Variant report

Variant	esv3326927
Chromosome Location	chr21:47061524-47065022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:732)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47063532-47063638	K562	blood:	n/a	n/a
2	BACH1	chr21:47064424-47064488	K562	blood:	n/a	n/a
3	BACH1	chr21:47064224-47064564	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr21:47062063-47063101	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr21:47062639-47062859	GM12878	blood:	n/a	n/a
6	BRCA1	chr21:47062692-47062704	GM12878	blood:	n/a	n/a
7	CCNT2	chr21:47062866-47063144	K562	blood:	n/a	n/a
8	CCNT2	chr21:47063404-47064032	K562	blood:	n/a	chr21:47063803-47063812
9	CHD2	chr21:47063317-47063539	K562	blood:	n/a	n/a
10	CHD2	chr21:47062590-47062640	GM12878	blood:	n/a	chr21:47062630-47062640
11	CHD2	chr21:47063369-47063701	GM12878	blood:	n/a	n/a
12	CREB1	chr21:47063141-47063713	GM12878	blood:	n/a	n/a
13	CREB1	chr21:47063179-47063824	A549	lung:	n/a	n/a
14	CREB1	chr21:47062886-47063544	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr21:47061600-47061750	GM12866	blood:	n/a	n/a
16	CTCF	chr21:47061640-47061790	AG09319	gingival:	n/a	n/a
17	E2F4	chr21:47062960-47063636	MCF10A-Er-Src	breast:	n/a	chr21:47063497-47063507
18	E2F6	chr21:47063410-47063796	K562	blood:	n/a	chr21:47063497-47063507
19	E2F6	chr21:47063407-47063746	H1-hESC	embryonic stem cell:	n/a	chr21:47063497-47063507
20	E2F6	chr21:47063292-47063629	H1-hESC	embryonic stem cell:	n/a	chr21:47063497-47063507
21	E2F6	chr21:47063341-47063761	K562	blood:	n/a	chr21:47063497-47063507
22	EGR1	chr21:47062866-47063136	K562	blood:	n/a	chr21:47062885-47062895 chr21:47062900-47062910
23	EGR1	chr21:47063183-47063801	K562	blood:	n/a	n/a
24	EGR1	chr21:47062880-47063091	K562	blood:	n/a	chr21:47062885-47062895 chr21:47062900-47062910
25	EGR1	chr21:47063180-47063791	K562	blood:	n/a	n/a
26	ELF1	chr21:47063562-47063886	GM12878	blood:	n/a	chr21:47063791-47063803
27	ELF1	chr21:47063389-47063682	K562	blood:	n/a	n/a
28	FOS	chr21:47063320-47063664	K562	blood:	n/a	n/a
29	GABPA	chr21:47062639-47062871	H1-hESC	embryonic stem cell:	n/a	chr21:47062664-47062673
30	GABPA	chr21:47062035-47062238	H1-hESC	embryonic stem cell:	n/a	chr21:47062080-47062094 chr21:47062186-47062195
31	HA-E2F1	chr21:47064070-47064690	MCF-7	breast:	n/a	n/a
32	HA-E2F1	chr21:47062328-47062651	MCF-7	breast:	n/a	chr21:47062609-47062619
33	HCFC1	chr21:47063052-47063079	K562	blood:	n/a	n/a
34	HMGN3	chr21:47063443-47063834	K562	blood:	n/a	n/a
35	IRF1	chr21:47062815-47063730	K562	blood:	n/a	chr21:47062896-47062910
36	MAX	chr21:47064106-47064466	K562	blood:	n/a	chr21:47064383-47064390
37	MAX	chr21:47064277-47064530	H1-hESC	embryonic stem cell:	n/a	chr21:47064383-47064390
38	MAX	chr21:47063395-47063762	K562	blood:	n/a	n/a
39	MAX	chr21:47062931-47063158	K562	blood:	n/a	n/a
40	MAX	chr21:47063401-47063825	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr21:47063500-47063617	K562	blood:	n/a	n/a
42	MAX	chr21:47064141-47064383	GM12878	blood:	n/a	n/a
43	MAZ	chr21:47062447-47063794	GM12878	blood:	n/a	chr21:47062467-47062477
44	MAZ	chr21:47062897-47063783	K562	blood:	n/a	n/a
45	MAZ	chr21:47062346-47064616	IMR90	lung:	n/a	chr21:47064383-47064390 chr21:47062467-47062477
46	MAZ	chr21:47064032-47064140	GM12878	blood:	n/a	n/a
47	MXI1	chr21:47063529-47063702	GM12878	blood:	n/a	n/a
48	MXI1	chr21:47062859-47066275	SK-N-SH	brain:	n/a	n/a
49	MXI1	chr21:47064275-47064513	GM12878	blood:	n/a	n/a
50	MYC	chr21:47062422-47062465	MCF-7	breast:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47063665-47063715	AG04449	skin:	fetal
2	chr21:47062264-47062314	IMR90	lung:	fetal
3	chr21:47062264-47062314	HIPEpiC	eye:	n/a
4	chr21:47064129-47064179	ovcar-3	ovarian:	n/a
5	chr21:47063028-47063078	HRE	kidney:	n/a
6	chr21:47064462-47064512	NHBE	bronchial:	n/a
7	chr21:47062279-47062329	PrEC	prostate:	n/a
8	chr21:47064129-47064179	BE2_C	brain:	n/a
9	chr21:47063285-47063335	MCF10A-Er-Src	breast:	n/a
10	chr21:47063285-47063335	AG10803	skin:	n/a
11	chr21:47062264-47062314	PrEC	prostate:	n/a
12	chr21:47062953-47063003	MCF-7	breast:	n/a
13	chr21:47063285-47063335	AoSMC	blood vessel:	n/a
14	chr21:47063408-47063458	ProgFib	skin:	n/a
15	chr21:47064462-47064512	AG10803	skin:	n/a
16	chr21:47062264-47062314	HCT-116	colon:	n/a
17	chr21:47064129-47064179	HL-60	blood:	n/a
18	chr21:47063665-47063715	HCF	heart:	n/a
19	chr21:47063408-47063458	HAEpiC	amniotic membrane:	n/a
20	chr21:47063665-47063715	H1-hESC	embryonic stem cell:	embryo
21	chr21:47064307-47064357	HEK293	kidney:	embryo
22	chr21:47064079-47064129	AG10803	skin:	n/a
23	chr21:47064462-47064512	Caco-2	colon:	n/a
24	chr21:47063028-47063078	HAEpiC	amniotic membrane:	n/a
25	chr21:47062264-47062314	HCPEpiC	choroid plexus:	n/a
26	chr21:47063408-47063458	BJ	skin:	n/a
27	chr21:47062565-47062615	PFSK-1	brain:	n/a
28	chr21:47062953-47063003	SAEC	small airway:	n/a
29	chr21:47064079-47064129	GM19239	blood:	n/a
30	chr21:47064307-47064357	AG10803	skin:	n/a
31	chr21:47064462-47064512	AoSMC	blood vessel:	n/a
