Variant report

Variant	rs73231203
Chromosome Location	chr21:45667484-45667485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45667460-45667610	GM12864	blood:	n/a	n/a
2	CTCF	chr21:45667400-45667550	HepG2	liver:	n/a	chr21:45667430-45667443
3	CTCF	chr21:45667420-45667623	GM12878	blood:	n/a	chr21:45667430-45667443
4	YY1	chr21:45667435-45667764	GM12878	blood:	n/a	n/a
5	CTCF	chr21:45667420-45667675	GM12892	blood:	n/a	chr21:45667430-45667443
6	TCF3	chr21:45667164-45668872	GM12878	blood:	n/a	chr21:45667626-45667635 chr21:45667875-45667885 chr21:45667505-45667518 chr21:45667594-45667607 chr21:45667503-45667513 chr21:45668130-45668143
7	CTCF	chr21:45667460-45667610	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr21:45667420-45667570	GM12875	blood:	n/a	chr21:45667430-45667443
9	CTCF	chr21:45667468-45667673	K562	blood:	n/a	n/a
10	RAD21	chr21:45667474-45667666	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr21:45664908-45668879	Raji	blood:	n/a	n/a
12	CTCF	chr21:45667400-45667550	GM12870	blood:	n/a	chr21:45667430-45667443
13	POLR2A	chr21:45666927-45668682	GM12878	blood:	n/a	n/a
14	MXI1	chr21:45667417-45667616	GM12878	blood:	n/a	n/a
15	CTCF	chr21:45667440-45667590	HRE	kidney:	n/a	n/a
16	CTCF	chr21:45667460-45667610	GM12874	blood:	n/a	n/a
17	TCF12	chr21:45667218-45668150	GM12878	blood:	n/a	chr21:45668133-45668143 chr21:45667682-45667690
18	POLR2A	chr21:45664912-45668896	GM12878	blood:	n/a	n/a
19	MAZ	chr21:45667071-45668556	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668190-45668197 chr21:45667307-45667318 chr21:45668189-45668198
20	CTCF	chr21:45667483-45667590	NHEK	skin:	n/a	n/a
21	TCF12	chr21:45667269-45668568	GM12878	blood:	n/a	chr21:45668133-45668143 chr21:45667682-45667690
22	EP300	chr21:45667297-45668565	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668525-45668534
23	CTCF	chr21:45667360-45667510	GM12871	blood:	n/a	chr21:45667430-45667443
24	CTCF	chr21:45667480-45667630	GM12865	blood:	n/a	n/a
25	CTCF	chr21:45667460-45667610	GM12868	blood:	n/a	n/a
26	CTCF	chr21:45667417-45667711	K562	blood:	n/a	chr21:45667430-45667443
27	SIN3A	chr21:45667441-45667609	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr21:45667335-45667732	GM12878	blood:	n/a	chr21:45667430-45667443
29	NFATC1	chr21:45667343-45668793	GM12878	blood:	n/a	n/a
30	EP300	chr21:45667392-45667598	GM12878	blood:	n/a	n/a
31	CTCF	chr21:45667442-45667614	GM10266	blood:	n/a	n/a
32	STAT5A	chr21:45666953-45669176	GM12878	blood:	n/a	chr21:45667809-45667821 chr21:45668142-45668154 chr21:45667300-45667308 chr21:45667734-45667746
33	EP300	chr21:45667392-45667633	GM12878	blood:	n/a	n/a
34	RAD21	chr21:45667365-45667686	GM12878	blood:	n/a	n/a
35	MAX	chr21:45667321-45668557	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668190-45668197 chr21:45668312-45668322 chr21:45668189-45668198
36	CTCF	chr21:45667480-45667630	GM12801	blood:	n/a	n/a
37	CTCF	chr21:45667440-45667590	GM12873	blood:	n/a	n/a
38	RUNX3	chr21:45667087-45667658	GM12878	blood:	n/a	n/a
39	CTCF	chr21:45667440-45667590	WERI-Rb-1	eye:	n/a	n/a
40	ZEB1	chr21:45667387-45667801	GM12878	blood:	n/a	chr21:45667761-45667768 chr21:45667601-45667608
41	BHLHE40	chr21:45667366-45668621	GM12878	blood:	n/a	n/a
42	CTCF	chr21:45667440-45667590	GM12864	blood:	n/a	n/a
43	CTCF	chr21:45667461-45667591	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr21:45667480-45667630	GM12872	blood:	n/a	n/a
45	JUND	chr21:45667230-45667527	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr21:45667420-45667570	GM12872	blood:	n/a	chr21:45667430-45667443
47	CTCF	chr21:45667420-45667570	GM12867	blood:	n/a	chr21:45667430-45667443
48	CTCF	chr21:45667451-45667637	GM13977	blood:	n/a	n/a
49	POLR2A	chr21:45658587-45668327	PFSK-1	brain:	n/a	n/a
50	RAD21	chr21:45667435-45667595	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45665564..45668684-chr21:45670991..45675212,4	K562	blood:
2	chr21:45615502..45617869-chr21:45667459..45670293,2	K562	blood:
3	chr21:45553033..45555286-chr21:45666836..45668828,2	MCF-7	breast:
4	chr21:45567022..45569875-chr21:45667189..45669320,3	MCF-7	breast:
5	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
6	chr21:45667184..45669344-chr21:45671448..45673018,2	K562	blood:
7	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
