Variant report

Variant	nsv874897
Chromosome Location	chr2:113935407-113944762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:122)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113937945-113938365	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:113937914-113938336	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:113938725-113939017	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:113944290-113944468	HepG2	liver:	n/a	n/a
5	CHD2	chr2:113937938-113938186	HepG2	liver:	n/a	n/a
6	CTCF	chr2:113938098-113938352	K562	blood:	n/a	n/a
7	CTCF	chr2:113938050-113938436	K562	blood:	n/a	n/a
8	CTCF	chr2:113938217-113938333	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr2:113938063-113938387	HepG2	liver:	n/a	n/a
10	CTCF	chr2:113938244-113938266	GM12891	blood:	n/a	n/a
11	CTCF	chr2:113938140-113938290	Caco-2	colon:	n/a	n/a
12	CTCF	chr2:113938160-113938310	HepG2	liver:	n/a	n/a
13	CTCF	chr2:113938160-113938310	Caco-2	colon:	n/a	n/a
14	CTCF	chr2:113938150-113938365	K562	blood:	n/a	n/a
15	CTCF	chr2:113938160-113938345	K562	blood:	n/a	n/a
16	CTCF	chr2:113938204-113938305	GM19238	blood:	n/a	n/a
17	CTCF	chr2:113938089-113938432	HepG2	liver:	n/a	n/a
18	CTCF	chr2:113938141-113938343	HepG2	liver:	n/a	n/a
19	CTCF	chr2:113938387-113938460	GM20000	blood:	n/a	n/a
20	CTCF	chr2:113938194-113938341	GM19239	blood:	n/a	n/a
21	CTCF	chr2:113938214-113938253	Lung_OC	lung:	n/a	n/a
22	CTCF	chr2:113938086-113938357	GM12878	blood:	n/a	n/a
23	E2F4	chr2:113941198-113941199	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr2:113936578-113936740	GM12878	blood:	n/a	n/a
25	ELF1	chr2:113937975-113938380	K562	blood:	n/a	n/a
26	ELF1	chr2:113937854-113938386	HepG2	liver:	n/a	n/a
27	ELF1	chr2:113937911-113938301	GM12878	blood:	n/a	n/a
28	ELF1	chr2:113937990-113938359	HepG2	liver:	n/a	n/a
29	EP300	chr2:113936961-113937021	GM12878	blood:	n/a	n/a
30	EP300	chr2:113937996-113938246	HepG2	liver:	n/a	n/a
31	EP300	chr2:113937856-113938463	HepG2	liver:	n/a	n/a
32	FOSL2	chr2:113937699-113938456	HepG2	liver:	n/a	chr2:113938195-113938206
33	FOSL2	chr2:113937882-113938433	HepG2	liver:	n/a	chr2:113938195-113938206
34	FOXA1	chr2:113938646-113939133	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:113937752-113938438	HepG2	liver:	n/a	n/a
36	GATA1	chr2:113938818-113939409	PBDE	blood:	n/a	chr2:113939059-113939076 chr2:113939067-113939074 chr2:113939065-113939081 chr2:113939067-113939079
37	HDAC2	chr2:113937882-113938388	HepG2	liver:	n/a	n/a
38	HEY1	chr2:113937806-113938485	HepG2	liver:	n/a	n/a
39	HNF4A	chr2:113937959-113938345	HepG2	liver:	n/a	n/a
40	HNF4A	chr2:113937923-113938380	HepG2	liver:	n/a	n/a
41	HNF4A	chr2:113937735-113938371	HepG2	liver:	n/a	n/a
42	HNF4G	chr2:113937824-113938368	HepG2	liver:	n/a	n/a
43	HNF4G	chr2:113937829-113938505	HepG2	liver:	n/a	n/a
44	JUN	chr2:113938035-113938281	HepG2	liver:	n/a	n/a
45	JUND	chr2:113937975-113938355	HepG2	liver:	n/a	chr2:113938194-113938205
46	JUND	chr2:113937989-113938389	HepG2	liver:	n/a	chr2:113938194-113938205
47	JUND	chr2:113936596-113936687	K562	blood:	n/a	chr2:113936659-113936668 chr2:113936658-113936668 chr2:113936658-113936667 chr2:113936657-113936668 chr2:113936657-113936669
48	JUND	chr2:113938004-113938403	HepG2	liver:	n/a	chr2:113938194-113938205
49	JUND	chr2:113936527-113936743	HepG2	liver:	n/a	chr2:113936659-113936668 chr2:113936658-113936668 chr2:113936658-113936667 chr2:113936657-113936668 chr2:113936657-113936669
50	JUND	chr2:113938123-113938351	K562	blood:	n/a	chr2:113938194-113938205

