Variant report

Variant	nsv1005665
Chromosome Location	chr2:111610107-111762039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1580)
CpG islands
(count:306)
Chromatin interactive
region (count:51)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:111619242-111619732	HepG2	liver:	n/a	n/a
2	ATF2	chr2:111615868-111616322	GM12878	blood:	n/a	n/a
3	ATF2	chr2:111632494-111633133	GM12878	blood:	n/a	n/a
4	ATF2	chr2:111622695-111623275	GM12878	blood:	n/a	n/a
5	ATF2	chr2:111622752-111623228	GM12878	blood:	n/a	n/a
6	ATF2	chr2:111639334-111639882	GM12878	blood:	n/a	n/a
7	ATF2	chr2:111615792-111616378	GM12878	blood:	n/a	n/a
8	ATF2	chr2:111629197-111629667	GM12878	blood:	n/a	n/a
9	BACH1	chr2:111663096-111663148	K562	blood:	n/a	n/a
10	BATF	chr2:111630505-111630798	GM12878	blood:	n/a	chr2:111630621-111630632
11	BATF	chr2:111629186-111629619	GM12878	blood:	n/a	n/a
12	BATF	chr2:111629238-111629641	GM12878	blood:	n/a	n/a
13	BATF	chr2:111630458-111630777	GM12878	blood:	n/a	chr2:111630621-111630632
14	BATF	chr2:111639556-111639889	GM12878	blood:	n/a	n/a
15	BATF	chr2:111632672-111633051	GM12878	blood:	n/a	n/a
16	BATF	chr2:111622698-111623140	GM12878	blood:	n/a	chr2:111623063-111623073
17	BATF	chr2:111624673-111624965	GM12878	blood:	n/a	n/a
18	BATF	chr2:111639538-111639837	GM12878	blood:	n/a	n/a
19	BATF	chr2:111624741-111624995	GM12878	blood:	n/a	n/a
20	BATF	chr2:111622737-111623123	GM12878	blood:	n/a	chr2:111623063-111623073
21	BATF	chr2:111632580-111633070	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:111639539-111639880	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:111629238-111629561	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:111632869-111633155	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:111639546-111639838	GM12878	blood:	n/a	n/a
26	BCL3	chr2:111615868-111616250	GM12878	blood:	n/a	n/a
27	BCL3	chr2:111639525-111639825	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:111639381-111639882	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:111622708-111623111	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:111668087-111668350	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:111719244-111719411	K562	blood:	n/a	n/a
32	BHLHE40	chr2:111751478-111751851	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:111613162-111613337	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:111632092-111632288	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:111701203-111701216	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:111632495-111633138	GM12878	blood:	n/a	n/a
37	BHLHE40	chr2:111719343-111719501	GM12878	blood:	n/a	n/a
38	BHLHE40	chr2:111708551-111708872	K562	blood:	n/a	n/a
39	BHLHE40	chr2:111621396-111621608	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:111664225-111664476	K562	blood:	n/a	n/a
41	BHLHE40	chr2:111629317-111629602	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:111615873-111616287	GM12878	blood:	n/a	n/a
43	BHLHE40	chr2:111611143-111611428	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:111632500-111632817	HepG2	liver:	n/a	n/a
45	BHLHE40	chr2:111630488-111630908	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:111751470-111751890	K562	blood:	n/a	n/a
47	BHLHE40	chr2:111751463-111751840	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:111632538-111632915	K562	blood:	n/a	n/a
49	BHLHE40	chr2:111622697-111623181	GM12878	blood:	n/a	n/a
50	BRCA1	chr2:111732519-111732631	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111639212-111639262	AG09309	skin:	n/a
2	chr2:111639212-111639262	AG09309	skin:	n/a
3	chr2:111662494-111662544	RPTEC	kidney:	n/a
4	chr2:111737646-111737696	HepG2	liver:	n/a
5	chr2:111623300-111623350	AG04450	lung:	fetal
6	chr2:111633044-111633094	SK-N-SH	brain:	n/a
7	chr2:111639212-111639262	HRE	kidney:	n/a
8	chr2:111639212-111639262	SK-N-MC	brain:	n/a
9	chr2:111662494-111662544	K562	blood:	n/a
10	chr2:111623300-111623350	HMEC	breast:	n/a
11	chr2:111633044-111633094	HIPEpiC	eye:	n/a
12	chr2:111639212-111639262	PFSK-1	brain:	n/a
13	chr2:111662494-111662544	HCT-116	colon:	n/a
14	chr2:111737646-111737696	BE2_C	brain:	n/a
15	chr2:111662494-111662544	HRPEpiC	eye:	n/a
16	chr2:111737646-111737696	ECC-1	luminal epithelium:	n/a
17	chr2:111639212-111639262	SKMC	muscle:	n/a
18	chr2:111639212-111639262	HL-60	blood:	n/a
19	chr2:111662494-111662544	SK-N-SH	brain:	n/a
20	chr2:111639212-111639262	T-47D	breast:	n/a
21	chr2:111633044-111633094	GM12878	blood:	n/a
22	chr2:111639212-111639262	MCF10A-Er-Src	breast:	n/a
23	chr2:111639212-111639262	BE2_C	brain:	n/a
24	chr2:111639212-111639262	Caco-2	colon:	n/a
25	chr2:111737646-111737696	NH-A	brain:	n/a
26	chr2:111662494-111662544	GM12892	blood:	n/a
