Variant report

Variant	nsv459311
Chromosome Location	chr21:47536546-47549613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr21:47547814-47548042	GM12878	blood:	n/a	n/a
2	BHLHE40	chr21:47545271-47545435	K562	blood:	n/a	chr21:47545317-47545326
3	BHLHE40	chr21:47547550-47548181	K562	blood:	n/a	n/a
4	BHLHE40	chr21:47545687-47545789	K562	blood:	n/a	n/a
5	CCNT2	chr21:47544395-47544510	K562	blood:	n/a	n/a
6	CEBPB	chr21:47542272-47542481	IMR90	lung:	n/a	n/a
7	CTCF	chr21:47541200-47541350	HMF	breast:	n/a	n/a
8	CTCF	chr21:47541320-47541470	BJ	skin:	n/a	chr21:47541342-47541355
9	CTCF	chr21:47542180-47542330	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr21:47537117-47537219	MCF-7	breast:	n/a	n/a
11	CTCF	chr21:47537109-47537201	MCF-7	breast:	n/a	n/a
12	CTCF	chr21:47541300-47541450	AoAF	blood vessel:	n/a	chr21:47541342-47541355
13	CTCF	chr21:47541240-47541390	HCFaa	heart:	n/a	chr21:47541342-47541355
14	CTCF	chr21:47542220-47542370	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr21:47541363-47541382	Fibrobl	skin:	n/a	n/a
16	CTCF	chr21:47542160-47542310	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr21:47541300-47541450	HBMEC	blood vessel:	n/a	chr21:47541342-47541355
18	CTCF	chr21:47541349-47541393	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr21:47541300-47541450	HEK293	kidney:	n/a	chr21:47541342-47541355
20	CTCF	chr21:47537153-47537181	MCF-7	breast:	n/a	n/a
21	CTCF	chr21:47542180-47542330	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr21:47542200-47542350	HMF	breast:	n/a	n/a
23	CTCF	chr21:47541300-47541450	HMF	breast:	n/a	chr21:47541342-47541355
24	CTCF	chr21:47541260-47541410	AG04449	skin:	n/a	chr21:47541342-47541355
25	CTCF	chr21:47541302-47541375	H1-hESC	embryonic stem cell:	n/a	chr21:47541342-47541355
26	CTCF	chr21:47542020-47542170	AG09309	skin:	n/a	n/a
27	CTCF	chr21:47542240-47542390	AG09309	skin:	n/a	n/a
28	CTCF	chr21:47542180-47542330	HMF	breast:	n/a	n/a
29	E2F4	chr21:47542203-47542416	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chr21:47545591-47545827	K562	blood:	n/a	n/a
31	EGR1	chr21:47545623-47545779	K562	blood:	n/a	n/a
32	EGR1	chr21:47543342-47544119	K562	blood:	n/a	n/a
33	EGR1	chr21:47543450-47543609	K562	blood:	n/a	n/a
34	EGR1	chr21:47546885-47547062	K562	blood:	n/a	n/a
35	EP300	chr21:47547589-47548905	SK-N-SH	brain:	n/a	chr21:47548337-47548353 chr21:47548036-47548049
36	EP300	chr21:47548293-47548692	SK-N-SH_RA	brain:	n/a	chr21:47548337-47548353
37	EP300	chr21:47548387-47548660	SK-N-SH_RA	brain:	n/a	n/a
38	FOS	chr21:47542213-47542453	MCF10A-Er-Src	breast:	n/a	chr21:47542377-47542387 chr21:47542223-47542231 chr21:47542222-47542232 chr21:47542377-47542387 chr21:47542378-47542386 chr21:47542222-47542232 chr21:47542376-47542388 chr21:47542377-47542387 chr21:47542222-47542232 chr21:47542222-47542232
39	FOS	chr21:47542107-47542501	MCF10A-Er-Src	breast:	n/a	chr21:47542377-47542387 chr21:47542223-47542231 chr21:47542222-47542232 chr21:47542450-47542461 chr21:47542377-47542387 chr21:47542378-47542386 chr21:47542222-47542232 chr21:47542376-47542388 chr21:47542377-47542387 chr21:47542222-47542232 chr21:47542222-47542232
40	FOS	chr21:47542051-47542509	MCF10A-Er-Src	breast:	n/a	chr21:47542377-47542387 chr21:47542223-47542231 chr21:47542222-47542232 chr21:47542450-47542461 chr21:47542377-47542387 chr21:47542378-47542386 chr21:47542222-47542232 chr21:47542376-47542388 chr21:47542377-47542387 chr21:47542073-47542082 chr21:47542222-47542232 chr21:47542222-47542232
41	FOS	chr21:47542148-47542509	MCF10A-Er-Src	breast:	n/a	chr21:47542377-47542387 chr21:47542223-47542231 chr21:47542222-47542232 chr21:47542450-47542461 chr21:47542377-47542387 chr21:47542378-47542386 chr21:47542222-47542232 chr21:47542376-47542388 chr21:47542377-47542387 chr21:47542222-47542232 chr21:47542222-47542232
42	GATA2	chr21:47547824-47548740	SH-SY5Y	brain:	n/a	n/a
43	HMGN3	chr21:47546853-47547015	K562	blood:	n/a	n/a
44	HMGN3	chr21:47545197-47545397	K562	blood:	n/a	n/a
45	HMGN3	chr21:47541863-47542063	K562	blood:	n/a	n/a
46	HMGN3	chr21:47538047-47538493	K562	blood:	n/a	n/a
47	JUND	chr21:47545174-47545203	K562	blood:	n/a	n/a
48	JUND	chr21:47545088-47545354	HepG2	liver:	n/a	n/a
49	MAX	chr21:47546925-47546990	NB4	blood:	n/a	chr21:47546965-47546974 chr21:47546966-47546976 chr21:47546965-47546980 chr21:47546967-47546977
