Variant report

Variant	esv3351040
Chromosome Location	chr21:45719074-45721172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:557)
CpG islands
(count:427)
Chromatin interactive
region (count:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
2	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
3	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
4	BACH1	chr21:45719065-45719257	K562	blood:	n/a	n/a
5	BACH1	chr21:45719536-45719733	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
7	BHLHE40	chr21:45718957-45720073	GM12878	blood:	n/a	chr21:45719589-45719605
8	BHLHE40	chr21:45719045-45719870	K562	blood:	n/a	chr21:45719589-45719605
9	BHLHE40	chr21:45719039-45719737	HepG2	liver:	n/a	chr21:45719589-45719605
10	BRCA1	chr21:45719712-45719741	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
12	CEBPB	chr21:45719486-45719625	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
14	CEBPB	chr21:45718935-45719872	GM12878	blood:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
15	CEBPD	chr21:45720206-45720602	HepG2	liver:	n/a	n/a
16	CEBPD	chr21:45719658-45720142	HepG2	liver:	n/a	n/a
17	CHD1	chr21:45719340-45720969	IMR90	lung:	n/a	n/a
18	CHD1	chr21:45720427-45720453	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
20	CHD2	chr21:45719092-45719866	GM12878	blood:	n/a	chr21:45719200-45719207
21	CHD2	chr21:45720290-45720467	GM12878	blood:	n/a	n/a
22	CHD2	chr21:45719421-45719998	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr21:45719375-45719556	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr21:45720316-45720535	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr21:45719556-45719623	K562	blood:	n/a	n/a
26	CHD2	chr21:45720347-45720430	HepG2	liver:	n/a	n/a
27	CHD2	chr21:45720714-45720770	K562	blood:	n/a	n/a
28	CREB1	chr21:45719746-45719993	A549	lung:	n/a	n/a
29	CREB1	chr21:45719347-45720933	HepG2	liver:	n/a	n/a
30	CTCF	chr21:45720791-45720862	GM12891	blood:	n/a	n/a
31	CTCF	chr21:45721060-45721210	GM12874	blood:	n/a	chr21:45721125-45721143
32	CTCF	chr21:45720781-45720843	GM19238	blood:	n/a	n/a
33	CTCF	chr21:45720660-45720810	HMEC	breast:	n/a	n/a
34	CTCF	chr21:45720980-45721130	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr21:45719540-45719690	GM12864	blood:	n/a	chr21:45719570-45719579
36	CTCF	chr21:45721060-45721210	WERI-Rb-1	eye:	n/a	chr21:45721125-45721143
37	CTCF	chr21:45720476-45720551	Spleen_OC	spleen:	n/a	chr21:45720536-45720549
38	CTCF	chr21:45721095-45721175	GM19240	blood:	n/a	chr21:45721125-45721143
39	CTCF	chr21:45721040-45721190	HCPEpiC	choroid plexus:	n/a	chr21:45721125-45721143
40	CTCF	chr21:45720660-45720810	HCFaa	heart:	n/a	n/a
41	CTCF	chr21:45720740-45720890	AG09319	gingival:	n/a	n/a
42	CTCF	chr21:45721037-45721212	GM12891	blood:	n/a	chr21:45721125-45721143
43	CTCF	chr21:45721100-45721250	GM12868	blood:	n/a	chr21:45721125-45721143
44	CTCF	chr21:45719300-45719450	GM12864	blood:	n/a	n/a
45	CTCF	chr21:45721040-45721190	HRPEpiC	eye:	n/a	chr21:45721125-45721143
46	CTCF	chr21:45720740-45720890	NB4	blood:	n/a	n/a
47	CTCF	chr21:45719460-45719610	GM12871	blood:	n/a	chr21:45719570-45719579
48	CTCF	chr21:45720640-45720790	HMF	breast:	n/a	n/a
49	CTCF	chr21:45720780-45720930	SAEC	small airway:	n/a	n/a
50	CTCF	chr21:45721060-45721210	HepG2	liver:	n/a	chr21:45721125-45721143