27	chr2:111639212-111639262	A549	lung:	n/a
28	chr2:111623300-111623350	SAEC	small airway:	n/a
29	chr2:111737646-111737696	SKMC	muscle:	n/a
30	chr2:111633044-111633094	HRPEpiC	eye:	n/a
31	chr2:111623300-111623350	HAEpiC	amniotic membrane:	n/a
32	chr2:111639212-111639262	U87	brain:	n/a
33	chr2:111633044-111633094	U87	brain:	n/a
34	chr2:111662494-111662544	HNPCEpiC	eye:	n/a
35	chr2:111639212-111639262	BJ	skin:	n/a
36	chr2:111662494-111662544	A549	lung:	n/a
37	chr2:111623300-111623350	HIPEpiC	eye:	n/a
38	chr2:111633044-111633094	PFSK-1	brain:	n/a
39	chr2:111633044-111633094	CMK	blood:	n/a
40	chr2:111662494-111662544	AG04450	lung:	fetal
41	chr2:111623300-111623350	GM06990	blood:	n/a
42	chr2:111639212-111639262	HepG2	liver:	n/a
43	chr2:111623300-111623350	A549	lung:	n/a
44	chr2:111633044-111633094	NT2-D1	testis:	n/a
45	chr2:111639212-111639262	PrEC	prostate:	n/a
46	chr2:111623300-111623350	SKMC	muscle:	n/a
47	chr2:111639212-111639262	NB4	blood:	n/a
48	chr2:111623300-111623350	GM12878	blood:	n/a
49	chr2:111662494-111662544	NB4	blood:	n/a
50	chr2:111623300-111623350	PrEC	prostate:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:111732418..111734781-chr2:111735661..111737326,2	K562	blood:
2	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
3	chr2:111732418..111734781-chr2:111735661..111737326,2	K562	blood:
4	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:
5	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
6	chr2:111618005..111620750-chr2:111621836..111623864,4	MCF-7	breast:
7	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:
8	chr2:111623256..111625222-chr2:111876740..111879332,2	MCF-7	breast:
9	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
10	chr2:111736021..111738383-chr2:111741871..111744743,2	K562	blood:
11	chr2:111729518..111731846-chr2:111877680..111879315,2	MCF-7	breast:
12	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
13	chr2:111706009..111708285-chr2:111713250..111715688,2	MCF-7	breast:
14	chr2:111755868..111757843-chr2:111761863..111764487,2	MCF-7	breast:
15	chr2:111736021..111738383-chr2:111741871..111744743,2	K562	blood:
16	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
17	chr2:111706009..111708285-chr2:111713250..111715688,2	MCF-7	breast:
18	chr2:111569200..111569886-chr2:111611955..111612624,2	MCF-7	breast:
19	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
20	chr2:111606890..111608485-chr2:111612122..111613694,2	K562	blood:
21	chr2:111645690..111647920-chr2:111650857..111653776,2	MCF-7	breast:
22	chr2:111589730..111592608-chr2:111607480..111611247,3	MCF-7	breast:
23	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
24	chr2:111701030..111703038-chr2:111736681..111738220,2	MCF-7	breast:
25	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
26	chr2:111652533..111654321-chr2:111657541..111660386,2	K562	blood:
27	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
28	chr2:111755985..111757580-chr2:111758045..111760842,2	MCF-7	breast:
29	chr2:111750836..111753179-chr2:111879308..111880841,2	MCF-7	breast:
30	chr2:111695965..111698914-chr2:111704650..111707242,2	MCF-7	breast:
31	chr2:111755985..111757580-chr2:111758045..111760842,2	MCF-7	breast:
32	chr2:111701030..111703038-chr2:111736681..111738220,2	MCF-7	breast:
33	chr2:111595145..111597268-chr2:111609719..111611330,2	K562	blood:
34	chr2:111726104..111728832-chr2:111876784..111878487,2	K562	blood:
35	chr2:111695761..111698354-chr2:111863269..111865733,2	K562	blood:
36	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
37	chr2:111741788..111745598-chr2:111748398..111751516,4	MCF-7	breast:
38	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
39	chr2:111604170..111606952-chr2:111619066..111621745,2	MCF-7	breast:
40	chr2:111695965..111698914-chr2:111704650..111707242,2	MCF-7	breast:
41	chr2:111753125..111755721-chr2:111760701..111762787,2	MCF-7	breast:
42	chr2:111611685..111612458-chr2:111874292..111875234,3	MCF-7	breast:
43	chr2:111650917..111653257-chr2:111655210..111658130,2	K562	blood:
44	chr2:111659330..111661560-chr2:111667127..111669037,2	K562	blood:
45	chr2:111755868..111757843-chr2:111761863..111764487,2	MCF-7	breast:
46	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
47	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:
48	chr2:111603779..111605764-chr2:111610713..111613145,2	K562	blood:
49	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:
50	chr19:36066525..36067230-chr2:111654141..111654641,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-4	chr2:111753534-111753581	NONHSAT073610
2	lnc-BCL2L11-4	chr2:111753493-111753928	NONHSAT073609
3	lnc-BCL2L11-4	chr2:111739331-111739511	NONHSAT073609