32	chr21:47062279-47062329	HNPCEpiC	eye:	n/a
33	chr21:47064462-47064512	Hela-S3	cervix:	n/a
34	chr21:47063285-47063335	RPTEC	kidney:	n/a
35	chr21:47062264-47062314	RPTEC	kidney:	n/a
36	chr21:47063408-47063458	HIPEpiC	eye:	n/a
37	chr21:47063028-47063078	GM12878	blood:	n/a
38	chr21:47063028-47063078	HNPCEpiC	eye:	n/a
39	chr21:47062953-47063003	HAEpiC	amniotic membrane:	n/a
40	chr21:47064129-47064179	LNCaP	prostate:	n/a
41	chr21:47062953-47063003	HNPCEpiC	eye:	n/a
42	chr21:47064307-47064357	H1-hESC	embryonic stem cell:	embryo
43	chr21:47063408-47063458	AG10803	skin:	n/a
44	chr21:47063285-47063335	MCF-7	breast:	n/a
45	chr21:47063665-47063715	SKMC	muscle:	n/a
46	chr21:47062565-47062615	Jurkat	blood:	n/a
47	chr21:47063408-47063458	HMEC	breast:	n/a
48	chr21:47064307-47064357	Hepatocyte	liver:	n/a
49	chr21:47063285-47063335	Hepatocyte	liver:	n/a
50	chr21:47063285-47063335	Hela-S3	cervix:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47012314..47016239-chr21:47061189..47064828,5	K562	blood:
2	chr21:47061104..47062756-chr21:47743383..47745371,2	MCF-7	breast:
3	chr21:47064637..47066305-chr21:47070302..47073219,2	K562	blood:
4	chr21:46963704..46966676-chr21:47062691..47065405,2	MCF-7	breast:
5	chr21:47060499..47063225-chr21:47086755..47088271,2	MCF-7	breast:
6	chr21:46961035..46963239-chr21:47061163..47064234,4	MCF-7	breast:
7	chr21:46960927..46963359-chr21:47063243..47066000,2	K562	blood:
8	chr21:47039810..47042625-chr21:47060618..47063331,3	MCF-7	breast:
9	chr21:47058472..47062802-chr21:47073375..47076804,3	MCF-7	breast:
10	chr21:47035998..47037896-chr21:47060266..47063425,3	MCF-7	breast:
11	chr21:47061926..47064777-chr21:47168199..47170677,2	MCF-7	breast:
12	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-3	chr21:47063608-47063782	NONHSAT082981
2	lnc-COL6A1-3	chr21:47063624-47063782	NONHSAT082982

No data

Variant related genes	Relation type
PCBP3	TF binding region
PCBP3	CpG island
ENSG00000160298	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000183570	chromatin interactions
ENSG00000233922	chromatin interactions
ENSG00000160299	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374452316	chr21:47061534-47061535	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs540045292	chr21:47061542-47061543	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564725549	chr21:47061592-47061593	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs183454518	chr21:47061618-47061619	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs188557359	chr21:47061699-47061700	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs113457833	chr21:47061761-47061762	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs563736470	chr21:47061765-47061766	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs530824375	chr21:47061780-47061781	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs549329607	chr21:47061781-47061782	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561236683	chr21:47061798-47061799	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs367711824	chr21:47061822-47061823	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs73376613	chr21:47061846-47061847	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547262865	chr21:47061848-47061849	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs551675360	chr21:47061869-47061870	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs571481722	chr21:47061882-47061883	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs75415445	chr21:47061901-47061902	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs200276451	chr21:47061915-47061916	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs551010094	chr21:47061916-47061917	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200139775	chr21:47061917-47061918	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs71185161	chr21:47061919-47061920	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs371267591	chr21:47061920-47061921	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs569507041	chr21:47062000-47062001	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs535875784	chr21:47062002-47062003	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs554507482	chr21:47062025-47062026	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs572640125	chr21:47062127-47062128	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs533636153	chr21:47062131-47062132	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs370349058	chr21:47062218-47062219	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs576612809	chr21:47062238-47062239	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs534129056	chr21:47062332-47062333	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs562660734	chr21:47062387-47062388	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs574636595	chr21:47062433-47062434	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs542697729	chr21:47062469-47062470	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs561263183	chr21:47062524-47062525	