Variant report

Variant	rs1009834
Chromosome Location	chr1:211872088-211872089
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211871766..211872437-chr1:212628934..212629488,2	K562	blood:
2	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
3	chr1:211872037..211874391-chr1:211908147..211910585,2	MCF-7	breast:
4	chr1:211871611..211872531-chr1:212003664..212004660,3	MCF-7	breast:
5	chr1:211871592..211872542-chr1:212003704..212004641,4	K562	blood:
6	chr1:211871408..211872238-chr1:212117782..212118707,5	MCF-7	breast:
7	chr1:211871693..211872486-chr1:212003719..212004352,3	MCF-7	breast:
8	chr1:211871610..211872409-chr1:212207948..212208483,2	K562	blood:
9	chr1:211871629..211872244-chr1:212118224..212119112,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229258	Chromatin interaction
ENSG00000123684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10158205	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10159325	0.81[CHB][hapmap]
rs11119791	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11119793	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12027312	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12037104	0.89[EUR][1000 genomes]
rs12037708	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12039766	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12040695	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12569332	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17490409	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2230489	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3820371	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7516751	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7553543	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211867800-211873000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:211868000-211872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:211868400-211872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:211870400-211872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:211870600-211872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:211870800-211872400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:211871000-211872200	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:211871000-211872400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:211871000-211872400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:211871600-211872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:211871600-211872200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:211871600-211872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:211871600-211872200	Active TSS	Hela-S3	cervix
14	chr1:211871600-211872400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:211871600-211872400	Enhancers	Brain Angular Gyrus	brain
16	chr1:211871600-211872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:211871600-211872600	Enhancers	Spleen	Spleen
18	chr1:211871600-211872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:211871600-211872800	Enhancers	A549	lung
20	chr1:211871800-211872200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:211871800-211872200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:211871800-211872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:211871800-211872200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:211871800-211872200	Enhancers	Liver	Liver
25	chr1:211871800-211872200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:211871800-211872200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr1:211871800-211872200	Enhancers	Fetal Intestine Large	intestine
28	chr1:211871800-211872200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr1:211871800-211872200	Enhancers	Placenta	Placenta
30	chr1:211871800-211872200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:211871800-211872200	ZNF genes & repeats	Right Atrium	heart
32	chr1:211871800-211872200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:211871800-211872200	Enhancers	Stomach Mucosa	stomach
34	chr1:211871800-211872200	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:211871800-211872400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:211871800-211872400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:211871800-211872400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:211871800-211872400	Active TSS	Right Ventricle	heart
39	chr1:211871800-211872600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:211871800-211872600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:211871800-211872800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:211871800-211872800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:211871800-211872800	Enhancers	Fetal Heart	heart
44	chr1:211872000-211872200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:211872000-211872200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:211872000-211872200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:211872000-211872200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr1:211872000-211872200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr1:211872000-211872200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:211872000-211872200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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