Variant report

Variant	rs8126678
Chromosome Location	chr21:47573887-47573888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47571215..47574863-chr21:47704385..47707059,3	MCF-7	breast:
2	chr21:47572801..47575123-chr21:47608249..47610070,2	MCF-7	breast:
3	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
4	chr21:47565931..47567965-chr21:47573365..47574970,2	K562	blood:
5	chr21:47572328..47575443-chr21:47578503..47583188,4	MCF-7	breast:
6	chr21:47571793..47574970-chr21:47606794..47610224,4	MCF-7	breast:
7	chr21:47572060..47573933-chr21:47704576..47706240,2	MCF-7	breast:
8	chr21:47573404..47575151-chr21:47604285..47605911,2	K562	blood:
9	chr21:47572242..47575458-chr21:47578361..47583454,7	K562	blood:
10	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160282	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000160284	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000228404	Chromatin interaction
ENSG00000182362	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11089051	1.00[ASN][1000 genomes]
rs11908812	1.00[ASN][1000 genomes]
rs12482002	1.00[ASN][1000 genomes]
rs12482343	1.00[ASN][1000 genomes]
rs12482741	1.00[ASN][1000 genomes]
rs12482903	1.00[ASN][1000 genomes]
rs12482934	1.00[ASN][1000 genomes]
rs12483577	1.00[ASN][1000 genomes]
rs13046028	1.00[ASN][1000 genomes]
rs13047784	1.00[ASN][1000 genomes]
rs16979054	1.00[ASN][1000 genomes]
rs17176534	1.00[ASN][1000 genomes]
rs17176737	1.00[ASN][1000 genomes]
rs17176779	1.00[ASN][1000 genomes]
rs17176793	1.00[ASN][1000 genomes]
rs17176800	1.00[ASN][1000 genomes]
rs17176905	1.00[ASN][1000 genomes]
rs17176926	1.00[ASN][1000 genomes]
rs17176974	1.00[ASN][1000 genomes]
rs17176988	1.00[ASN][1000 genomes]
rs17177030	1.00[ASN][1000 genomes]
rs17182739	1.00[ASN][1000 genomes]
rs17182746	1.00[ASN][1000 genomes]
rs17183137	1.00[ASN][1000 genomes]
rs17183151	1.00[ASN][1000 genomes]
rs17183220	1.00[ASN][1000 genomes]
rs17183368	1.00[ASN][1000 genomes]
rs17183473	1.00[ASN][1000 genomes]
rs2212749	1.00[ASN][1000 genomes]
rs2839127	0.83[EUR][1000 genomes]
rs2839169	1.00[ASN][1000 genomes]
rs56693387	1.00[ASN][1000 genomes]
rs59613587	1.00[ASN][1000 genomes]
rs60751239	1.00[ASN][1000 genomes]
rs61181882	1.00[ASN][1000 genomes]
rs61448213	1.00[ASN][1000 genomes]
rs61736728	1.00[ASN][1000 genomes]
rs62212860	1.00[ASN][1000 genomes]
rs62214040	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214041	1.00[ASN][1000 genomes]
rs62214042	1.00[ASN][1000 genomes]
rs62214043	1.00[ASN][1000 genomes]
rs62214045	1.00[ASN][1000 genomes]
rs62214046	1.00[ASN][1000 genomes]
rs62214051	1.00[ASN][1000 genomes]
rs62214052	1.00[ASN][1000 genomes]
rs62214055	1.00[ASN][1000 genomes]
rs62215182	1.00[ASN][1000 genomes]
rs62215183	1.00[ASN][1000 genomes]
rs62215184	1.00[ASN][1000 genomes]
rs62215186	1.00[ASN][1000 genomes]
rs62215187	1.00[ASN][1000 genomes]
rs66956709	1.00[ASN][1000 genomes]
rs8134519	1.00[ASN][1000 genomes]
rs9977340	1.00[ASN][1000 genomes]
rs9979331	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 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	nsv525728	chr21:47472641-47583506	Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
18	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
19	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
20	nsv914100	chr21:47491014-47582102	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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
21	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
22	nsv914102	chr21:47505084-47589099	Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
23	nsv914103	chr21:47507689-47589099	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
24	nsv914104	chr21:47512330-47589099	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
25	nsv914105	chr21:47514885-47589099	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
26	nsv914106	chr21:47514885-47603465	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
27	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
28	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
29	nsv914110	chr21:47526240-47582102	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
30	nsv914111	chr21:47526240-47589099	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
31	nsv914112	chr21:47526240-47589535	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
32	nsv914113	chr21:47526240-47591770	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
33	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
34	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
35	nsv470911	chr21:47535248-47591770	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
36	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
37	esv1840270	chr21:47536546-47589099	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
38	nsv914117	chr21:47538960-47575372	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh 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
39	nsv914118	chr21:47538960-47582102	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