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113941371-113941421	Caco-2	colon:	n/a
2	chr2:113942204-113942254	GM06990	blood:	n/a
3	chr2:113942204-113942254	H1-hESC	embryonic stem cell:	embryo
4	chr2:113941371-113941421	BJ	skin:	n/a
5	chr2:113942204-113942254	AG04449	skin:	fetal
6	chr2:113941371-113941421	HEK293	kidney:	embryo
7	chr2:113942204-113942254	ProgFib	skin:	n/a
8	chr2:113941371-113941421	HCPEpiC	choroid plexus:	n/a
9	chr2:113942204-113942254	HRPEpiC	eye:	n/a
10	chr2:113942204-113942254	HEEpiC	esophagus:	n/a
11	chr2:113942204-113942254	ovcar-3	ovarian:	n/a
12	chr2:113941371-113941421	NT2-D1	testis:	n/a
13	chr2:113942204-113942254	HCM	heart:	n/a
14	chr2:113941371-113941421	CMK	blood:	n/a
15	chr2:113942204-113942254	GM19239	blood:	n/a
16	chr2:113942204-113942254	HIPEpiC	eye:	n/a
17	chr2:113942204-113942254	HCT-116	colon:	n/a
18	chr2:113942204-113942254	SKMC	muscle:	n/a
19	chr2:113942204-113942254	MCF10A-Er-Src	breast:	n/a
20	chr2:113941371-113941421	NHBE	bronchial:	n/a
21	chr2:113941371-113941421	SK-N-MC	brain:	n/a
22	chr2:113941371-113941421	T-47D	breast:	n/a
23	chr2:113942204-113942254	A549	lung:	n/a
24	chr2:113942204-113942254	MCF-7	breast:	n/a
25	chr2:113941371-113941421	GM12878	blood:	n/a
26	chr2:113941371-113941421	HAEpiC	amniotic membrane:	n/a
27	chr2:113941371-113941421	RPTEC	kidney:	n/a
28	chr2:113941371-113941421	AG10803	skin:	n/a
29	chr2:113941371-113941421	HCT-116	colon:	n/a
30	chr2:113942204-113942254	AG10803	skin:	n/a
31	chr2:113941371-113941421	HIPEpiC	eye:	n/a
32	chr2:113942204-113942254	Hela-S3	cervix:	n/a
33	chr2:113942204-113942254	HL-60	blood:	n/a
34	chr2:113941371-113941421	HEEpiC	esophagus:	n/a
35	chr2:113941371-113941421	HRCEpiC	kidney:	n/a
36	chr2:113942204-113942254	NB4	blood:	n/a
37	chr2:113942204-113942254	GM12891	blood:	n/a
38	chr2:113941371-113941421	NH-A	brain:	n/a
39	chr2:113941371-113941421	PFSK-1	brain:	n/a
40	chr2:113941371-113941421	HCM	heart:	n/a
41	chr2:113942204-113942254	PFSK-1	brain:	n/a
42	chr2:113942204-113942254	SK-N-SH_RA	brain:	n/a
43	chr2:113942204-113942254	HRCEpiC	kidney:	n/a
44	chr2:113941371-113941421	AoSMC	blood vessel:	n/a
45	chr2:113941371-113941421	NHDF-neo	bronchial:	n/a
46	chr2:113941371-113941421	GM19239	blood:	n/a
47	chr2:113941371-113941421	LNCaP	prostate:	n/a
48	chr2:113942204-113942254	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:113942204-113942254	AG09319	gingival:	n/a
50	chr2:113941371-113941421	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:113944198..113947066-chr2:113955265..113958109,2	MCF-7	breast:
2	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
3	chr2:113913253..113915843-chr2:113936341..113937921,2	MCF-7	breast:
4	chr2:113914767..113917449-chr2:113937885..113940587,3	MCF-7	breast:
5	chr2:113935660..113937714-chr2:113950239..113952545,2	K562	blood:
6	chr2:113875548..113877377-chr2:113943728..113946005,2	MCF-7	breast:
7	chr2:113943577..113946396-chr2:113947110..113948817,2	MCF-7	breast:
8	chr2:113914770..113916591-chr2:113941477..113943871,2	MCF-7	breast:
9	chr2:113916801..113918833-chr2:113943214..113944985,2	MCF-7	breast:
10	chr2:113933965..113936589-chr2:113937925..113940404,2	MCF-7	breast:
11	chr2:113839317..113841682-chr2:113938699..113940328,2	K562	blood:
12	chr2:113943264..113945628-chr2:113949034..113951386,2	K562	blood:
13	chr2:113939010..113941209-chr2:113958366..113960535,2	K562	blood:
14	chr12:66218804..66221385-chr2:113942037..113943600,2	MCF-7	breast:
15	chr2:113933965..113936589-chr2:113937925..113940404,2	MCF-7	breast:
16	chr2:113941477..113944460-chr2:113951684..113956081,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1RN-3	chr2:113942942-113943327	NONHSAT073749
2	lnc-IL1RN-3	chr2:113942534-113942650	NONHSAT073749
3	lnc-IL1RN-3	chr2:113942707-113943178	expReg_chr2_8717_+