50	MAX	chr21:47546525-47547102	K562	blood:	n/a	chr21:47546965-47546974 chr21:47546966-47546976 chr21:47546965-47546980 chr21:47546967-47546977

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47536647-47536697	HCT-116	colon:	n/a
2	chr21:47546211-47546261	Caco-2	colon:	n/a
3	chr21:47536647-47536697	HCT-116	colon:	n/a
4	chr21:47546211-47546261	Caco-2	colon:	n/a
5	chr21:47548991-47549041	HepG2	liver:	n/a
6	chr21:47545200-47545250	HAEpiC	amniotic membrane:	n/a
7	chr21:47549369-47549419	RPTEC	kidney:	n/a
8	chr21:47546211-47546261	U87	brain:	n/a
9	chr21:47549369-47549419	BE2_C	brain:	n/a
10	chr21:47546211-47546261	RPTEC	kidney:	n/a
11	chr21:47546030-47546080	GM12891	blood:	n/a
12	chr21:47545200-47545250	SK-N-SH	brain:	n/a
13	chr21:47546030-47546080	HL-60	blood:	n/a
14	chr21:47536647-47536697	MCF10A-Er-Src	breast:	n/a
15	chr21:47544366-47544416	NHBE	bronchial:	n/a
16	chr21:47545624-47545674	Jurkat	blood:	n/a
17	chr21:47545624-47545674	HCF	heart:	n/a
18	chr21:47545200-47545250	AG09309	skin:	n/a
19	chr21:47547796-47547846	SK-N-SH_RA	brain:	n/a
20	chr21:47544366-47544416	Caco-2	colon:	n/a
21	chr21:47546030-47546080	SK-N-SH	brain:	n/a
22	chr21:47541643-47541693	HRPEpiC	eye:	n/a
23	chr21:47541643-47541693	HEK293	kidney:	embryo
24	chr21:47544366-47544416	GM12892	blood:	n/a
25	chr21:47545624-47545674	SK-N-SH_RA	brain:	n/a
26	chr21:47541643-47541693	HUVEC	blood vessel:	n/a
27	chr21:47546211-47546261	IMR90	lung:	fetal
28	chr21:47546211-47546261	HAEpiC	amniotic membrane:	n/a
29	chr21:47549369-47549419	HCF	heart:	n/a
30	chr21:47549369-47549419	ECC-1	luminal epithelium:	n/a
31	chr21:47536647-47536697	HNPCEpiC	eye:	n/a
32	chr21:47545588-47545638	HRE	kidney:	n/a
33	chr21:47541643-47541693	SAEC	small airway:	n/a
34	chr21:47547796-47547846	NHDF-neo	bronchial:	n/a
35	chr21:47544366-47544416	ovcar-3	ovarian:	n/a
36	chr21:47545624-47545674	AG09319	gingival:	n/a
37	chr21:47546211-47546261	HEK293	kidney:	embryo
38	chr21:47545624-47545674	ovcar-3	ovarian:	n/a
39	chr21:47549369-47549419	U87	brain:	n/a
40	chr21:47546030-47546080	HRE	kidney:	n/a
41	chr21:47544366-47544416	GM06990	blood:	n/a
42	chr21:47546030-47546080	SK-N-MC	brain:	n/a
43	chr21:47545588-47545638	U87	brain:	n/a
44	chr21:47541643-47541693	NHBE	bronchial:	n/a
45	chr21:47545588-47545638	T-47D	breast:	n/a
46	chr21:47546030-47546080	MCF-7	breast:	n/a
47	chr21:47545588-47545638	GM12891	blood:	n/a
48	chr21:47547796-47547846	HAEpiC	amniotic membrane:	n/a
49	chr21:47541643-47541693	HRCEpiC	kidney:	n/a
50	chr21:47545588-47545638	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47547743..47554326-chr21:47559264..47565052,9	K562	blood:
2	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:
3	chr21:47519810..47521961-chr21:47534620..47537077,2	MCF-7	breast:
4	chr21:47546573..47548982-chr21:47703527..47706476,2	K562	blood:
5	chr21:47538617..47540364-chr21:47544216..47545924,2	K562	blood:
6	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:
7	chr21:47537552..47539666-chr21:47543729..47546397,2	MCF-7	breast:
8	chr21:47520309..47523211-chr21:47546130..47548721,2	K562	blood:
9	chr21:47541436..47543362-chr21:47547811..47549445,2	K562	blood:
10	chr21:47532227..47535245-chr21:47541514..47543386,3	K562	blood:
11	chr21:47537552..47539666-chr21:47543729..47546397,2	MCF-7	breast:
12	chr21:47541683..47544429-chr21:47545016..47549303,6	MCF-7	breast:
13	chr21:47538006..47540083-chr21:47541061..47544033,2	K562	blood:
14	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
15	chr21:47537967..47540415-chr21:47549344..47551448,2	MCF-7	breast:
16	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:
17	chr21:47533578..47536250-chr21:47536391..47538002,2	MCF-7	breast:
18	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
19	chr21:47541436..47543362-chr21:47547811..47549445,2	K562	blood:
20	chr21:47517394..47519929-chr21:47546323..47547843,2	MCF-7	breast:
21	chr21:47541683..47544429-chr21:47545016..47549303,6	MCF-7	breast:
22	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
23	chr21:47541862..47543590-chr21:47545123..47546929,2	K562	blood:
24	chr21:47532415..47535258-chr21:47539694..47542079,2	K562	blood:
25	chr21:47541862..47543590-chr21:47545123..47546929,2	K562	blood:
26	chr21:47470351..47471891-chr21:47543505..47546157,2	K562	blood:
27	chr21:47538006..47540083-chr21:47541061..47544033,2	K562	blood:
28	chr21:47537967..47540415-chr21:47549344..47551448,2	MCF-7	breast:
29	chr21:47528742..47530746-chr21:47548345..47549950,2	K562	blood:
