Variant report

Variant	esv3338089
Chromosome Location	chr21:47061324-47064672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:794)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 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	BATF	chr21:47061144-47061475	GM12878	blood:	n/a	n/a
6	BATF	chr21:47061123-47061436	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47061076-47061349	GM12878	blood:	n/a	chr21:47061125-47061141
8	BHLHE40	chr21:47062639-47062859	GM12878	blood:	n/a	n/a
9	BRCA1	chr21:47062692-47062704	GM12878	blood:	n/a	n/a
10	CCNT2	chr21:47063404-47064032	K562	blood:	n/a	chr21:47063803-47063812
11	CCNT2	chr21:47062866-47063144	K562	blood:	n/a	n/a
12	CHD1	chr21:47061045-47061484	GM12878	blood:	n/a	n/a
13	CHD2	chr21:47063369-47063701	GM12878	blood:	n/a	n/a
14	CHD2	chr21:47063317-47063539	K562	blood:	n/a	n/a
15	CHD2	chr21:47061034-47061432	GM12878	blood:	n/a	n/a
16	CHD2	chr21:47062590-47062640	GM12878	blood:	n/a	chr21:47062630-47062640
17	CREB1	chr21:47063141-47063713	GM12878	blood:	n/a	n/a
18	CREB1	chr21:47062886-47063544	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr21:47063179-47063824	A549	lung:	n/a	n/a
20	CTCF	chr21:47060959-47061343	GM12878	blood:	n/a	n/a
21	CTCF	chr21:47061640-47061790	AG09319	gingival:	n/a	n/a
22	CTCF	chr21:47061600-47061750	GM12866	blood:	n/a	n/a
23	E2F4	chr21:47062960-47063636	MCF10A-Er-Src	breast:	n/a	chr21:47063497-47063507
24	E2F6	chr21:47063292-47063629	H1-hESC	embryonic stem cell:	n/a	chr21:47063497-47063507
25	E2F6	chr21:47063407-47063746	H1-hESC	embryonic stem cell:	n/a	chr21:47063497-47063507
26	E2F6	chr21:47063341-47063761	K562	blood:	n/a	chr21:47063497-47063507
27	E2F6	chr21:47063410-47063796	K562	blood:	n/a	chr21:47063497-47063507
28	EBF1	chr21:47061018-47061441	GM12878	blood:	n/a	n/a
29	EBF1	chr21:47060971-47061404	GM12878	blood:	n/a	n/a
30	EGR1	chr21:47062866-47063136	K562	blood:	n/a	chr21:47062885-47062895 chr21:47062900-47062910
31	EGR1	chr21:47063183-47063801	K562	blood:	n/a	n/a
32	EGR1	chr21:47062880-47063091	K562	blood:	n/a	chr21:47062885-47062895 chr21:47062900-47062910
33	EGR1	chr21:47063180-47063791	K562	blood:	n/a	n/a
34	ELF1	chr21:47063389-47063682	K562	blood:	n/a	n/a
35	ELF1	chr21:47063562-47063886	GM12878	blood:	n/a	chr21:47063791-47063803
36	EP300	chr21:47061049-47061390	GM12878	blood:	n/a	n/a
37	EP300	chr21:47060351-47061457	GM12878	blood:	n/a	chr21:47060415-47060431
38	FOS	chr21:47063320-47063664	K562	blood:	n/a	n/a
39	GABPA	chr21:47062639-47062871	H1-hESC	embryonic stem cell:	n/a	chr21:47062664-47062673
40	GABPA	chr21:47062035-47062238	H1-hESC	embryonic stem cell:	n/a	chr21:47062080-47062094 chr21:47062186-47062195
41	HA-E2F1	chr21:47062328-47062651	MCF-7	breast:	n/a	chr21:47062609-47062619
42	HA-E2F1	chr21:47064070-47064690	MCF-7	breast:	n/a	n/a
43	HCFC1	chr21:47063052-47063079	K562	blood:	n/a	n/a
44	HMGN3	chr21:47063443-47063834	K562	blood:	n/a	n/a
45	IRF1	chr21:47062815-47063730	K562	blood:	n/a	chr21:47062896-47062910
46	MAX	chr21:47062931-47063158	K562	blood:	n/a	n/a
47	MAX	chr21:47064106-47064466	K562	blood:	n/a	chr21:47064383-47064390
48	MAX	chr21:47060762-47061392	MCF-7	breast:	n/a	n/a
49	MAX	chr21:47064277-47064530	H1-hESC	embryonic stem cell:	n/a	chr21:47064383-47064390
50	MAX	chr21:47060962-47061369	GM12878	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47064129-47064179	PANC-1	pancreas:	n/a
2	chr21:47064129-47064179	PANC-1	pancreas:	n/a
3	chr21:47063285-47063335	HMEC	breast:	n/a
4	chr21:47062279-47062329	HNPCEpiC	eye:	n/a
5	chr21:47064129-47064179	GM19239	blood:	n/a
6	chr21:47062264-47062314	BE2_C	brain:	n/a
7	chr21:47063285-47063335	LNCaP	prostate:	n/a
8	chr21:47064129-47064179	NHBE	bronchial:	n/a
9	chr21:47063028-47063078	PFSK-1	brain:	n/a
10	chr21:47064462-47064512	HCM	heart:	n/a
11	chr21:47062565-47062615	SKMC	muscle:	n/a
12	chr21:47061442-47061492	HNPCEpiC	eye:	n/a
13	chr21:47064079-47064129	ProgFib	skin:	n/a
14	chr21:47062264-47062314	AG10803	skin:	n/a
15	chr21:47064129-47064179	A549	lung:	n/a
16	chr21:47062953-47063003	SAEC	small airway:	n/a
17	chr21:47063285-47063335	SK-N-SH_RA	brain:	n/a
18	chr21:47062279-47062329	T-47D	breast:	n/a
19	chr21:47062279-47062329	RPTEC	kidney:	n/a
20	chr21:47062565-47062615	HRPEpiC	eye:	n/a
21	chr21:47063408-47063458	BE2_C	brain:	n/a
22	chr21:47062565-47062615	GM19239	blood:	n/a
23	chr21:47062953-47063003	CMK	blood:	n/a
24	chr21:47062264-47062314	HUVEC	blood vessel:	n/a
25	chr21:47061442-47061492	SAEC	small airway:	n/a
26	chr21:47062953-47063003	ProgFib	skin:	n/a
27	chr21:47062264-47062314	AG04450	lung:	fetal
28	chr21:47063285-47063335	NHBE	bronchial:	n/a
29	chr21:47063665-47063715	AoSMC	blood vessel:	n/a
30	chr21:47061442-47061492	Caco-2	colon:	n/a
31	chr21:47064079-47064129	NB4	blood:	n/a
32	chr21:47063665-47063715	GM19239	blood:	n/a
33	chr21:47063285-47063335	BE2_C	brain:	n/a
34	chr21:47064129-47064179	Jurkat	blood:	n/a
35	chr21:47061442-47061492	HCT-116	colon:	n/a
36	chr21:47062953-47063003	AG09309	skin:	n/a
37	chr21:47063028-47063078	HNPCEpiC	eye:	n/a
38	chr21:47063285-47063335	HCPEpiC	choroid plexus:	n/a
39	chr21:47062953-47063003	MCF-7	breast:	n/a
40	chr21:47062279-47062329	AG04449	skin:	fetal
41	chr21:47063285-47063335	HNPCEpiC	eye:	n/a
42	chr21:47064129-47064179	AoSMC	blood vessel:	n/a
43	chr21:47063285-47063335	T-47D	breast:	n/a
44	chr21:47062264-47062314	HCF	heart:	n/a
45	chr21:47063028-47063078	MCF-7	breast:	n/a
46	chr21:47062279-47062329	HRPEpiC	eye:	n/a
47	chr21:47062565-47062615	HPAEpiC	pulmonary alveolar:	n/a
48	chr21:47064079-47064129	HCT-116	colon:	n/a
49	chr21:47064129-47064179	Caco-2	colon:	n/a
50	chr21:47064307-47064357	HCF	heart:	n/a

