Variant report

Variant	rs8129776
Chromosome Location	chr21:45669629-45669630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:45669244-45669770	K562	blood:	n/a	n/a
2	NR2F2	chr21:45668821-45669951	MCF-7	breast:	n/a	n/a
3	FOXA2	chr21:45669146-45669659	HepG2	liver:	n/a	n/a
4	MYBL2	chr21:45668925-45670023	HepG2	liver:	n/a	n/a
5	HNF4G	chr21:45668989-45669805	HepG2	liver:	n/a	chr21:45669352-45669367
6	FOSL2	chr21:45668752-45669847	HepG2	liver:	n/a	n/a
7	CEBPB	chr21:45669391-45669720	K562	blood:	n/a	n/a
8	EP300	chr21:45669074-45669711	Hela-S3	cervix:	n/a	n/a
9	HA-E2F1	chr21:45669060-45669764	MCF-7	breast:	n/a	n/a
10	RFX5	chr21:45668997-45669636	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr21:45668811-45670898	HepG2	liver:	n/a	n/a
12	TCF12	chr21:45669021-45669672	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:45669484-45670618	GM12878	blood:	n/a	n/a
14	KAP1	chr21:45669061-45669846	U2OS	brain:	n/a	n/a
15	CHD2	chr21:45669201-45670616	HepG2	liver:	n/a	n/a
16	EP300	chr21:45668918-45669693	HepG2	liver:	n/a	n/a
17	NFIC	chr21:45668934-45669890	HepG2	liver:	n/a	n/a
18	SMC3	chr21:45668850-45669735	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr21:45669355-45669743	K562	blood:	n/a	n/a
20	MAX	chr21:45668778-45670547	NB4	blood:	n/a	n/a
21	JUND	chr21:45669111-45669760	K562	blood:	n/a	chr21:45669134-45669145
22	FOXA1	chr21:45668999-45669808	HepG2	liver:	n/a	n/a
23	MAX	chr21:45668035-45671533	HepG2	liver:	n/a	chr21:45670641-45670656 chr21:45668190-45668197 chr21:45668312-45668322 chr21:45670637-45670647 chr21:45668189-45668198
24	HDAC2	chr21:45668774-45669803	HepG2	liver:	n/a	n/a
25	POLR2A	chr21:45669080-45670702	HepG2	liver:	n/a	n/a
26	TBP	chr21:45669155-45670594	HepG2	liver:	n/a	n/a
27	TAF1	chr21:45669131-45669878	HepG2	liver:	n/a	n/a
28	TBL1XR1	chr21:45669373-45669748	K562	blood:	n/a	n/a
29	MAFF	chr21:45668938-45670456	HepG2	liver:	n/a	chr21:45669151-45669169
30	ZBTB7A	chr21:45669384-45669698	HepG2	liver:	n/a	n/a
31	MBD4	chr21:45669079-45669795	HepG2	liver:	n/a	n/a
32	MAX	chr21:45669010-45669747	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr21:45669434-45669794	MCF-7	breast:	n/a	n/a
34	CEBPB	chr21:45669438-45669836	MCF-7	breast:	n/a	n/a
35	MAX	chr21:45669038-45669951	MCF-7	breast:	n/a	n/a
36	KAP1	chr21:45669026-45669867	HEK293	kidney:	n/a	n/a
37	ARID3A	chr21:45668904-45669828	HepG2	liver:	n/a	n/a
38	BRCA1	chr21:45669540-45669776	HepG2	liver:	n/a	n/a
39	BHLHE40	chr21:45669183-45669758	K562	blood:	n/a	n/a
40	EP300	chr21:45668938-45669822	HepG2	liver:	n/a	n/a
41	HNF4A	chr21:45668878-45669754	HepG2	liver:	n/a	chr21:45669280-45669295
42	JUND	chr21:45668884-45669774	HepG2	liver:	n/a	chr21:45669134-45669145
43	JUND	chr21:45669044-45669725	HepG2	liver:	n/a	chr21:45669134-45669145
44	RFX5	chr21:45668934-45670007	HepG2	liver:	n/a	n/a
45	CCNT2	chr21:45669420-45669659	K562	blood:	n/a	n/a
46	ATF3	chr21:45669179-45669683	HepG2	liver:	n/a	n/a
47	RXRA	chr21:45668982-45669864	HepG2	liver:	n/a	n/a
48	CEBPB	chr21:45669402-45669771	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr21:45669201-45669637	K562	blood:	n/a	n/a
50	MXI1	chr21:45668941-45670753	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45561526..45563066-chr21:45668037..45670470,2	MCF-7	breast:
2	chr21:45615502..45617869-chr21:45667459..45670293,2	K562	blood:
3	chr21:45561902..45563640-chr21:45668717..45670497,2	MCF-7	breast:
4	chr21:45566713..45567664-chr21:45669117..45669820,2	MCF-7	breast:
5	chr21:45610778..45612309-chr21:45667999..45669878,2	MCF-7	breast:
6	chr21:45622485..45624278-chr21:45668242..45670471,2	MCF-7	breast:
7	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
8	chr21:45661313..45662834-chr21:45667668..45669826,2	K562	blood:
9	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
10	chr21:45643593..45646374-chr21:45668943..45670468,2	K562	blood:
11	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
12	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2026880	0.89[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2070565	0.85[CEU][hapmap]
rs8129767	0.84[EUR][1000 genomes]