8	chr21:45557344..45559902-chr21:45666476..45668676,2	MCF-7	breast:
9	chr21:45566968..45567805-chr21:45667309..45667823,2	MCF-7	breast:
10	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
11	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
12	chr21:45667126..45669380-chr21:45704242..45707201,2	MCF-7	breast:
13	chr21:45666127..45668389-chr21:45719214..45721202,2	K562	blood:
14	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232010	TF binding region
ENSG00000160221	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000232698	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1005078	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11702785	1.00[AFR][1000 genomes]
rs2014264	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186930	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788111	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62228255	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876200	0.82[AMR][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:49 , 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	chr21:45663600-45670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr21:45663800-45668400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45663800-45668400	Enhancers	HepG2	liver
7	chr21:45663800-45669600	Enhancers	Fetal Intestine Large	intestine
8	chr21:45664000-45667800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:45664000-45671800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:45664400-45668200	Weak transcription	Gastric	stomach
11	chr21:45664400-45668400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:45664600-45667600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr21:45664600-45668000	Weak transcription	Hela-S3	cervix
14	chr21:45664600-45669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:45664600-45669800	Enhancers	Primary B cells from peripheral blood	blood
16	chr21:45665200-45667800	Weak transcription	HSMMtube	muscle
17	chr21:45665200-45668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:45665200-45669000	Enhancers	Primary B cells from cord blood	blood
19	chr21:45665600-45669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:45665600-45670400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:45665800-45668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:45665800-45669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:45666000-45669200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:45666200-45667800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45666200-45681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr21:45666400-45669600	Enhancers	Fetal Intestine Small	intestine
27	chr21:45666600-45667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:45666600-45669600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr21:45666600-45669600	Enhancers	Fetal Thymus	thymus
30	chr21:45666800-45667600	Enhancers	Spleen	Spleen
31	chr21:45666800-45668200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr21:45666800-45669600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr21:45666800-45670000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:45667000-45667800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr21:45667000-45667800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr21:45667000-45668400	Flanking Active TSS	GM12878-XiMat	blood
37	chr21:45667000-45669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:45667000-45669200	Enhancers	Duodenum Mucosa	Duodenum
39	chr21:45667000-45670800	Enhancers	Esophagus	oesophagus
40	chr21:45667200-45667800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr21:45667200-45668400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:45667200-45668400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:45667400-45667600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr21:45667400-45668000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:45667400-45668000	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr21:45667400-45670000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:45667400-45670200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:45667400-45670200	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr21:45667400-45670400	Bivalent Enhancer	Placenta	Placenta

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