Variant report

Variant	rs8126899
Chromosome Location	chr21:45666041-45666042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45664989-45666520	GM19099	blood:	n/a	n/a
2	NFATC1	chr21:45664827-45666553	GM12878	blood:	n/a	n/a
3	SPI1	chr21:45665706-45666723	GM12878	blood:	n/a	n/a
4	FOXM1	chr21:45665034-45666421	GM12878	blood:	n/a	n/a
5	NFATC1	chr21:45665534-45666556	GM12878	blood:	n/a	n/a
6	RUNX3	chr21:45664931-45666255	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:45664908-45668879	Raji	blood:	n/a	n/a
8	CHD1	chr21:45665753-45666077	GM12878	blood:	n/a	n/a
9	PAX5	chr21:45665443-45666171	GM12878	blood:	n/a	n/a
10	FOXM1	chr21:45665297-45666056	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:45664912-45668896	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr21:45666003-45666196	PFSK-1	brain:	n/a	n/a
13	STAT1	chr21:45665971-45666118	GM12878	blood:	n/a	n/a
14	ELF1	chr21:45665383-45666716	GM12878	blood:	n/a	n/a
15	PAX5	chr21:45665856-45666220	GM12878	blood:	n/a	n/a
16	RELA	chr21:45665305-45666406	GM12891	blood:	n/a	n/a
17	CEBPB	chr21:45665694-45666568	GM12878	blood:	n/a	n/a
18	MTA3	chr21:45664674-45666548	GM12878	blood:	n/a	n/a
19	MAX	chr21:45665969-45666232	K562	blood:	n/a	chr21:45666086-45666095
20	ELF1	chr21:45665426-45666247	GM12878	blood:	n/a	n/a
21	POLR2A	chr21:45658587-45668327	PFSK-1	brain:	n/a	n/a
22	STAT5A	chr21:45664908-45666886	GM12878	blood:	n/a	chr21:45665083-45665095 chr21:45665533-45665545
23	PAX5	chr21:45665610-45666237	GM12878	blood:	n/a	n/a
24	NFIC	chr21:45664762-45666529	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:45665505-45666206	GM18951	blood:	n/a	n/a
26	POLR2A	chr21:45657802-45669043	PFSK-1	brain:	n/a	n/a
27	RUNX3	chr21:45664798-45666479	GM12878	blood:	n/a	n/a
28	POLR2A	chr21:45660624-45668864	GM12891	blood:	n/a	n/a
29	BATF	chr21:45665977-45666362	GM12878	blood:	n/a	n/a
30	MXI1	chr21:45665913-45666277	GM12878	blood:	n/a	n/a
31	RELA	chr21:45665170-45666061	GM18951	blood:	n/a	n/a
32	POLR2A	chr21:45665501-45666242	GM19193	blood:	n/a	n/a
33	EP300	chr21:45666035-45666344	GM12878	blood:	n/a	n/a
34	MTA3	chr21:45660829-45666640	GM12878	blood:	n/a	n/a
35	MAX	chr21:45665579-45666255	GM12878	blood:	n/a	chr21:45666086-45666095
36	EP300	chr21:45665855-45666415	GM12878	blood:	n/a	n/a
37	SPI1	chr21:45665859-45666438	GM12891	blood:	n/a	n/a
38	POLR2A	chr21:45664852-45666225	GM12878	blood:	n/a	n/a
39	STAT5A	chr21:45665896-45666322	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45665633-45666254	GM15510	blood:	n/a	n/a
41	ATF2	chr21:45665570-45666546	GM12878	blood:	n/a	n/a
42	PML	chr21:45660477-45666388	GM12878	blood:	n/a	chr21:45664300-45664308 chr21:45665810-45665818

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45665564..45668684-chr21:45670991..45675212,4	K562	blood:
2	chr21:45664753..45666308-chr21:45706084..45707885,2	MCF-7	breast:
3	chr21:45664806..45667207-chr21:45731638..45734076,2	K562	blood:
4	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
5	chr21:45665131..45666965-chr3:139933068..139935333,2	MCF-7	breast:
6	chr21:45665444..45667237-chr21:45710250..45712602,2	MCF-7	breast:
7	chr21:45586912..45588544-chr21:45664966..45667379,2	K562	blood:
8	chr21:45663828..45666335-chr21:45687884..45690743,2	MCF-7	breast:
9	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
10	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232010	TF binding region
ENSG00000232698	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2838514	1.00[ASN][1000 genomes]
rs2838523	1.00[ASN][1000 genomes]
rs378993	1.00[ASN][1000 genomes]
rs41277544	1.00[ASN][1000 genomes]
rs41277552	1.00[ASN][1000 genomes]
rs45566431	1.00[ASN][1000 genomes]
rs58940818	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738122	1.00[ASN][1000 genomes]
rs59829171	1.00[ASN][1000 genomes]
rs62220372	1.00[ASN][1000 genomes]
rs62220373	1.00[ASN][1000 genomes]
rs62220410	1.00[ASN][1000 genomes]
rs6518349	1.00[ASN][1000 genomes]
rs7276055	1.00[ASN][1000 genomes]
rs7277916	1.00[ASN][1000 genomes]
rs73381309	1.00[ASN][1000 genomes]
rs73381322	1.00[ASN][1000 genomes]
rs73381331	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
9	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
10	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
11	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	57 gene(s)	inside rSNPs	diseases
14	nsv913904	chr21:45636881-45700641	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv913905	chr21:45640629-45696025	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
17	nsv531555	chr21:45665972-45757659	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45661800-45668200	Enhancers	Liver	Liver
2	chr21:45662800-45667800	Weak transcription	Brain Anterior Caudate	brain
3	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
4	chr21:45663400-45666200	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:45663600-45670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr21:45663800-45668400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:45663800-45668400	Enhancers	HepG2	liver
8	chr21:45663800-45669600	Enhancers	Fetal Intestine Large	intestine
9	chr21:45664000-45666200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr21:45664000-45667800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:45664000-45671800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:45664200-45667000	Weak transcription	Esophagus	oesophagus
13	chr21:45664400-45667200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr21:45664400-45668200	Weak transcription	Gastric	stomach
15	chr21:45664400-45668400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:45664600-45667000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr21:45664600-45667200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:45664600-45667600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:45664600-45668000	Weak transcription	Hela-S3	cervix
20	chr21:45664600-45669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:45664600-45669800	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:45664800-45667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr21:45665000-45667000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr21:45665200-45666200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr21:45665200-45667200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr21:45665200-45667800	Weak transcription	HSMMtube	muscle
27	chr21:45665200-45668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr21:45665200-45669000	Enhancers	Primary B cells from cord blood	blood
29	chr21:45665400-45666400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr21:45665600-45669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45665600-45670400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:45665800-45666200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:45665800-45666400	Weak transcription	Fetal Intestine Small	intestine
34	chr21:45665800-45666800	Weak transcription	Spleen	Spleen
35	chr21:45665800-45668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:45665800-45669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr21:45666000-45666400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:45666000-45666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr21:45666000-45666400	Enhancers	GM12878-XiMat	blood
40	chr21:45666000-45666600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr21:45666000-45669200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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