Variant report

Variant	rs11702775
Chromosome Location	chr21:47607847-47607848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:47607816-47608011	K562	blood:	n/a	n/a
2	MAX	chr21:47607815-47608101	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr21:47607761-47607997	PANC-1	pancreas:	n/a	n/a
4	MAX	chr21:47607700-47608069	K562	blood:	n/a	n/a
5	MXI1	chr21:47607576-47609895	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr21:47605590-47608104	HepG2	liver:	n/a	n/a
7	POLR2A	chr21:47607183-47608799	GM12891	blood:	n/a	n/a
8	JUN	chr21:47607675-47610104	K562	blood:	n/a	n/a
9	POLR2A	chr21:47607727-47608134	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:47607191-47609947	K562	blood:	n/a	n/a
11	POLR2A	chr21:47607054-47608226	HepG2	liver:	n/a	n/a
12	MAX	chr21:47607772-47608147	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr21:47607111-47608123	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr21:47607719-47607855	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47571793..47574970-chr21:47606794..47610224,4	MCF-7	breast:
2	chr21:47607471..47609204-chr21:47739209..47740875,2	K562	blood:
3	chr21:47606790..47609628-chr21:47614415..47615920,2	MCF-7	breast:
4	chr21:47607532..47609411-chr21:47620514..47622375,2	K562	blood:
5	chr21:47605676..47611866-chr21:47647121..47650700,5	K562	blood:
6	chr21:47601884..47606848-chr21:47606938..47611467,11	MCF-7	breast:
7	chr21:47606363..47609230-chr21:47646261..47649400,3	MCF-7	breast:

No data

Variant related genes	Relation type
SPATC1L	TF binding region
ENSG00000160285	Chromatin interaction
ENSG00000160284	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000228404	Chromatin interaction
ENSG00000215424	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11700727	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11700943	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701000	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11702846	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176835	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17182788	0.94[ASN][1000 genomes]
rs17183130	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183318	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2187119	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839142	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839159	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2839179	0.94[ASN][1000 genomes]
rs56173768	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691594	0.88[ASN][1000 genomes]
rs73144751	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144753	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144754	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144764	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

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	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11702775	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs11702775	C21orf56	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47604600-47609000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:47605000-47608400	Weak transcription	Pancreas	Pancrea
3	chr21:47605000-47608600	Weak transcription	Gastric	stomach
4	chr21:47605000-47609200	Weak transcription	Lung	lung
5	chr21:47605000-47609200	Weak transcription	Spleen	Spleen
6	chr21:47605000-47609400	Weak transcription	Aorta	Aorta
7	chr21:47605000-47609400	Weak transcription	Esophagus	oesophagus
8	chr21:47605000-47610600	Weak transcription	Colon Smooth Muscle	Colon
9	chr21:47605000-47611600	Weak transcription	Small Intestine	intestine
10	chr21:47605000-47613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:47605000-47613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
13	chr21:47605200-47608000	Weak transcription	HepG2	liver
14	chr21:47605200-47608000	Weak transcription	NH-A	brain
15	chr21:47605200-47608200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:47605200-47608200	Weak transcription	HSMM	muscle
17	chr21:47605200-47608400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:47605200-47608400	Weak transcription	Dnd41	blood
19	chr21:47605200-47608400	Weak transcription	Osteobl	bone
20	chr21:47605200-47609200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:47605200-47609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47605200-47609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:47605200-47609400	Weak transcription	Colonic Mucosa	Colon
24	chr21:47605200-47610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47605200-47613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
27	chr21:47605400-47608000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr21:47605400-47608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr21:47605400-47608000	Weak transcription	Hela-S3	cervix
30	chr21:47605400-47608200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr21:47605400-47608200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr21:47605400-47608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:47605400-47608200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr21:47605400-47608400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:47605400-47608400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:47605400-47608400	Weak transcription	Fetal Muscle Leg	muscle
37	chr21:47605400-47608600	Weak transcription	Fetal Intestine Small	intestine
38	chr21:47605400-47608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:47605400-47609200	Weak transcription	Primary T cells from cord blood	blood
40	chr21:47605400-47609400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr21:47605400-47609400	Weak transcription	Right Ventricle	heart
42	chr21:47605400-47610200	Weak transcription	Fetal Intestine Large	intestine
43	chr21:47605400-47611000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:47605400-47613400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr21:47605400-47613600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:47605600-47608000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:47605600-47608000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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