30	chr21:47538617..47540364-chr21:47544216..47545924,2	K562	blood:
31	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
32	chr21:47539891..47541656-chr21:47545952..47548915,2	MCF-7	breast:
33	chr21:47518390..47520810-chr21:47533639..47537414,3	MCF-7	breast:
34	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
35	chr21:47528466..47532989-chr21:47534899..47537069,4	K562	blood:

Variant related genes	Relation type
COL6A2	TF binding region
COL6A2	CpG island
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000160282	chromatin interactions

Extended variants
information (count: 1286 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1286 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs762438	chr21:47536546-47536547	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376565737	chr21:47536547-47536548	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201223913	chr21:47536554-47536555	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200571090	chr21:47536556-47536557	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370624136	chr21:47536570-47536571	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531713008	chr21:47536579-47536580	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549800720	chr21:47536582-47536583	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373782637	chr21:47536587-47536588	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369190399	chr21:47536588-47536589	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs367630571	chr21:47536595-47536596	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568409782	chr21:47536607-47536608	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372946815	chr21:47536647-47536648	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376071139	chr21:47536651-47536652	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368423271	chr21:47536659-47536660	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372393202	chr21:47536667-47536668	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs398123651	chr21:47536676-47536677	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139399166	chr21:47536717-47536718	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs199783099	chr21:47536735-47536736	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376378709	chr21:47536738-47536739	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201740510	chr21:47536740-47536741	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372055794	chr21:47536743-47536744	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201951823	chr21:47536749-47536750	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374978027	chr21:47536758-47536759	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189785317	chr21:47536784-47536785	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542220385	chr21:47536789-47536790	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530497171	chr21:47536795-47536796	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147649367	chr21:47536799-47536800	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142262873	chr21:47536802-47536803	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3138693	chr21:47536832-47536833	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147352816	chr21:47536840-47536841	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570684761	chr21:47536841-47536842	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144713808	chr21:47536860-47536861	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs112666524	chr21:47536861-47536862	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113348125	chr21:47536862-47536863	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71185194	chr21:47536870-47536871	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573682952	chr21:47536925-47536926	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375418399	chr21:47536936-47536937	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559406881	chr21:47536940-47536941	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577742061	chr21:47536948-47536949	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79723575	chr21:47536954-47536955	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544907228	chr21:47536959-47536960	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146456812	chr21:47536971-47536972	