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45719797-45719847	GM12891	blood:	n/a
2	chr21:45719832-45719882	NH-A	brain:	n/a
3	chr21:45719687-45719737	NHDF-neo	bronchial:	n/a
4	chr21:45719687-45719737	HRCEpiC	kidney:	n/a
5	chr21:45719404-45719454	Hela-S3	cervix:	n/a
6	chr21:45719804-45719854	AoSMC	blood vessel:	n/a
7	chr21:45719687-45719737	PANC-1	pancreas:	n/a
8	chr21:45719797-45719847	U87	brain:	n/a
9	chr21:45719687-45719737	AG09309	skin:	n/a
10	chr21:45719804-45719854	HMEC	breast:	n/a
11	chr21:45720651-45720701	HNPCEpiC	eye:	n/a
12	chr21:45719687-45719737	HMEC	breast:	n/a
13	chr21:45719404-45719454	H1-hESC	embryonic stem cell:	embryo
14	chr21:45719404-45719454	K562	blood:	n/a
15	chr21:45719687-45719737	GM06990	blood:	n/a
16	chr21:45719832-45719882	ECC-1	luminal epithelium:	n/a
17	chr21:45720651-45720701	HEK293	kidney:	embryo
18	chr21:45719818-45719868	SK-N-SH	brain:	n/a
19	chr21:45720651-45720701	SK-N-SH	brain:	n/a
20	chr21:45719404-45719454	RPTEC	kidney:	n/a
21	chr21:45719687-45719737	BE2_C	brain:	n/a
22	chr21:45719797-45719847	HCT-116	colon:	n/a
23	chr21:45719404-45719454	AG09309	skin:	n/a
24	chr21:45719818-45719868	AG04449	skin:	fetal
25	chr21:45719404-45719454	U87	brain:	n/a
26	chr21:45719818-45719868	HCT-116	colon:	n/a
27	chr21:45719818-45719868	LNCaP	prostate:	n/a
28	chr21:45719404-45719454	HCF	heart:	n/a
29	chr21:45719804-45719854	SAEC	small airway:	n/a
30	chr21:45719818-45719868	HEEpiC	esophagus:	n/a
31	chr21:45719818-45719868	AG09309	skin:	n/a
32	chr21:45719404-45719454	GM19239	blood:	n/a
33	chr21:45719818-45719868	GM06990	blood:	n/a
34	chr21:45719818-45719868	HRE	kidney:	n/a
35	chr21:45719687-45719737	HCT-116	colon:	n/a
36	chr21:45720651-45720701	AG04449	skin:	fetal
37	chr21:45719818-45719868	HRCEpiC	kidney:	n/a
38	chr21:45719687-45719737	HAEpiC	amniotic membrane:	n/a
39	chr21:45719832-45719882	Caco-2	colon:	n/a
40	chr21:45719832-45719882	SK-N-SH	brain:	n/a
41	chr21:45719797-45719847	AG09309	skin:	n/a
42	chr21:45719404-45719454	HIPEpiC	eye:	n/a
43	chr21:45720651-45720701	AG09309	skin:	n/a
44	chr21:45719804-45719854	Hela-S3	cervix:	n/a
45	chr21:45720651-45720701	HEEpiC	esophagus:	n/a
46	chr21:45719797-45719847	AG09319	gingival:	n/a
47	chr21:45719804-45719854	A549	lung:	n/a
48	chr21:45719797-45719847	T-47D	breast:	n/a
49	chr21:45719797-45719847	HRPEpiC	eye:	n/a
50	chr21:45719832-45719882	NT2-D1	testis:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
2	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
3	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
4	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
5	chr17:80063984..80064486-chr21:45719909..45720612,2	MCF-7	breast:
6	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
7	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
8	chr20:62669928..62670791-chr21:45719751..45720327,2	Hela-S3	cervix:
9	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
10	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
11	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
12	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
13	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
14	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
15	chr21:45646929..45649762-chr21:45721151..45723519,2	MCF-7	breast:
16	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
17	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
18	chr21:45529641..45531506-chr21:45718091..45719694,2	MCF-7	breast:
19	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
20	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
21	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
22	chr21:45590104..45592825-chr21:45716681..45719133,2	K562	blood:
23	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
24	chr11:833005..833656-chr21:45719773..45720543,2	Hela-S3	cervix:
25	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
26	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
27	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
28	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
29	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
30	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
31	chr21:45644616..45646347-chr21:45720653..45723440,2	MCF-7	breast:
32	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
33	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
34	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIRE-2	chr21:45718898-45719293	expReg_chr21_1765_+

