Variant report

Variant	rs73144734
Chromosome Location	chr21:47603893-47603894
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:47603760-47605410	K562	blood:	n/a	chr21:47604971-47604980
2	STAT5A	chr21:47603209-47603970	K562	blood:	n/a	n/a
3	MAX	chr21:47603767-47604438	K562	blood:	n/a	n/a
4	POLR2A	chr21:47603374-47605386	SK-N-MC	brain:	n/a	n/a
5	TRIM28	chr21:47603206-47604784	K562	blood:	n/a	n/a
6	NFYB	chr21:47603837-47605189	K562	blood:	n/a	n/a
7	CEBPB	chr21:47603263-47603964	K562	blood:	n/a	n/a
8	TBL1XR1	chr21:47603214-47604365	K562	blood:	n/a	n/a
9	YY1	chr21:47603821-47604298	K562	blood:	n/a	n/a
10	HEY1	chr21:47603302-47605165	K562	blood:	n/a	n/a
11	SP2	chr21:47603832-47604446	K562	blood:	n/a	n/a
12	POLR2A	chr21:47603811-47605262	K562	blood:	n/a	n/a
13	EGR1	chr21:47603781-47604213	K562	blood:	n/a	n/a
14	GATA2	chr21:47603217-47603972	K562	blood:	n/a	n/a
15	RCOR1	chr21:47603865-47604349	K562	blood:	n/a	n/a
16	TEAD4	chr21:47603751-47604447	K562	blood:	n/a	n/a
17	E2F6	chr21:47603807-47605118	K562	blood:	n/a	n/a
18	POLR2A	chr21:47603770-47605185	K562	blood:	n/a	n/a
19	TEAD4	chr21:47603757-47604319	K562	blood:	n/a	n/a
20	POLR2A	chr21:47603794-47604425	K562	blood:	n/a	n/a
21	HEY1	chr21:47603278-47604691	K562	blood:	n/a	n/a
22	PML	chr21:47603805-47604398	K562	blood:	n/a	n/a
23	POLR2A	chr21:47603795-47604347	K562	blood:	n/a	n/a
24	TAL1	chr21:47603300-47604348	K562	blood:	n/a	n/a
25	REST	chr21:47603837-47605551	H1-neurons	neurons:	n/a	chr21:47604308-47604318
26	MAX	chr21:47603836-47605246	K562	blood:	n/a	chr21:47604971-47604980
27	MYC	chr21:47603747-47605248	K562	blood:	n/a	chr21:47604971-47604980
28	POLR2A	chr21:47603282-47605211	K562	blood:	n/a	n/a
29	HMGN3	chr21:47602423-47605064	K562	blood:	n/a	chr21:47604973-47604982 chr21:47604970-47604979
30	ZBTB33	chr21:47603297-47603991	K562	blood:	n/a	n/a
31	HCFC1	chr21:47603837-47605091	K562	blood:	n/a	n/a
32	EGR1	chr21:47603769-47604285	K562	blood:	n/a	n/a
33	KAP1	chr21:47603798-47604391	K562	blood:	n/a	n/a
34	TBP	chr21:47603849-47605346	K562	blood:	n/a	n/a
35	POLR2A	chr21:47603726-47605324	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP1	chr21:47603191-47604951	K562	blood:	n/a	n/a
37	POLR2A	chr21:47603787-47604163	HL-60	blood:	n/a	n/a
38	STAT5A	chr21:47603250-47604022	K562	blood:	n/a	n/a
39	POLR2A	chr21:47603771-47604433	K562	blood:	n/a	n/a
40	CBX3	chr21:47603261-47605256	K562	blood:	n/a	n/a
41	POLR2A	chr21:47603815-47605268	K562	blood:	n/a	n/a
42	BHLHE40	chr21:47603834-47605107	K562	blood:	n/a	n/a
43	GABPA	chr21:47603876-47605149	K562	blood:	n/a	n/a
44	CEBPD	chr21:47603229-47604112	K562	blood:	n/a	n/a
45	ZBTB7A	chr21:47603791-47604414	K562	blood:	n/a	n/a
46	JUND	chr21:47603133-47605414	K562	blood:	n/a	chr21:47604970-47604981 chr21:47604970-47604982 chr21:47604971-47604980
47	POLR2A	chr21:47603829-47604356	K562	blood:	n/a	n/a
48	MAZ	chr21:47602468-47605254	K562	blood:	n/a	chr21:47604971-47604980
49	POLR2A	chr21:47603839-47605247	K562	blood:	n/a	n/a
50	NR2F2	chr21:47603291-47604766	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
2	chr21:47602500..47604164-chr21:47614586..47616622,2	K562	blood:
3	chr21:47602847..47606841-chr21:47742668..47745795,6	K562	blood:
4	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
5	chr21:47601203..47604335-chr21:47632751..47634921,3	K562	blood:
6	chr21:47563633..47565565-chr21:47603562..47606281,2	K562	blood:
7	chr21:47571733..47573390-chr21:47601169..47604058,2	K562	blood:
8	chr21:47603167..47605215-chr21:47743246..47745709,3	K562	blood:
9	chr21:47563716..47566123-chr21:47602803..47604796,2	K562	blood:
10	chr21:47602452..47604357-chr21:47877079..47880272,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228404	TF binding region
ENSG00000160299	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000160282	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160298	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10470249	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909543	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910988	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556338	1.00[ASN][1000 genomes]
rs16978976	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17293390	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839151	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839165	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839219	1.00[ASN][1000 genomes]
rs34984641	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4365550	1.00[ASN][1000 genomes]
rs4438580	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808731	1.00[ASN][1000 genomes]
rs55819909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55870069	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56083834	1.00[ASN][1000 genomes]
rs56127585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317629	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333186	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350296	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376803	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58201958	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58861127	1.00[ASN][1000 genomes]
rs61140994	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144708	0.81[EUR][1000 genomes]
rs73144714	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144730	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144732	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144744	1.00[ASN][1000 genomes]
rs73144798	1.00[ASN][1000 genomes]
rs73146707	1.00[ASN][1000 genomes]
rs73146709	1.00[ASN][1000 genomes]
rs73146739	1.00[ASN][1000 genomes]
rs747439	1.00[ASN][1000 genomes]
rs8126854	0.81[EUR][1000 genomes]
rs8127800	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128111	0.81[EUR][1000 genomes]
rs8128270	0.81[EUR][1000 genomes]
rs8133508	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134429	1.00[ASN][1000 genomes]
rs9647242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
2	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
4	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
6	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
8	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
9	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
10	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
11	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
12	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
14	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
15	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
16	nsv914098	chr21:47467894-47619784	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
