Variant report

Variant	nsv821628
Chromosome Location	chr2:111993557-112248408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3131)
CpG islands
(count:244)
Chromatin interactive
region (count:16)
LncRNA
region (count:70)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:3131 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112191601-112191749	K562	blood:	n/a	n/a
2	ARID3A	chr2:112165582-112165606	K562	blood:	n/a	n/a
3	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
4	ARID3A	chr2:112004323-112004568	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
6	ARID3A	chr2:112134733-112134923	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:112221794-112221988	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:112142989-112143245	K562	blood:	n/a	n/a
9	ATF1	chr2:112139588-112139732	K562	blood:	n/a	n/a
10	ATF1	chr2:112174751-112174909	K562	blood:	n/a	n/a
11	ATF1	chr2:112123600-112123901	K562	blood:	n/a	n/a
12	ATF1	chr2:112191568-112191846	K562	blood:	n/a	n/a
13	ATF1	chr2:112104247-112104437	K562	blood:	n/a	n/a
14	ATF1	chr2:112174026-112174226	K562	blood:	n/a	n/a
15	ATF1	chr2:112165410-112165614	K562	blood:	n/a	n/a
16	ATF2	chr2:112236677-112236938	GM12878	blood:	n/a	n/a
17	ATF2	chr2:112183348-112183699	GM12878	blood:	n/a	n/a
18	ATF2	chr2:112183361-112183645	GM12878	blood:	n/a	n/a
19	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
20	BACH1	chr2:112143146-112143417	K562	blood:	n/a	n/a
21	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
22	BATF	chr2:112209363-112210356	GM12878	blood:	n/a	n/a
23	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
24	BATF	chr2:112195786-112196106	GM12878	blood:	n/a	n/a
25	BATF	chr2:112237987-112238183	GM12878	blood:	n/a	n/a
26	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
27	BATF	chr2:112182205-112182825	GM12878	blood:	n/a	n/a
28	BATF	chr2:112074635-112074933	GM12878	blood:	n/a	chr2:112074773-112074784
29	BATF	chr2:112073963-112074275	GM12878	blood:	n/a	n/a
30	BATF	chr2:112190573-112190841	GM12878	blood:	n/a	n/a
31	BATF	chr2:112220893-112221142	GM12878	blood:	n/a	n/a
32	BATF	chr2:112169777-112169962	GM12878	blood:	n/a	chr2:112169903-112169914
33	BATF	chr2:112125609-112126213	GM12878	blood:	n/a	chr2:112125629-112125642
34	BATF	chr2:112072875-112073150	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
35	BATF	chr2:112211973-112212259	GM12878	blood:	n/a	n/a
36	BATF	chr2:112193934-112194446	GM12878	blood:	n/a	chr2:112194264-112194272
37	BATF	chr2:112183252-112183819	GM12878	blood:	n/a	n/a
38	BATF	chr2:112198041-112198360	GM12878	blood:	n/a	n/a
39	BATF	chr2:112183233-112184090	GM12878	blood:	n/a	n/a
40	BATF	chr2:112209629-112210364	GM12878	blood:	n/a	n/a
41	BATF	chr2:112158949-112159184	GM12878	blood:	n/a	n/a
42	BATF	chr2:112158868-112159229	GM12878	blood:	n/a	chr2:112159209-112159219
43	BATF	chr2:112240605-112241034	GM12878	blood:	n/a	chr2:112240788-112240798
