Variant report

Variant	rs9982976
Chromosome Location	chr21:16435223-16435224
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	ZNF143	chr21:16434988-16435274	GM12878	blood:	n/a	n/a
2	MYC	chr21:16434186-16435332	K562	blood:	n/a	n/a
3	CTCF	chr21:16435080-16435230	HVMF	connective:	n/a	n/a
4	RAD21	chr21:16434958-16435226	SK-N-SH_RA	brain:	n/a	chr21:16435070-16435089
5	TBL1XR1	chr21:16434408-16435291	K562	blood:	n/a	n/a
6	CTCF	chr21:16435140-16435290	HCM	heart:	n/a	n/a
7	EP300	chr21:16434988-16435393	GM12878	blood:	n/a	n/a
8	STAT3	chr21:16435052-16435238	GM12878	blood:	n/a	n/a
9	POLR2A	chr21:16433055-16438919	MCF-7	breast:	n/a	n/a
10	TBP	chr21:16435013-16435404	GM12878	blood:	n/a	n/a
11	CTCF	chr21:16434898-16435257	GM12878	blood:	n/a	chr21:16435071-16435092
12	RAD21	chr21:16434876-16435309	Hela-S3	cervix:	n/a	chr21:16435070-16435089
13	RAD21	chr21:16434946-16435247	GM12878	blood:	n/a	chr21:16435070-16435089
14	POLR2A	chr21:16434935-16435291	U87	brain:	n/a	n/a
15	MXI1	chr21:16435175-16435434	HepG2	liver:	n/a	n/a
16	RAD21	chr21:16434795-16435344	MCF-7	breast:	n/a	chr21:16435070-16435089
17	RAD21	chr21:16434900-16435297	HepG2	liver:	n/a	chr21:16435070-16435089
18	GATA1	chr21:16434176-16435653	PBDE	blood:	n/a	chr21:16434233-16434245 chr21:16434235-16434242
19	RAD21	chr21:16434910-16435246	HepG2	liver:	n/a	chr21:16435070-16435089
20	CTCF	chr21:16434720-16435255	K562	blood:	n/a	chr21:16435071-16435092
21	SIN3AK20	chr21:16435124-16436828	MCF-7	breast:	n/a	n/a
22	SMC3	chr21:16434976-16435242	GM12878	blood:	n/a	n/a
23	ZNF263	chr21:16435014-16436704	HEK293-T-REx	kidney:	n/a	chr21:16435484-16435505
24	UBTF	chr21:16434994-16438472	K562	blood:	n/a	n/a
25	POLR2A	chr21:16435104-16435811	HepG2	liver:	n/a	n/a
26	CTCF	chr21:16435080-16435230	HMEC	breast:	n/a	n/a
27	SMC3	chr21:16434846-16436989	Hela-S3	cervix:	n/a	chr21:16436459-16436469

No.	Distal block	Cell Line	Cell type
1	chr21:16245453..16248261-chr21:16433985..16435650,2	MCF-7	breast:
2	chr21:16434967..16437063-chr21:16711446..16713527,2	MCF-7	breast:
3	chr21:16356082..16358745-chr21:16434038..16436986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1041404	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13052454	0.85[ASN][1000 genomes]
rs1997577	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2026848	0.85[ASN][1000 genomes]
rs2142218	0.86[AFR][1000 genomes]
rs2142219	0.85[ASN][1000 genomes]
rs2823017	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2823022	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2823027	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2823029	0.90[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7280064	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs8133012	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16424400-16435400	Weak transcription	Gastric	stomach
2	chr21:16429000-16439200	Active TSS	A549	lung
3	chr21:16430000-16435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:16430000-16435400	Weak transcription	Pancreas	Pancrea
5	chr21:16430000-16436000	Weak transcription	Aorta	Aorta
6	chr21:16430000-16436000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:16430200-16435400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:16430400-16435400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr21:16431400-16435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:16432400-16435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:16432600-16436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr21:16432800-16435400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr21:16432800-16435400	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:16432800-16435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
16	chr21:16433000-16435600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:16433000-16435800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr21:16433000-16439200	Active TSS	Right Atrium	heart
19	chr21:16433400-16435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:16433400-16439000	Active TSS	Psoas Muscle	Psoas
21	chr21:16433600-16435800	Flanking Active TSS	HUVEC	blood vessel
22	chr21:16433600-16436000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr21:16433600-16436200	Flanking Active TSS	Dnd41	blood
24	chr21:16433800-16435400	Weak transcription	Left Ventricle	heart
25	chr21:16433800-16435400	Weak transcription	Small Intestine	intestine
26	chr21:16433800-16435600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:16433800-16436200	Weak transcription	Spleen	Spleen
28	chr21:16433800-16439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:16433800-16439000	Active TSS	HSMM	muscle
30	chr21:16434200-16435400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:16434200-16435400	Enhancers	Brain Substantia Nigra	brain
32	chr21:16434200-16435600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr21:16434200-16435800	Enhancers	Fetal Heart	heart
34	chr21:16434200-16436200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:16434200-16438600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:16434200-16439000	Active TSS	Rectal Smooth Muscle	rectum
37	chr21:16434400-16435400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr21:16434400-16435400	Weak transcription	Stomach Mucosa	stomach
39	chr21:16434400-16435600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr21:16434400-16435600	Active TSS	HepG2	liver
41	chr21:16434400-16436800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr21:16434400-16439000	Active TSS	Colonic Mucosa	Colon
43	chr21:16434400-16439000	Active TSS	Right Ventricle	heart
44	chr21:16434600-16435400	Active TSS	Duodenum Mucosa	Duodenum
45	chr21:16434600-16436400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:16434600-16438800	Active TSS	Fetal Thymus	thymus
47	chr21:16434600-16438800	Active TSS	Thymus	Thymus
48	chr21:16434600-16439000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:16434600-16439000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:16434600-16439000	Active TSS	Fetal Intestine Large	intestine

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