Variant report

Variant	rs4114169
Chromosome Location	chr8:108456805-108456806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086241	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10086336	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10086467	0.80[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.97[ASN][1000 genomes]
rs10091818	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955455	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs10955456	0.87[ASN][1000 genomes]
rs12541987	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546710	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13439018	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13439823	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433165	0.80[CHD][hapmap];0.90[JPT][hapmap]
rs1433166	0.90[JPT][hapmap]
rs1433167	0.90[JPT][hapmap]
rs1433172	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1433185	0.89[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1433187	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1433188	0.90[ASN][1000 genomes]
rs1433193	0.85[JPT][hapmap]
rs17301273	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17302560	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs1836031	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28577060	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847160	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4100190	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571710	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734967	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734973	0.86[ASN][1000 genomes]
rs56163052	0.86[ASN][1000 genomes]
rs6469113	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816817	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv524618	chr8:108456805-108458582	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4114169	ABRA	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108450400-108457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:108450400-108469600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:108450400-108469800	Weak transcription	Psoas Muscle	Psoas
4	chr8:108452400-108459400	Weak transcription	Ovary	ovary
5	chr8:108452400-108467200	Weak transcription	Fetal Lung	lung
6	chr8:108452400-108468000	Weak transcription	Aorta	Aorta
7	chr8:108452800-108459800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:108454800-108458000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:108455000-108457600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:108455200-108458000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:108455400-108457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:108455400-108457800	Enhancers	Osteobl	bone
13	chr8:108455400-108458000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:108455400-108458400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:108456000-108457000	Enhancers	HSMM	muscle
16	chr8:108456000-108457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108456000-108457400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:108456000-108457600	Enhancers	NHDF-Ad	bronchial
19	chr8:108456000-108458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:108456200-108457400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:108456200-108457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:108456200-108457600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:108456200-108457600	Enhancers	NHLF	lung
24	chr8:108456200-108457800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:108456200-108458400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:108456400-108457600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:108456400-108457600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:108456400-108458000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:108456600-108457000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:108456600-108457000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:108456600-108457400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:108456600-108457400	Enhancers	Adipose Nuclei	Adipose
33	chr8:108456600-108457600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:108456600-108457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:108456800-108457200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:108456800-108458200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:108456800-108459000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:108456800-108459400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:108456800-108459600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:108456800-108462400	Weak transcription	Colon Smooth Muscle	Colon

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