Variant report

Variant	rs17004622
Chromosome Location	chr21:45472817-45472818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45430900..45434144-chr21:45470946..45474131,3	K562	blood:
2	chr21:45453079..45455479-chr21:45471617..45474018,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004624	0.95[AFR][1000 genomes]
rs17004625	0.90[AFR][1000 genomes]
rs34694890	1.00[AMR][1000 genomes]
rs57937156	1.00[AMR][1000 genomes]
rs58500824	1.00[AFR][1000 genomes]
rs59292357	1.00[AMR][1000 genomes]
rs59464702	1.00[AMR][1000 genomes]
rs60541190	1.00[AMR][1000 genomes]
rs7275604	1.00[ASW][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7277785	1.00[AMR][1000 genomes]
rs7277998	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs8127450	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:45457600-45474000	Weak transcription	A549	lung
7	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:45458000-45482800	Weak transcription	HMEC	breast
9	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:45459000-45474800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:45459400-45473400	Weak transcription	HepG2	liver
14	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
15	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:45460000-45474600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
21	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr21:45465800-45480000	Strong transcription	Dnd41	blood
24	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
25	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
27	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:45466200-45474000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:45468200-45475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:45468400-45475800	Weak transcription	Colonic Mucosa	Colon
32	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:45469000-45473000	Genic enhancers	Spleen	Spleen
35	chr21:45469000-45476600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:45469200-45473200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:45469200-45474400	Weak transcription	Fetal Kidney	kidney
40	chr21:45469200-45475000	Enhancers	Brain Angular Gyrus	brain
41	chr21:45469200-45475400	Weak transcription	Hela-S3	cervix
42	chr21:45469400-45475800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:45469800-45473000	Enhancers	Pancreas	Pancrea
46	chr21:45469800-45473600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:45469800-45474600	Weak transcription	HUVEC	blood vessel
48	chr21:45470000-45474400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:45470400-45475400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45470400-45478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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