40	nsv914119	chr21:47538960-47589099	Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
41	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
42	nsv517870	chr21:47542779-47575372	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
43	nsv527953	chr21:47542779-47575372	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
44	nsv914121	chr21:47542779-47582102	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
45	nsv914122	chr21:47548347-47589535	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
46	nsv587952	chr21:47548555-47582102	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
47	nsv914123	chr21:47549629-47575372	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
48	nsv914124	chr21:47550754-47603465	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
49	nsv914125	chr21:47550912-47575372	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
50	nsv914126	chr21:47558994-47591770	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8126678	SPATC1L	cis	Skin Sun Exposed Lower leg	GTEx
rs8126678	SPATC1L	cis	Muscle Skeletal	GTEx
rs8126678	FTCD	cis	Thyroid	GTEx
rs8126678	FTCD	cis	Adipose Subcutaneous	GTEx
rs8126678	SPATC1L	cis	Artery Tibial	GTEx
rs8126678	C21orf56	Cis_1M	lymphoblastoid	RTeQTL
rs8126678	SPATC1L	cis	Esophagus Mucosa	GTEx
rs8126678	SPATC1L	cis	lung	GTEx
rs8126678	SPATC1L	cis	Adipose Subcutaneous	GTEx
rs8126678	SPATC1L	cis	Esophagus Muscularis	GTEx
rs8126678	SPATC1L	cis	Thyroid	GTEx
rs8126678	SPATC1L	cis	Heart Left Ventricle	GTEx
rs8126678	SPATC1L	cis	Whole Blood	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47562600-47580600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:47564800-47575200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:47571000-47574600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:47571200-47574200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:47572200-47574000	Enhancers	Fetal Muscle Leg	muscle
6	chr21:47572200-47574200	Enhancers	Fetal Heart	heart
7	chr21:47572600-47574000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:47572600-47574000	Enhancers	Placenta	Placenta
9	chr21:47572800-47574200	Flanking Active TSS	Liver	Liver
10	chr21:47573000-47574000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:47573000-47574000	Enhancers	Fetal Lung	lung
12	chr21:47573000-47574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:47573000-47576400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:47573200-47575200	Active TSS	Fetal Intestine Large	intestine
15	chr21:47573200-47575600	Active TSS	HepG2	liver
16	chr21:47573200-47581000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:47573400-47590200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:47573600-47574000	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:47573600-47574000	Enhancers	Fetal Stomach	stomach
20	chr21:47573600-47575600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr21:47573600-47576200	Weak transcription	Spleen	Spleen
22	chr21:47573600-47578000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr21:47573600-47578000	Weak transcription	Fetal Brain Male	brain
24	chr21:47573600-47581000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:47573600-47581000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:47573600-47581000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:47573600-47581400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:47573600-47581800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr21:47573600-47583200	Weak transcription	Brain Substantia Nigra	brain
30	chr21:47573600-47589600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr21:47573600-47600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr21:47573600-47602000	Weak transcription	Gastric	stomach
33	chr21:47573800-47574000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:47573800-47574000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:47573800-47574000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr21:47573800-47574000	Enhancers	Pancreas	Pancrea
37	chr21:47573800-47574200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:47573800-47574200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr21:47573800-47574400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:47573800-47574400	Enhancers	Stomach Smooth Muscle	stomach
41	chr21:47573800-47574800	Active TSS	Fetal Intestine Small	intestine
42	chr21:47573800-47575000	Enhancers	K562	blood
43	chr21:47573800-47575200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:47573800-47575200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr21:47573800-47575600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:47573800-47575800	Weak transcription	Lung	lung
47	chr21:47573800-47576000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:47573800-47578000	Weak transcription	Ovary	ovary
49	chr21:47573800-47579800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:47573800-47579800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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