No data

Variant related genes	Relation type
PFKL	TF binding region
PFKL	CpG island
ENSG00000232124	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000196678	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000196700	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000160223	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371609153	chr21:45719080-45719081	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
2	rs534353792	chr21:45719081-45719082	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
3	rs3138692	chr21:45719082-45719083	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
4	rs201667855	chr21:45719112-45719113	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
5	rs552993270	chr21:45719141-45719142	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
6	rs78758429	chr21:45719154-45719155	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
7	rs527730319	chr21:45719201-45719202	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
8	rs552522235	chr21:45719254-45719255	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
9	rs570791876	chr21:45719275-45719276	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
10	rs538100487	chr21:45719363-45719364	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs571410771	chr21:45719381-45719382	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs538687536	chr21:45719416-45719417	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs556413830	chr21:45719455-45719456	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs184055373	chr21:45719476-45719477	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs575714871	chr21:45719477-45719478	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs536972781	chr21:45719539-45719540	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs554990033	chr21:45719558-45719559	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs397866539	chr21:45719573-45719574	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs188886911	chr21:45719576-45719577	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs540278151	chr21:45719591-45719592	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs73368459	chr21:45719630-45719631	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576937677	chr21:45719632-45719633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs544268442	chr21:45719715-45719716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs74665336	chr21:45719731-45719732	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs80091672	chr21:45719732-45719733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs563522534	chr21:45719735-45719736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs530956941	chr21:45719746-45719747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs35158995	chr21:45719753-45719754	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs530647866	chr21:45719760-45719761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs368760324	chr21:45719787-45719788	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs549143655	chr21:45719860-45719861	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs115050977	chr21:45719862-45719863	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs528388939	chr21:45719871-45719872	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs546619495	chr21:45719883-45719884	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs571221486	chr21:45719885-45719886	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs574559202	chr21:45719908-45719909	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs11558849	chr21:45719958-45719959	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs550375523	chr21:45719984-45719985	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs568911482	chr21:45720057-45720058	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs181640012	chr21:45720097-45720098	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
41	rs555142344	chr21:45720168-45720169	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
42	rs552536568	chr21:45720179-45720180	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
43	rs371253111	chr21:45720215-45720216	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs186232709	chr21:45720221-45720222	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
45	rs534182871	chr21:45720262-45720263	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
46	rs535631123	chr21:45720276-45720277	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
47	rs558546692	chr21:45720295-45720296	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs553634465	chr21:45720298-45720299	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs148851131	chr21:45720327-45720328	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
50	rs374839043	chr21:45720396-45720397	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45712000-45719200	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:45713800-45719200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr21:45714600-45719200	Weak transcription	Lung	lung
4	chr21:45715200-45719200	Weak transcription	Gastric	stomach
5	chr21:45715200-45719200	Weak transcription	Right Atrium	heart
6	chr21:45715400-45719200	Weak transcription	Brain Substantia Nigra	brain
7	chr21:45715400-45719200	Weak transcription	Ovary	ovary
8	chr21:45715800-45719200	Weak transcription	Esophagus	oesophagus
9	chr21:45716600-45719200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:45716800-45719200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:45716800-45719200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr21:45717000-45719200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr21:45717000-45719200	Enhancers	Placenta	Placenta
14	chr21:45717200-45719200	Enhancers	HSMMtube	muscle
15	chr21:45717400-45719200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:45717400-45719200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr21:45717400-45719200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr21:45717400-45719200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr21:45717400-45719200	Enhancers	Duodenum Mucosa	Duodenum
20	chr21:45717400-45719200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr21:45717400-45719200	Enhancers	Fetal Intestine Small	intestine
22	chr21:45717600-45719200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr21:45717600-45719200	Weak transcription	Left Ventricle	heart
24	chr21:45717600-45719200	Weak transcription	Right Ventricle	heart
25	chr21:45717800-45719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:45718000-45719200	Enhancers	Primary T cells from cord blood	blood
27	chr21:45718000-45719200	Weak transcription	Brain Angular Gyrus	brain
28	chr21:45718000-45719200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr21:45718000-45719200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr21:45718400-45719200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:45718600-45719200	Enhancers	Fetal Thymus	thymus
32	chr21:45718800-45719200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:45718800-45720800	Active TSS	GM12878-XiMat	blood
34	chr21:45719000-45719200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr21:45719000-45719200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:45719000-45719200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:45719000-45719200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr21:45719000-45719200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:45719000-45719200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:45719000-45719200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr21:45719000-45719200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:45719000-45719200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:45719000-45719200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:45719000-45719200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:45719000-45719200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr21:45719000-45719200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr21:45719000-45719200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:45719000-45719200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:45719000-45719200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:45719000-45719200	Enhancers	Liver	Liver

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