Variant report

Variant	rs9974767
Chromosome Location	chr21:45510495-45510496
allele	G/T
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	POLR2A	chr21:45510235-45510735	HL-60	blood:	n/a	n/a
2	POLR2A	chr21:45510252-45510581	K562	blood:	n/a	n/a
3	ZEB1	chr21:45510363-45510625	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45506107..45508081-chr21:45508290..45511239,2	K562	blood:

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2020943	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071144	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071145	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2227265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838465	0.86[ASN][1000 genomes]
rs2838470	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838479	0.89[ASN][1000 genomes]
rs2838484	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838487	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838495	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838497	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28834388	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57812760	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57855582	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60503863	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61689295	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62226718	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62226719	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62226722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7275501	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7282644	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73909115	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128926	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9284512	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306175	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975436	0.84[EUR][1000 genomes]
rs9977122	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9977460	0.84[ASN][1000 genomes]
rs9978109	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9978772	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9979931	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9980021	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9982695	0.84[EUR][1000 genomes]
rs9982907	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9983551	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983596	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9984876	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45481600-45510800	Strong transcription	Dnd41	blood
3	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
5	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45491200-45510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:45491400-45514600	Strong transcription	Osteobl	bone
8	chr21:45491600-45514600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:45492600-45510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:45493000-45510800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr21:45493400-45514800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:45493600-45510800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:45493600-45510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr21:45493600-45515000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:45493800-45514400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:45494000-45510800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:45496200-45510800	Strong transcription	Fetal Brain Female	brain
19	chr21:45496200-45514200	Strong transcription	Brain Germinal Matrix	brain
20	chr21:45496200-45514600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr21:45497400-45514600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:45498000-45512400	Strong transcription	HMEC	breast
23	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:45498600-45511000	Strong transcription	HepG2	liver
25	chr21:45498600-45512400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:45498600-45523800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:45498800-45510800	Strong transcription	NH-A	brain
28	chr21:45499000-45523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr21:45499000-45524000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:45503400-45514600	Genic enhancers	Fetal Intestine Small	intestine
31	chr21:45503600-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:45504000-45510600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
33	chr21:45504200-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:45504600-45510800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45504600-45514400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:45504600-45524800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr21:45504800-45510800	Genic enhancers	Fetal Thymus	thymus
38	chr21:45504800-45514400	Strong transcription	Fetal Muscle Leg	muscle
39	chr21:45505000-45510600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45505000-45510800	Strong transcription	Esophagus	oesophagus
41	chr21:45505000-45514200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr21:45505200-45510800	Strong transcription	NHLF	lung
43	chr21:45505200-45524200	Strong transcription	Fetal Stomach	stomach
44	chr21:45506000-45510600	Genic enhancers	Spleen	Spleen
45	chr21:45506000-45512400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:45506600-45510600	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr21:45506600-45510800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr21:45506600-45510800	Strong transcription	Aorta	Aorta
49	chr21:45506600-45510800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr21:45506600-45513200	Strong transcription	H9 Cell Line	embryonic stem cell

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