Variant report

Variant	rs7005218
Chromosome Location	chr8:61789152-61789153
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61786507..61789220-chr8:62034568..62037339,2	K562	blood:
2	chr8:61782330..61785349-chr8:61786739..61790519,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12542688	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253647	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13255553	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13261976	0.83[EUR][1000 genomes]
rs13279465	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13280121	0.82[ASN][1000 genomes]
rs28860866	0.81[AMR][1000 genomes]
rs3814483	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4294221	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4364669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738836	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738839	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7835942	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7839520	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7005218	CLVS1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61775400-61790800	Weak transcription	Fetal Kidney	kidney
2	chr8:61778000-61789600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:61778400-61789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:61778600-61792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:61778800-61789800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:61784000-61789600	Enhancers	Brain Hippocampus Middle	brain
7	chr8:61784200-61789200	Enhancers	Fetal Thymus	thymus
8	chr8:61784400-61789400	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:61784400-61789600	Enhancers	Brain Substantia Nigra	brain
10	chr8:61785000-61789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61785000-61790600	Weak transcription	GM12878-XiMat	blood
12	chr8:61785000-61792400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:61785200-61789800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61786800-61789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:61787000-61789800	Enhancers	Brain Anterior Caudate	brain
16	chr8:61787400-61789200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:61787600-61789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:61787800-61789400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:61788000-61790400	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:61788400-61789200	Enhancers	Brain Angular Gyrus	brain
21	chr8:61788400-61789200	Enhancers	Fetal Muscle Leg	muscle
22	chr8:61788400-61797400	Weak transcription	Primary T cells from cord blood	blood
23	chr8:61788600-61789400	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:61788600-61789800	Enhancers	Pancreas	Pancrea
25	chr8:61788800-61789200	Weak transcription	Placenta	Placenta
26	chr8:61788800-61790000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:61788800-61790200	Weak transcription	Right Ventricle	heart
28	chr8:61789000-61789200	Enhancers	Gastric	stomach
29	chr8:61789000-61789400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:61789000-61790000	Weak transcription	Fetal Intestine Large	intestine
31	chr8:61789000-61790200	Active TSS	Rectal Smooth Muscle	rectum

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