Variant report

Variant	rs59461641
Chromosome Location	chr21:45198863-45198864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr21:45198823-45199136	K562	blood:	n/a	n/a
2	POLR2A	chr21:45198463-45199230	U87	brain:	n/a	n/a
3	POLR2A	chr21:45198749-45199181	K562	blood:	n/a	n/a
4	SPI1	chr21:45198765-45199125	GM12891	blood:	n/a	n/a
5	SPI1	chr21:45198839-45199043	K562	blood:	n/a	n/a
6	SP1	chr21:45198664-45199357	HCT-116	colon:	n/a	n/a
7	ELF1	chr21:45198584-45199210	K562	blood:	n/a	n/a
8	SPI1	chr21:45198763-45199169	GM12878	blood:	n/a	n/a
9	SPI1	chr21:45198764-45199332	HL-60	blood:	n/a	n/a
10	SPI1	chr21:45198706-45199220	GM12878	blood:	n/a	n/a
11	SPI1	chr21:45198752-45199151	K562	blood:	n/a	n/a
12	SPI1	chr21:45198794-45199228	HL-60	blood:	n/a	n/a
13	POLR2A	chr21:45198484-45199230	U87	brain:	n/a	n/a
14	MAZ	chr21:45198795-45199117	K562	blood:	n/a	n/a
15	POLR2A	chr21:45198533-45199063	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr21:45198578-45198944	K562	blood:	n/a	n/a
17	MAX	chr21:45198641-45199062	NB4	blood:	n/a	n/a
18	ELF1	chr21:45198455-45198868	GM12878	blood:	n/a	n/a
19	SPI1	chr21:45198807-45199158	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45195296..45199656-chr21:45201104..45204314,12	MCF-7	breast:
3	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
4	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM97P1	TF binding region
CSTB	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000234030	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs2070536	1.00[ASN][1000 genomes]
rs2070540	0.92[ASN][1000 genomes]
rs2073431	1.00[ASN][1000 genomes]
rs2276244	1.00[ASN][1000 genomes]
rs2838365	1.00[ASN][1000 genomes]
rs2838369	1.00[ASN][1000 genomes]
rs2838374	1.00[ASN][1000 genomes]
rs2838377	1.00[ASN][1000 genomes]
rs2838381	1.00[ASN][1000 genomes]
rs2838382	1.00[ASN][1000 genomes]
rs2838383	0.92[ASN][1000 genomes]
rs2838388	0.92[ASN][1000 genomes]
rs2838389	0.92[ASN][1000 genomes]
rs2838390	0.90[ASN][1000 genomes]
rs28691645	0.92[ASN][1000 genomes]
rs3819607	1.00[ASN][1000 genomes]
rs3819608	1.00[ASN][1000 genomes]
rs3819613	1.00[ASN][1000 genomes]
rs3819615	1.00[ASN][1000 genomes]
rs57450235	1.00[ASN][1000 genomes]
rs58078050	0.92[ASN][1000 genomes]
rs58464891	0.92[ASN][1000 genomes]
rs62229220	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62229223	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62229224	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62229227	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62229228	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66472331	0.92[ASN][1000 genomes]
rs66829381	1.00[ASN][1000 genomes]
rs66850181	1.00[ASN][1000 genomes]
rs67002472	0.92[ASN][1000 genomes]
rs67083338	0.92[ASN][1000 genomes]
rs67127915	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157971	0.84[ASN][1000 genomes]
rs67443123	0.92[ASN][1000 genomes]
rs67883823	0.92[ASN][1000 genomes]
rs73224966	1.00[ASN][1000 genomes]
rs73224970	0.92[ASN][1000 genomes]
rs73224973	0.92[ASN][1000 genomes]
rs73224979	0.90[ASN][1000 genomes]
rs73224984	0.86[ASN][1000 genomes]
rs73367288	0.92[ASN][1000 genomes]
rs73367302	0.86[ASN][1000 genomes]
rs73379004	1.00[ASN][1000 genomes]
rs73379033	1.00[ASN][1000 genomes]
rs73379037	1.00[ASN][1000 genomes]
rs73379050	0.92[ASN][1000 genomes]
rs73379055	0.92[ASN][1000 genomes]
rs73379058	0.92[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	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	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
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45199400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr21:45196800-45199600	Weak transcription	Right Ventricle	heart
3	chr21:45196800-45199800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:45196800-45200600	Weak transcription	NHEK	skin
5	chr21:45196800-45201000	Weak transcription	Fetal Intestine Large	intestine
6	chr21:45196800-45202000	Weak transcription	Liver	Liver
7	chr21:45196800-45203000	Weak transcription	Lung	lung
8	chr21:45196800-45206400	Weak transcription	Gastric	stomach
9	chr21:45196800-45206400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
12	chr21:45197000-45200000	Enhancers	Dnd41	blood
13	chr21:45197000-45200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:45197400-45200000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:45197600-45199200	Enhancers	K562	blood
16	chr21:45197600-45200000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:45197800-45199000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr21:45197800-45199200	Enhancers	Primary T cells from cord blood	blood
19	chr21:45197800-45199800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:45198000-45199000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:45198000-45199000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:45198000-45199000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr21:45198000-45199000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:45198000-45199000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr21:45198000-45199000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:45198000-45199000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr21:45198000-45199000	Enhancers	A549	lung
28	chr21:45198000-45199200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr21:45198000-45199200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:45198000-45199200	Flanking Active TSS	HepG2	liver
31	chr21:45198000-45199200	Enhancers	HMEC	breast
32	chr21:45198000-45199400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr21:45198000-45199800	Enhancers	Fetal Thymus	thymus
34	chr21:45198000-45200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr21:45198200-45199000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45198200-45199000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:45198200-45199000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr21:45198200-45199000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:45198200-45199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:45198200-45199000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:45198200-45199000	Enhancers	Fetal Intestine Small	intestine
42	chr21:45198200-45199000	Enhancers	Stomach Mucosa	stomach
43	chr21:45198200-45199200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:45198200-45199200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:45198200-45199400	Enhancers	Primary B cells from cord blood	blood
46	chr21:45198200-45200800	Enhancers	GM12878-XiMat	blood
47	chr21:45198400-45199000	Enhancers	Primary hematopoietic stem cells	blood
48	chr21:45198400-45199000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:45198400-45199000	Flanking Active TSS	Colonic Mucosa	Colon
50	chr21:45198400-45199000	Enhancers	Placenta	Placenta

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