Variant report

Variant	rs17004541
Chromosome Location	chr21:44807881-44807882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
2	chr21:44802031..44804189-chr21:44807658..44809517,2	MCF-7	breast:
3	chr21:44784945..44787524-chr21:44806309..44807951,2	MCF-7	breast:
4	chr21:44806841..44809351-chr21:44845698..44847405,2	K562	blood:
5	chr21:44807851..44810018-chr21:44845050..44848247,3	K562	blood:
6	chr21:44797612..44800275-chr21:44807773..44810718,2	K562	blood:
7	chr21:44780389..44782566-chr21:44805407..44807925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237989	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004540	1.00[ASN][1000 genomes]
rs17004542	1.00[ASN][1000 genomes]
rs17004573	1.00[CEU][hapmap]
rs28578700	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682938	1.00[EUR][1000 genomes]
rs9976926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981488	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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	82 gene(s)	inside rSNPs	diseases
16	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
17	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44795400-44814200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44800200-44808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:44800400-44814200	Weak transcription	Hela-S3	cervix
5	chr21:44802600-44810000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:44803000-44809200	Enhancers	Fetal Brain Male	brain
7	chr21:44803400-44808000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:44804400-44819000	Weak transcription	Gastric	stomach
9	chr21:44804600-44808200	Enhancers	HMEC	breast
10	chr21:44806200-44808400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:44806400-44808400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:44806600-44808200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:44806600-44808200	Enhancers	Spleen	Spleen
14	chr21:44806600-44808400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:44806600-44808400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:44806600-44808400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:44806600-44814600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr21:44806800-44808400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:44806800-44808400	Enhancers	Esophagus	oesophagus
20	chr21:44806800-44808400	Enhancers	NHEK	skin
21	chr21:44807000-44808000	Enhancers	Brain Hippocampus Middle	brain
22	chr21:44807000-44808000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr21:44807000-44808400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:44807000-44808400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:44807000-44808400	Enhancers	Fetal Muscle Leg	muscle
26	chr21:44807200-44808000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr21:44807200-44808200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr21:44807200-44808200	Enhancers	Fetal Lung	lung
29	chr21:44807200-44808400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:44807400-44808000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:44807400-44808200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr21:44807400-44808200	Enhancers	Brain Anterior Caudate	brain
33	chr21:44807400-44808200	Flanking Active TSS	Fetal Brain Female	brain
34	chr21:44807400-44808200	Enhancers	Fetal Intestine Large	intestine
35	chr21:44807400-44808400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr21:44807400-44808400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:44807400-44808400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:44807400-44808400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:44807400-44808400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr21:44807400-44808400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:44807600-44808000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr21:44807600-44808000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:44807600-44814600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:44807800-44808000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr21:44807800-44808000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr21:44807800-44808400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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