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs528625806	chr21:47062585-47062586	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs9977301	chr21:47062613-47062614	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs8130662	chr21:47062684-47062685	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs12152003	chr21:47062707-47062708	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs8132156	chr21:47062729-47062730	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569458135	chr21:47062822-47062823	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs536940087	chr21:47062841-47062842	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368216640	chr21:47062882-47062883	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547920797	chr21:47063021-47063022	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112980369	chr21:47063054-47063055	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs34019536	chr21:47063121-47063122	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9980626	chr21:47063150-47063151	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs576500132	chr21:47063151-47063152	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs113748115	chr21:47063172-47063173	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs9977848	chr21:47063242-47063243	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs556315020	chr21:47063341-47063342	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs574691921	chr21:47063433-47063434	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47056400-47063600	Weak transcription	K562	blood
2	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
3	chr21:47058800-47061800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:47058800-47062000	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:47058800-47062200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr21:47059000-47062000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr21:47059200-47062000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr21:47059200-47062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:47059400-47062000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr21:47059400-47062400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr21:47059400-47062400	Enhancers	Spleen	Spleen
12	chr21:47059800-47061600	Enhancers	Colonic Mucosa	Colon
13	chr21:47059800-47061800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47059800-47062000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr21:47059800-47062400	Enhancers	Primary B cells from cord blood	blood
16	chr21:47060200-47061600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:47060200-47061600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr21:47060200-47061800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr21:47060200-47062000	Bivalent Enhancer	Placenta	Placenta
20	chr21:47060200-47062200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr21:47060200-47062400	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr21:47060400-47061800	Enhancers	NHEK	skin
23	chr21:47060400-47062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:47060400-47062400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr21:47060600-47061600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:47060600-47061600	Weak transcription	Gastric	stomach
27	chr21:47060600-47061600	Weak transcription	Lung	lung
28	chr21:47060600-47061800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:47060600-47062000	Weak transcription	Dnd41	blood
30	chr21:47060600-47062200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:47060600-47062400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr21:47060600-47062800	Enhancers	Primary T cells from cord blood	blood
33	chr21:47060800-47061600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr21:47060800-47061600	Weak transcription	Small Intestine	intestine
35	chr21:47060800-47061600	Enhancers	NHDF-Ad	bronchial
36	chr21:47060800-47062000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr21:47060800-47062000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:47060800-47063600	Weak transcription	HSMMtube	muscle
39	chr21:47060800-47064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr21:47061000-47061600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:47061000-47061600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr21:47061000-47062400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr21:47061000-47062600	Enhancers	GM12878-XiMat	blood
44	chr21:47061200-47061800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr21:47061200-47062000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:47061200-47062000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr21:47061200-47062400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:47061200-47062400	Weak transcription	HSMM	muscle
49	chr21:47061200-47064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:47061400-47061600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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