17	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
18	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
19	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
20	nsv914107	chr21:47514885-47605335	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
21	nsv914108	chr21:47514885-47609677	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
22	nsv914114	chr21:47526240-47605335	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
23	nsv914115	chr21:47526240-47614469	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
24	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
25	nsv914120	chr21:47538960-47605335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
26	nsv914128	chr21:47558994-47609677	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
27	nsv914129	chr21:47566828-47609677	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
28	nsv914131	chr21:47572244-47609677	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
29	nsv914132	chr21:47572244-47619784	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
30	esv1836991	chr21:47583506-47603902	Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
31	nsv914133	chr21:47583506-47613486	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
32	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
33	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
34	esv1816243	chr21:47588465-47603973	ZNF genes & repeats Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
35	esv1824913	chr21:47588465-47603973	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
36	esv1822235	chr21:47588465-47610305	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
37	esv1838468	chr21:47589099-47603953	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
38	esv1835687	chr21:47589099-47605335	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
39	esv1838471	chr21:47589099-47605335	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
40	nsv587959	chr21:47589313-47603902	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
41	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
42	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
43	nsv587964	chr21:47599913-47603902	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
44	esv3498615	chr21:47602674-47604872	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
45	esv3498614	chr21:47603337-47603948	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
46	esv2076361	chr21:47603342-47603918	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
47	esv3455558	chr21:47603350-47603913	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
48	esv3455559	chr21:47603350-47603913	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
49	esv15601	chr21:47603360-47604350	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
50	esv3424634	chr21:47603369-47603914	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73144734	SPATC1L	cis	Whole Blood	GTEx
rs73144734	SPATC1L	cis	lung	GTEx
rs73144734	SPATC1L	cis	Adipose Subcutaneous	GTEx
rs73144734	SPATC1L	cis	Muscle Skeletal	GTEx
rs73144734	SPATC1L	cis	Thyroid	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47601200-47604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47602000-47604000	Enhancers	Spleen	Spleen
3	chr21:47602400-47604000	Enhancers	Fetal Brain Male	brain
4	chr21:47602800-47605600	Active TSS	Brain Angular Gyrus	brain
5	chr21:47603000-47605200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47603000-47605200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr21:47603000-47605400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr21:47603200-47604000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:47603200-47605000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr21:47603200-47605200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr21:47603200-47605200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:47603200-47605200	Active TSS	Brain Germinal Matrix	brain
13	chr21:47603200-47605200	Active TSS	Hela-S3	cervix
14	chr21:47603200-47605200	Active TSS	HSMM	muscle
15	chr21:47603200-47605400	Active TSS	Rectal Smooth Muscle	rectum
16	chr21:47603400-47604000	Active TSS	HepG2	liver
17	chr21:47603400-47605200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr21:47603400-47605200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:47603400-47605200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr21:47603400-47605400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:47603400-47605400	Active TSS	Brain Cingulate Gyrus	brain
22	chr21:47603400-47605600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:47603400-47605600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:47603400-47605600	Active TSS	K562	blood
25	chr21:47603600-47605200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:47603600-47605200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr21:47603800-47604000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:47603800-47604000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:47603800-47604000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:47603800-47604000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr21:47603800-47604000	Enhancers	Primary T cells from cord blood	blood
32	chr21:47603800-47604000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:47603800-47604000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:47603800-47604000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
35	chr21:47603800-47604000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:47603800-47604000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:47603800-47604000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr21:47603800-47604000	Flanking Active TSS	Fetal Brain Female	brain
39	chr21:47603800-47604000	Flanking Active TSS	Fetal Lung	lung
40	chr21:47603800-47604000	Active TSS	Gastric	stomach
41	chr21:47603800-47604000	Active TSS	Pancreas	Pancrea
42	chr21:47603800-47604000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr21:47603800-47604000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr21:47603800-47604000	Active TSS	Right Ventricle	heart
45	chr21:47603800-47604000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr21:47603800-47604000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr21:47603800-47604000	Flanking Active TSS	NHLF	lung
48	chr21:47603800-47604200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:47603800-47604200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:47603800-47604200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links