44	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
45	BATF	chr2:112131695-112131857	GM12878	blood:	n/a	n/a
46	BATF	chr2:112037291-112037501	GM12878	blood:	n/a	n/a
47	BATF	chr2:112236428-112237126	GM12878	blood:	n/a	n/a
48	BATF	chr2:112190544-112190853	GM12878	blood:	n/a	n/a
49	BATF	chr2:112029454-112029812	GM12878	blood:	n/a	chr2:112029663-112029674
50	BATF	chr2:112236417-112237152	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112124118-112124168	AG04449	skin:	fetal
2	chr2:111996799-111996849	HEK293	kidney:	embryo
3	chr2:111996799-111996849	IMR90	lung:	fetal
4	chr2:111996799-111996849	HIPEpiC	eye:	n/a
5	chr2:112124118-112124168	Caco-2	colon:	n/a
6	chr2:112124118-112124168	ProgFib	skin:	n/a
7	chr2:112124380-112124430	RPTEC	kidney:	n/a
8	chr2:111996799-111996849	RPTEC	kidney:	n/a
9	chr2:111996275-111996325	HAEpiC	amniotic membrane:	n/a
10	chr2:111996275-111996325	AG09319	gingival:	n/a
11	chr2:112124380-112124430	NHBE	bronchial:	n/a
12	chr2:111996799-111996849	LNCaP	prostate:	n/a
13	chr2:111996799-111996849	HCF	heart:	n/a
14	chr2:112124118-112124168	SK-N-MC	brain:	n/a
15	chr2:112124380-112124430	SAEC	small airway:	n/a
16	chr2:111996799-111996849	HMEC	breast:	n/a
17	chr2:112124118-112124168	HCT-116	colon:	n/a
18	chr2:112124118-112124168	HCM	heart:	n/a
19	chr2:112124380-112124430	GM06990	blood:	n/a
20	chr2:111996799-111996849	SK-N-SH	brain:	n/a
21	chr2:111996799-111996849	GM06990	blood:	n/a
22	chr2:112124380-112124430	AG04449	skin:	fetal
23	chr2:111996799-111996849	AG04450	lung:	fetal
24	chr2:112124118-112124168	T-47D	breast:	n/a
25	chr2:112124118-112124168	Jurkat	blood:	n/a
26	chr2:112124380-112124430	T-47D	breast:	n/a
27	chr2:112124380-112124430	MCF-7	breast:	n/a
28	chr2:112124118-112124168	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:111996275-111996325	ovcar-3	ovarian:	n/a
30	chr2:111996275-111996325	AG10803	skin:	n/a
31	chr2:112124118-112124168	GM19239	blood:	n/a
32	chr2:111996275-111996325	HEEpiC	esophagus:	n/a
33	chr2:111996799-111996849	Jurkat	blood:	n/a
34	chr2:112124380-112124430	PANC-1	pancreas:	n/a
35	chr2:111996799-111996849	Hela-S3	cervix:	n/a
36	chr2:112124380-112124430	HL-60	blood:	n/a
37	chr2:112124118-112124168	IMR90	lung:	fetal
38	chr2:112124380-112124430	HEEpiC	esophagus:	n/a
39	chr2:111996275-111996325	SAEC	small airway:	n/a
40	chr2:111996275-111996325	NB4	blood:	n/a
41	chr2:111996275-111996325	AG09309	skin:	n/a
42	chr2:112124118-112124168	HRPEpiC	eye:	n/a
43	chr2:111996799-111996849	BE2_C	brain:	n/a
44	chr2:111996799-111996849	NHDF-neo	bronchial:	n/a
45	chr2:111996799-111996849	BJ	skin:	n/a
46	chr2:112124380-112124430	HMEC	breast:	n/a
47	chr2:111996799-111996849	AG09319	gingival:	n/a
48	chr2:112124380-112124430	MCF10A-Er-Src	breast:	n/a
49	chr2:112124380-112124430	CMK	blood:	n/a
50	chr2:112124118-112124168	HEK293	kidney:	embryo