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

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

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

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

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79891951	chr21:47061346-47061347	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs573753437	chr21:47061392-47061393	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs371318097	chr21:47061458-47061459	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs575119498	chr21:47061470-47061471	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs542576434	chr21:47061487-47061488	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs190094528	chr21:47061523-47061524	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	rs547920797	chr21:47063021-47063022	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	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
50	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

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:462 , 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	chr21:47056600-47061400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
4	chr21:47056800-47061400	Enhancers	Thymus	Thymus
5	chr21:47057200-47061400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47058000-47061400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:47058800-47061800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:47058800-47062000	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:47058800-47062200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr21:47059000-47062000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:47059200-47062000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr21:47059200-47062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47059400-47062000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr21:47059400-47062400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr21:47059400-47062400	Enhancers	Spleen	Spleen
16	chr21:47059600-47061400	Enhancers	Duodenum Mucosa	Duodenum
17	chr21:47059600-47061400	Enhancers	Fetal Thymus	thymus
18	chr21:47059800-47061600	Enhancers	Colonic Mucosa	Colon
19	chr21:47059800-47061800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47059800-47062000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr21:47059800-47062400	Enhancers	Primary B cells from cord blood	blood
22	chr21:47060200-47061600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:47060200-47061600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr21:47060200-47061800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr21:47060200-47062000	Bivalent Enhancer	Placenta	Placenta
26	chr21:47060200-47062200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr21:47060200-47062400	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr21:47060400-47061400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:47060400-47061800	Enhancers	NHEK	skin
30	chr21:47060400-47062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:47060400-47062400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:47060600-47061400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:47060600-47061600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47060600-47061600	Weak transcription	Gastric	stomach
35	chr21:47060600-47061600	Weak transcription	Lung	lung
36	chr21:47060600-47061800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:47060600-47062000	Weak transcription	Dnd41	blood
38	chr21:47060600-47062200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:47060600-47062400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:47060600-47062800	Enhancers	Primary T cells from cord blood	blood
41	chr21:47060800-47061600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr21:47060800-47061600	Weak transcription	Small Intestine	intestine
43	chr21:47060800-47061600	Enhancers	NHDF-Ad	bronchial
44	chr21:47060800-47062000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr21:47060800-47062000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:47060800-47063600	Weak transcription	HSMMtube	muscle
47	chr21:47060800-47064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:47061000-47061400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr21:47061000-47061400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:47061000-47061400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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