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181885298	chr21:47536974-47536975	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368000563	chr21:47537002-47537003	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549863990	chr21:47537044-47537045	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561704697	chr21:47537056-47537057	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34588916	chr21:47537086-47537087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116587649	chr21:47537110-47537111	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547656810	chr21:47537124-47537125	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566271730	chr21:47537132-47537133	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 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:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47526800-47541200	Strong transcription	Osteobl	bone
2	chr21:47529600-47546800	Weak transcription	Small Intestine	intestine
3	chr21:47530800-47543000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr21:47530800-47545800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr21:47530800-47563600	Weak transcription	Right Atrium	heart
6	chr21:47531000-47541800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:47531000-47547800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr21:47531000-47548800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:47531800-47537600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:47531800-47549400	Strong transcription	Aorta	Aorta
11	chr21:47531800-47549600	Strong transcription	Colon Smooth Muscle	Colon
12	chr21:47531800-47550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr21:47532000-47543000	Strong transcription	Left Ventricle	heart
14	chr21:47532000-47547200	Strong transcription	Right Ventricle	heart
15	chr21:47532000-47549400	Strong transcription	Colonic Mucosa	Colon
16	chr21:47533000-47547000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr21:47533400-47539200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr21:47534200-47536800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:47534800-47536600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47535000-47546200	Strong transcription	Fetal Lung	lung
21	chr21:47535000-47554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr21:47535200-47536800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:47535200-47536800	Weak transcription	Fetal Brain Male	brain
24	chr21:47535200-47536800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:47535200-47538000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:47535200-47538200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr21:47535200-47538400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:47535200-47539600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:47535200-47541400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr21:47535200-47541600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr21:47535200-47542600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:47535200-47544400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr21:47535200-47544600	Strong transcription	Spleen	Spleen
34	chr21:47535200-47545200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:47535200-47545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:47535200-47546200	Weak transcription	Fetal Kidney	kidney
37	chr21:47535200-47546400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr21:47535200-47547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:47535200-47548000	Strong transcription	Fetal Stomach	stomach
40	chr21:47535200-47548200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:47535200-47548200	Weak transcription	Brain Germinal Matrix	brain
42	chr21:47535200-47549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr21:47535200-47549600	Strong transcription	Adipose Nuclei	Adipose
44	chr21:47535200-47551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:47535200-47552000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:47535200-47552000	Strong transcription	NHLF	lung
47	chr21:47535200-47552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:47535200-47552800	Strong transcription	Fetal Muscle Leg	muscle
49	chr21:47535400-47536600	Weak transcription	HSMMtube	muscle
50	chr21:47535400-47537400	Genic enhancers	Placenta	Placenta

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