Variant report

Variant	rs10062770
Chromosome Location	chr5:79665635-79665636
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	CTCF	chr5:79665500-79665650	Caco-2	colon:	n/a	n/a
2	TCF7L2	chr5:79665307-79665698	HEK293	kidney:	n/a	chr5:79665501-79665517 chr5:79665502-79665516 chr5:79665501-79665517
3	POLR2A	chr5:79665299-79665719	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79664972..79667802-chr5:79701918..79705267,3	MCF-7	breast:
2	chr5:79551575..79553595-chr5:79663679..79666458,2	K562	blood:

Variant related genes	Relation type
RNU6-211P	TF binding region
ENSG00000164300	Chromatin interaction
ENSG00000039319	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10056190	1.00[JPT][hapmap]
rs10942920	1.00[JPT][hapmap]
rs12654082	1.00[JPT][hapmap]
rs1500138	1.00[JPT][hapmap]
rs1862136	1.00[JPT][hapmap]
rs2216548	1.00[JPT][hapmap]
rs6453514	1.00[JPT][hapmap]
rs6859753	1.00[JPT][hapmap]
rs6896247	0.93[ASN][1000 genomes]
rs7709366	0.97[ASN][1000 genomes]
rs7718110	1.00[JPT][hapmap]
rs7720696	1.00[JPT][hapmap]
rs7722090	1.00[JPT][hapmap]
rs7735071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv328596	chr5:79662132-79670063	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10062770	FAM151B	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79663400-79667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:79664800-79665800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:79664800-79666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:79664800-79666400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:79664800-79666800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:79664800-79667000	Enhancers	Brain Angular Gyrus	brain
7	chr5:79665000-79665800	Enhancers	Fetal Brain Female	brain
8	chr5:79665000-79666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:79665000-79667000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79665200-79666800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:79665200-79666800	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:79665400-79665800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr5:79665400-79665800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr5:79665400-79665800	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr5:79665400-79666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:79665400-79666600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:79665400-79666600	Enhancers	Fetal Intestine Small	intestine
18	chr5:79665400-79667000	Enhancers	Duodenum Mucosa	Duodenum
19	chr5:79665600-79666400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:79665600-79666600	Enhancers	Brain Germinal Matrix	brain
21	chr5:79665600-79666600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:79665600-79666600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:79665600-79666800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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