rs9306177	0.87[ASN][1000 genomes]
rs9980169	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
18	nsv526276	chr21:45668171-45670770	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv587741	chr21:45668171-45683350	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv587742	chr21:45668171-45703660	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv913907	chr21:45668171-45740823	Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8129776	PTTG1IP	cis	parietal	SCAN
rs8129776	PFKL	cis	parietal	SCAN
rs8129776	POFUT2	cis	parietal	SCAN
rs8129776	PKNOX1	cis	cerebellum	SCAN
rs8129776	PTTG1IP	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45663600-45670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:45664000-45671800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:45664600-45669800	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:45665600-45670400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:45666200-45681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:45666800-45670000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:45667000-45670800	Enhancers	Esophagus	oesophagus
9	chr21:45667400-45670000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45667400-45670200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45667400-45670200	Bivalent Enhancer	Colonic Mucosa	Colon
12	chr21:45667400-45670400	Bivalent Enhancer	Placenta	Placenta
13	chr21:45667800-45669800	Enhancers	HSMMtube	muscle
14	chr21:45667800-45670000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:45667800-45670600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:45668000-45671000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:45668200-45669800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:45668200-45670000	Enhancers	Gastric	stomach
19	chr21:45668200-45670200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr21:45668200-45670200	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr21:45668200-45670400	Enhancers	Pancreas	Pancrea
22	chr21:45668400-45669800	Flanking Active TSS	HepG2	liver
23	chr21:45668400-45670000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:45668400-45670000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:45668400-45670000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr21:45668400-45670000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr21:45668400-45670200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr21:45668400-45670200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr21:45668400-45670400	Enhancers	Spleen	Spleen
30	chr21:45668600-45669800	Flanking Active TSS	Hela-S3	cervix
31	chr21:45668600-45670000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr21:45668600-45670000	Enhancers	K562	blood
33	chr21:45668600-45677000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:45668800-45670000	Enhancers	Adipose Nuclei	Adipose
35	chr21:45668800-45670400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45669000-45670000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:45669000-45670200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr21:45669000-45670200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr21:45669000-45670400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:45669000-45670600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr21:45669200-45669800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:45669200-45669800	Enhancers	Liver	Liver
43	chr21:45669200-45670000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr21:45669200-45670200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:45669200-45670400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr21:45669200-45670400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:45669400-45669800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr21:45669400-45670000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr21:45669400-45670000	Enhancers	Primary B cells from cord blood	blood
50	chr21:45669400-45670000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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