No data

Variant related genes	Relation type
ACOXL	TF binding region
RPL5P9	TF binding region
ACOXL	CpG island
RPL5P9	CpG island
ENSG00000153094	chromatin interactions
ENSG00000153093	chromatin interactions

Extended variants
information (count: 5623 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:5623 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559016627	chr2:111610163-111610164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147285525	chr2:111610177-111610178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528119727	chr2:111610189-111610190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118020748	chr2:111610198-111610199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78207887	chr2:111610214-111610215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192262245	chr2:111610231-111610232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539890717	chr2:111610278-111610279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370470397	chr2:111610279-111610280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550759842	chr2:111610287-111610288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570613780	chr2:111610302-111610303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181956194	chr2:111610315-111610316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186992367	chr2:111610415-111610416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377317295	chr2:111610420-111610421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566950165	chr2:111610423-111610424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190390374	chr2:111610424-111610425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549075370	chr2:111610452-111610453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569545714	chr2:111610512-111610513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538111035	chr2:111610541-111610542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558029780	chr2:111610581-111610582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557338169	chr2:111610596-111610597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577860477	chr2:111610634-111610635	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534109356	chr2:111610668-111610669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79575500	chr2:111610676-111610677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373698376	chr2:111610679-111610680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140706930	chr2:111610688-111610689	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541822996	chr2:111610690-111610691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575633692	chr2:111610718-111610719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182591005	chr2:111610727-111610728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186958153	chr2:111610747-111610748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35877044	chr2:111610795-111610796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370602968	chr2:111610802-111610803	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10183338	chr2:111610816-111610817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs555943918	chr2:111610823-111610824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564362327	chr2:111610827-111610828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533190374	chr2:111610832-111610833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546788962	chr2:111610854-111610855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560651525	chr2:111610863-111610864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189830223	chr2:111610884-111610885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549364208	chr2:111610914-111610915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569204145	chr2:111610938-111610939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182787520	chr2:111610954-111610955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551694066	chr2:111610955-111610956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144582260	chr2:111611003-111611004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187452427	chr2:111611082-111611083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10193050	chr2:111611098-111611099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574102848	chr2:111611149-111611150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151248975	chr2:111611189-111611190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535156022	chr2:111611192-111611193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541296063	chr2:111611207-111611208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139608353	chr2:111611216-111611217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:111601400-111611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:111601800-111611600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:111604000-111611600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:111604800-111615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:111605000-111611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111605600-111610200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:111608000-111618800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:111608200-111613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:111608400-111610400	Enhancers	Dnd41	blood
12	chr2:111608400-111610800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:111608400-111611800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:111608400-111613400	Enhancers	Fetal Thymus	thymus
15	chr2:111608600-111612400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:111608600-111612600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:111608600-111612600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:111608800-111611800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr2:111608800-111612000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:111608800-111612000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:111609000-111611000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:111609000-111611800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:111609000-111612800	Enhancers	Primary T cells from cord blood	blood
24	chr2:111609200-111611200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:111609200-111611200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:111609200-111611600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:111609200-111611800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:111609200-111612400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:111609400-111610600	Enhancers	Spleen	Spleen
30	chr2:111609400-111611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:111609400-111612800	Enhancers	Thymus	Thymus
32	chr2:111609600-111610200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:111609600-111611000	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:111609800-111610600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:111609800-111610600	Enhancers	Primary B cells from cord blood	blood
36	chr2:111609800-111611600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:111610000-111610600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:111610000-111611600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:111610200-111611000	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:111610200-111611600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:111610400-111611000	Flanking Active TSS	Dnd41	blood
42	chr2:111610600-111611600	Weak transcription	Primary B cells from cord blood	blood
43	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
44	chr2:111610800-111616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:111611000-111611400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:111611000-111612400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:111611000-111615600	Enhancers	Dnd41	blood
48	chr2:111611000-111615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:111611200-111612600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:111611200-111612800	Enhancers	GM12878-XiMat	blood

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