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112158086..112161064-chr8:43095226..43096729,2	MCF-7	breast:
2	chr2:111878764..111880387-chr2:112231090..112233888,2	MCF-7	breast:
3	chr2:111877705..111880008-chr2:112211679..112213711,2	MCF-7	breast:
4	chr2:111996763..111999930-chr2:112002314..112005967,4	K562	blood:
5	chr2:112239413..112241217-chr2:112461159..112463413,2	MCF-7	breast:
6	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:
7	chr2:111985051..111989984-chr2:111990013..111994177,5	K562	blood:
8	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
9	chr2:111992422..111994041-chr2:111997666..112000118,2	MCF-7	breast:
10	chr2:111970999..111973382-chr2:112004350..112006635,2	MCF-7	breast:
11	chr2:111990659..111992469-chr2:111994265..111996457,2	K562	blood:
12	chr2:111996763..111999930-chr2:112002314..112005967,4	K562	blood:
13	chr2:111943401..111945501-chr2:111991303..111993728,2	K562	blood:
14	chr2:111878316..111879893-chr2:112101721..112103928,2	MCF-7	breast:
15	chr2:111992422..111994041-chr2:111997666..112000118,2	MCF-7	breast:
16	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:

(count:70 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC108463.1-3	chr2:111997401-111997573	ENSG00000172965.6
2	lnc-AC108463.1-3	chr2:112237746-112237838	ENSG00000172965.6
3	lnc-AC108463.1-3	chr2:112033908-112033997	ENSG00000172965.6
4	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
5	lnc-BCL2L11-5	chr2:112081889-112082063	NONHSAT073637
6	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
7	lnc-AC108463.1-3	chr2:111997379-111997573	ENSG00000172965.6
8	lnc-AC108463.1-3	chr2:112101638-112101675	ENSG00000172965.10
9	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
10	lnc-AC108463.1-3	chr2:112101789-112101814	NONHSAT073639
11	lnc-AC108463.1-4	chr2:112024445-112025050	ENSG00000270190.1
12	lnc-AC108463.1-3	chr2:112187048-112187197	NONHSAT073639
13	lnc-AC108463.1-3	chr2:112187020-112187197	ENSG00000172965.6
14	lnc-AC108463.1-3	chr2:112005007-112005135	ENSG00000172965.6
15	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
16	lnc-BCL2L11-7	chr2:112141383-112141840	NONHSAT147111
17	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
18	lnc-AC108463.1-3	chr2:112227364-112227376	NONHSAT073639
19	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
20	lnc-BCL2L11-7	chr2:112141329-112142569	NONHSAT073641
21	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
22	lnc-BCL2L11-2	chr2:112037444-112037486	XLOC_001624
23	lnc-AC108463.1-3	chr2:111994581-111996624	ENSG00000172965.10
24	lnc-AC108463.1-3	chr2:112227180-112227564	ENSG00000172965.6
25	lnc-AC108463.1-3	chr2:112199085-112199198	ENSG00000172965.6
26	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
27	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
28	lnc-AC108463.1-3	chr2:112186886-112187197	NONHSAT073642
29	lnc-AC108463.1-3	chr2:112005725-112005822	NONHSAT073620
30	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
31	lnc-AC108463.1-3	chr2:112071889-112072139	ENSG00000172965.6
32	lnc-AC108463.1-3	chr2:112125088-112125152	NONHSAT073639
33	lnc-BCL2L11-2	chr2:112043757-112044842	XLOC_001624
34	lnc-AC108463.1-3	chr2:111997379-111997573	NONHSAT073620
35	lnc-AC108463.1-3	chr2:112124591-112125152	NONHSAT073640
36	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
37	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
38	lnc-AC108463.1-3	chr2:112004962-112005137	NONHSAT073620
39	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
40	lnc-AC108463.1-3	chr2:112125064-112125102	ENSG00000172965.10
41	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.10
42	lnc-AC108463.1-4	chr2:112024419-112025062	NONHSAT073632
43	lnc-AC108463.1-3	chr2:112237484-112237638	ENSG00000172965.6
44	lnc-AC108463.1-3	chr2:112108185-112108338	ENSG00000172965.6
45	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
46	lnc-AC108463.1-3	chr2:112227364-112227564	ENSG00000172965.6
47	lnc-BCL2L11-6	chr2:112124594-112124991	NONHSAT073618
48	lnc-BCL2L11-8	chr2:112186899-112187197	NONHSAT073647
49	lnc-AC108463.1-3	chr2:112227095-112227564	ENSG00000172965.6
50	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4435	chr2:112078638-112078659	MIMAT0018951_1

No data

Variant related genes	Relation type
ENSG00000270190	TF binding region
ENSG00000240350	TF binding region
RPS14P4	TF binding region
MIR4435-1HG	TF binding region
ENSG00000229118	TF binding region
ENSG00000223973	TF binding region
MIR4435-1	TF binding region
ENSG00000270190	CpG island
ENSG00000240350	CpG island
RPS14P4	CpG island
MIR4435-1HG	CpG island
ENSG00000229118	CpG island
ENSG00000223973	CpG island
MIR4435-1	CpG island
ENSG00000153094	chromatin interactions
KLHL24	miRNA target sites
ASCC3	miRNA target sites
ITSN2	miRNA target sites

