Variant report

Variant	rs34717646
Chromosome Location	chr21:45189236-45189237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45138698..45141173-chr21:45188524..45191339,2	MCF-7	breast:
2	chr21:45180145..45181960-chr21:45187482..45190363,2	MCF-7	breast:
3	chr21:45138604..45142209-chr21:45185832..45189641,4	K562	blood:
4	chr21:45138604..45140816-chr21:45187453..45189641,2	K562	blood:
5	chr21:45186953..45189605-chr21:45526871..45528738,2	MCF-7	breast:
6	chr21:45188049..45190841-chr21:45206908..45209310,2	MCF-7	breast:
7	chr21:45122716..45124757-chr21:45189120..45191845,2	K562	blood:
8	chr21:45077926..45080845-chr21:45188689..45190434,2	K562	blood:
9	chr21:45181077..45183120-chr21:45187370..45189689,2	K562	blood:
10	chr21:45147228..45149882-chr21:45188263..45191287,3	K562	blood:
11	chr21:45188150..45190644-chr21:45201210..45202764,2	MCF-7	breast:
12	chr21:45077798..45080390-chr21:45188444..45191047,2	MCF-7	breast:
13	chr21:45181731..45183995-chr21:45186898..45189694,2	MCF-7	breast:
14	chr21:45188590..45190206-chr21:45212982..45214484,2	MCF-7	breast:
15	chr21:45177169..45178998-chr21:45188478..45190913,2	MCF-7	breast:
16	chr21:45078322..45080845-chr21:45187869..45190189,2	K562	blood:
17	chr21:45176799..45180649-chr21:45186150..45189373,7	K562	blood:
18	chr21:45187250..45190053-chr21:45278541..45281497,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160207	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909059	1.00[AMR][1000 genomes]
rs11909573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909727	1.00[AMR][1000 genomes]
rs11910571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910887	1.00[AMR][1000 genomes]
rs11911756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106483	1.00[AMR][1000 genomes]
rs34329830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34480572	1.00[AMR][1000 genomes]
rs34486226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35185076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35493534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737064	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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
6	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
7	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	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
9	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv459291	chr21:45175958-45191139	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv587717	chr21:45175958-45191139	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	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
21	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:45168800-45194000	Weak transcription	Right Atrium	heart
3	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
4	chr21:45174800-45194000	Weak transcription	Fetal Heart	heart
5	chr21:45176600-45192800	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45177000-45192600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr21:45177000-45193800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:45177000-45195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:45177200-45193000	Weak transcription	Dnd41	blood
10	chr21:45177800-45191800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr21:45178000-45193000	Weak transcription	Small Intestine	intestine
12	chr21:45178600-45192600	Weak transcription	Primary T cells from cord blood	blood
13	chr21:45179000-45192000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr21:45179000-45192400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:45179000-45193000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr21:45179200-45192400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr21:45179200-45192600	Weak transcription	Brain Germinal Matrix	brain
18	chr21:45179200-45192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr21:45179400-45192800	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:45179400-45193000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45179600-45192400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45181200-45193400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr21:45182200-45192800	Weak transcription	Brain Angular Gyrus	brain
24	chr21:45182400-45193000	Weak transcription	Fetal Brain Female	brain
25	chr21:45183200-45193400	Weak transcription	Aorta	Aorta
26	chr21:45183400-45193000	Weak transcription	Left Ventricle	heart
27	chr21:45183600-45192800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr21:45185400-45190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:45187200-45189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr21:45187400-45189400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr21:45187400-45193000	Weak transcription	Liver	Liver
32	chr21:45187400-45193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:45187400-45194400	Weak transcription	Fetal Lung	lung
34	chr21:45187600-45189400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:45187800-45189400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:45188000-45192400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr21:45188000-45193000	Weak transcription	Ovary	ovary
38	chr21:45188200-45191000	Weak transcription	Spleen	Spleen
39	chr21:45188200-45192600	Weak transcription	NHLF	lung
40	chr21:45188400-45192400	Weak transcription	Fetal Thymus	thymus
41	chr21:45188400-45192400	Weak transcription	Osteobl	bone
42	chr21:45188400-45192600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:45188400-45193400	Weak transcription	Pancreas	Pancrea
44	chr21:45188600-45189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:45188600-45189400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:45188600-45189400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:45188600-45190200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:45188600-45191000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr21:45188600-45191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:45188600-45191200	Weak transcription	HUVEC	blood vessel

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