48	chr2:231183400-231184400	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:231183400-231184400	Enhancers	Left Ventricle	heart
50	chr2:231183400-231184400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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