Extended variants
information (count: 6715 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:6715 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541363916	chr2:111993609-111993610	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs17041943	chr2:111993626-111993627	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75458001	chr2:111993649-111993650	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543662260	chr2:111993652-111993653	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563450356	chr2:111993680-111993681	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375831637	chr2:111993753-111993754	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552379843	chr2:111993775-111993776	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186668347	chr2:111993850-111993851	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531219292	chr2:111993919-111993920	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528477434	chr2:111993936-111993937	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548521756	chr2:111994019-111994020	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568428120	chr2:111994114-111994115	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537323365	chr2:111994171-111994172	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550791990	chr2:111994196-111994197	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72837853	chr2:111994228-111994229	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386649180	chr2:111994379-111994380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570698925	chr2:111994380-111994381	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367665492	chr2:111994382-111994383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538769266	chr2:111994392-111994393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147595234	chr2:111994430-111994431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139451516	chr2:111994433-111994434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17041945	chr2:111994461-111994462	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554571458	chr2:111994476-111994477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528966674	chr2:111994480-111994481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574812284	chr2:111994481-111994482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548634642	chr2:111994543-111994544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547380651	chr2:111994557-111994558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113072808	chr2:111994589-111994590	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs111947354	chr2:111994591-111994592	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs149925968	chr2:111994592-111994593	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201493937	chr2:111994593-111994594	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs201618198	chr2:111994594-111994595	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs563515786	chr2:111994610-111994611	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556399843	chr2:111994622-111994623	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577108209	chr2:111994648-111994649	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs185756538	chr2:111994649-111994650	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs559598893	chr2:111994656-111994657	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs528549364	chr2:111994657-111994658	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs190285507	chr2:111994663-111994664	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs561727002	chr2:111994672-111994673	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs531145752	chr2:111994769-111994770	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs550855532	chr2:111994770-111994771	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570758713	chr2:111994777-111994778	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs539648688	chr2:111994784-111994785	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182105363	chr2:111994793-111994794	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs11690428	chr2:111994838-111994839	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs184489404	chr2:111994854-111994855	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534692360	chr2:111994855-111994856	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149675683	chr2:111994868-111994869	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs574476647	chr2:111994877-111994878	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22314128	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
3	chr2:111977600-112011400	Weak transcription	A549	lung
4	chr2:111984000-111994000	Weak transcription	K562	blood
5	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:111986000-111995600	Weak transcription	HepG2	liver
7	chr2:111986200-111993600	Weak transcription	HSMMtube	muscle
8	chr2:111986200-111995200	Weak transcription	NH-A	brain
9	chr2:111986200-111995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:111986200-112004400	Weak transcription	Osteobl	bone
11	chr2:111986400-111995400	Weak transcription	NHLF	lung
12	chr2:111986400-111995800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111986400-112004000	Weak transcription	NHDF-Ad	bronchial
14	chr2:111989200-111993800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:111990000-111995600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:111990000-112004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:111990200-111995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:111991400-111993800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:111991800-111994000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:111991800-111995400	Weak transcription	Dnd41	blood
21	chr2:111992400-111993600	Enhancers	Placenta	Placenta
22	chr2:111992400-111996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:111992600-111994600	Enhancers	HMEC	breast
24	chr2:111992800-111993800	Enhancers	Brain Germinal Matrix	brain
25	chr2:111992800-111994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:111992800-111996800	Enhancers	Esophagus	oesophagus
27	chr2:111993000-111993600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:111993000-111993800	Enhancers	Psoas Muscle	Psoas
29	chr2:111993000-111994000	Enhancers	Adipose Nuclei	Adipose
30	chr2:111993000-111994000	Enhancers	Left Ventricle	heart
31	chr2:111993000-111994000	Enhancers	Right Atrium	heart
32	chr2:111993000-111994400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:111993000-111994400	Enhancers	Right Ventricle	heart
34	chr2:111993000-111994600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:111993200-111993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:111993200-111994000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:111993200-111994000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:111993200-111998000	Strong transcription	HSMM	muscle
39	chr2:111993200-112008200	Weak transcription	Aorta	Aorta
40	chr2:111993200-112008200	Weak transcription	Lung	lung
41	chr2:111993400-111993800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:111993400-111994000	Enhancers	Fetal Heart	heart
43	chr2:111993400-111994000	Flanking Active TSS	NHEK	skin
44	chr2:111993400-111994200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:111993400-111994400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:111993400-111995800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:111993600-111994000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:111993600-111994400	Genic enhancers	HSMMtube	muscle
49	chr2:111993600-112004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:111993600-112004000	Weak transcription	Fetal Muscle Leg	muscle

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