Variant report

Variant	rs17618877
Chromosome Location	chr11:108379874-108379875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108366425..108370806-chr11:108379844..108383752,5	K562	blood:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10502102	1.00[JPT][hapmap]
rs10890850	1.00[JPT][hapmap]
rs11821101	1.00[JPT][hapmap]
rs17108175	1.00[JPT][hapmap]
rs17620252	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17620352	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1940213	1.00[JPT][hapmap]
rs2852190	1.00[JPT][hapmap]
rs57007024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119814	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17618877	KIAA1826	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108369600-108380800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:108369600-108381000	Weak transcription	Liver	Liver
3	chr11:108369600-108382200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:108369600-108384000	Weak transcription	Fetal Kidney	kidney
5	chr11:108370000-108380000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:108370400-108408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:108371800-108406400	Weak transcription	Gastric	stomach
8	chr11:108372000-108381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:108372000-108401200	Weak transcription	Esophagus	oesophagus
10	chr11:108372200-108381200	Weak transcription	HSMMtube	muscle
11	chr11:108372600-108380000	Weak transcription	NHEK	skin
12	chr11:108372800-108380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:108377600-108384400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:108378400-108380600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:108379000-108380800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:108379400-108380200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:108379400-108380200	ZNF genes & repeats	K562	blood
18	chr11:108379400-108380800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:108379600-108381200	Enhancers	HMEC	breast
20	chr11:108379800-108380000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:108379800-108380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:108379800-108389200	Strong transcription	Placenta	Placenta

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