Variant report

Variant	rs16889105
Chromosome Location	chr8:117882864-117882865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a
2	BRCA1	chr8:117882709-117883303	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117882042..117883991-chr8:117888629..117890364,2	K562	blood:

Variant related genes	Relation type
RAD21-AS1	TF binding region
RAD21	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11786746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811924	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4298513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424294	0.98[ASN][1000 genomes]
rs57077968	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
2	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
3	chr8:117864400-117885800	Weak transcription	Gastric	stomach
4	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
5	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
6	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
7	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
10	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
17	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
21	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:117878600-117884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:117878800-117883000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:117879000-117883200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:117879000-117883200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:117879000-117884400	Enhancers	A549	lung
30	chr8:117879000-117884600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:117879000-117884600	Weak transcription	Brain Substantia Nigra	brain
32	chr8:117879600-117883600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:117879600-117884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:117879800-117884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:117879800-117884600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:117880000-117884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:117880200-117884200	Weak transcription	Brain Anterior Caudate	brain
40	chr8:117880200-117884800	Weak transcription	Brain Angular Gyrus	brain
41	chr8:117880400-117883000	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:117880400-117883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:117880600-117883000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:117880600-117883200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:117880600-117883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:117880600-117884200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr8:117880600-117884200	Weak transcription	Aorta	Aorta
48	chr8:117880800-117883800	Enhancers	HSMM	muscle
49	chr8:117880800-117884400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:117881000-117883400	Enhancers	Primary T cells fromperipheralblood	blood

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