Variant report

Variant	rs8082842
Chromosome Location	chr18:9814778-9814779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:

Variant related genes	Relation type
ENSG00000242651	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11872226	1.00[CHB][hapmap]
rs12455645	1.00[JPT][hapmap]
rs12958417	1.00[CHB][hapmap]
rs2191618	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2215498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299841	1.00[JPT][hapmap]
rs56007372	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
7	esv3372565	chr18:9813252-9818150	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3490316	chr18:9814052-9817250	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3377423	chr18:9814502-9817300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3490312	chr18:9814602-9817100	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv9607	chr18:9814637-9816374	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8082842	KIAA0802	cis	parietal	SCAN
rs8082842	CIDEA	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:9809200-9824800	Weak transcription	Lung	lung
11	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
12	chr18:9809400-9815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
15	chr18:9809400-9816000	Weak transcription	NHEK	skin
16	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
17	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:9809600-9824400	Weak transcription	HMEC	breast
19	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
20	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
21	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:9810200-9824000	Weak transcription	Ovary	ovary
23	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
24	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
25	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
32	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:9811400-9815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:9811400-9817000	Weak transcription	Left Ventricle	heart
36	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
38	chr18:9811600-9816200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:9811800-9816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
41	chr18:9812400-9815000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr18:9813000-9815200	Enhancers	NHDF-Ad	bronchial
47	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
48	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr18:9813600-9815200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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