No data

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000234174	TF binding region
PSD4	CpG island
ENSG00000234174	CpG island
ENSG00000241749	chromatin interactions
ENSG00000149948	chromatin interactions
ENSG00000136689	chromatin interactions
ENSG00000125637	chromatin interactions

Extended variants
information (count: 407 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34949856	chr2:113935407-113935408	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34337149	chr2:113935434-113935435	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543598246	chr2:113935476-113935477	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372246896	chr2:113935513-113935514	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs45549541	chr2:113935547-113935548	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13023682	chr2:113935663-113935664	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546149756	chr2:113935665-113935666	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13400502	chr2:113935721-113935722	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185520985	chr2:113935727-113935728	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547872704	chr2:113935733-113935734	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567754031	chr2:113935737-113935738	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138281488	chr2:113935789-113935790	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79746791	chr2:113935802-113935803	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550341128	chr2:113935806-113935807	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs17043069	chr2:113935807-113935808	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572592785	chr2:113935844-113935845	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538917148	chr2:113935926-113935927	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190279971	chr2:113935930-113935931	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564441975	chr2:113935974-113935975	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs45610832	chr2:113935987-113935988	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs45596742	chr2:113936010-113936011	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs45594939	chr2:113936023-113936024	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181792310	chr2:113936030-113936031	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35906140	chr2:113936032-113936033	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12711765	chr2:113936036-113936037	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs76223611	chr2:113936095-113936096	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143291794	chr2:113936096-113936097	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs45491191	chr2:113936106-113936107	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs45512693	chr2:113936160-113936161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148314800	chr2:113936188-113936189	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186961006	chr2:113936228-113936229	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192193934	chr2:113936263-113936264	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561167244	chr2:113936323-113936324	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530194243	chr2:113936384-113936385	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184030365	chr2:113936447-113936448	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374233730	chr2:113936457-113936458	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs45576937	chr2:113936468-113936469	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563871437	chr2:113936494-113936495	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568234206	chr2:113936500-113936501	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74532573	chr2:113936528-113936529	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552404958	chr2:113936530-113936531	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534023299	chr2:113936565-113936566	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187810652	chr2:113936674-113936675	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535023878	chr2:113936678-113936679	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189593456	chr2:113936684-113936685	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs182205620	chr2:113936686-113936687	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146301002	chr2:113936782-113936783	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533233270	chr2:113936797-113936798	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577073474	chr2:113936798-113936799	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs45469991	chr2:113936887-113936888	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	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
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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113923000-113956000	Weak transcription	HMEC	breast
4	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:113927600-113936200	Weak transcription	NHEK	skin
6	chr2:113928000-113935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113930800-113937800	Weak transcription	Pancreas	Pancrea
8	chr2:113931400-113936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113931400-113937800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:113932000-113937600	Weak transcription	Gastric	stomach
11	chr2:113932400-113937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:113932400-113939400	Weak transcription	Fetal Stomach	stomach
13	chr2:113932400-113939600	Enhancers	Placenta	Placenta
14	chr2:113932800-113935800	Weak transcription	Stomach Mucosa	stomach
15	chr2:113932800-113937600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:113933000-113935600	Enhancers	Spleen	Spleen
17	chr2:113933000-113938000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:113933000-113938800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:113933200-113935600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr2:113933400-113937800	Weak transcription	Small Intestine	intestine
21	chr2:113933800-113936800	Weak transcription	Liver	Liver
22	chr2:113934000-113936800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:113934000-113937800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:113934200-113936000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113934200-113939000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:113934400-113937600	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:113934400-113939600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:113934400-113940000	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:113934600-113936600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:113934600-113937600	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr2:113934600-113937800	Genic enhancers	Primary B cells from cord blood	blood
35	chr2:113934600-113939000	Weak transcription	Colonic Mucosa	Colon
36	chr2:113934600-113939000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:113934600-113940800	Genic enhancers	Fetal Thymus	thymus
38	chr2:113934600-113941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:113934800-113936000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:113934800-113936200	Weak transcription	Esophagus	oesophagus
42	chr2:113934800-113936200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:113934800-113936200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:113934800-113936600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:113934800-113938600	Weak transcription	Fetal Lung	lung
46	chr2:113934800-113938800	Weak transcription	Lung	lung
47	chr2:113934800-113939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:113934800-113939000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:113934800-113939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:113934800-113939800	Genic enhancers	Thymus	Thymus

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