Variant report

Variant	rs1197475
Chromosome Location	chr14:81304498-81304499
allele	A/C
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	FAM48A	chr14:81304369-81304518	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CEP128	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs162175	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162176	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1674557	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189012	1.00[AMR][1000 genomes]
rs228117	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs228123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2556602	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327430	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs327438	1.00[AMR][1000 genomes]
rs327444	0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327445	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327448	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327449	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327453	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs327455	1.00[AMR][1000 genomes]
rs327461	1.00[AMR][1000 genomes]
rs327466	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327474	1.00[AMR][1000 genomes]
rs327475	1.00[AMR][1000 genomes]
rs327478	1.00[AMR][1000 genomes]
rs327479	1.00[AMR][1000 genomes]
rs327480	1.00[AMR][1000 genomes]
rs328253	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs442359	1.00[AMR][1000 genomes]
rs60529658	1.00[AMR][1000 genomes]
rs7141981	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146496	1.00[CHD][hapmap]
rs7149056	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153324	1.00[CHD][hapmap]
rs8005704	1.00[AMR][1000 genomes]
rs8022471	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81285000-81310200	Weak transcription	A549	lung
4	chr14:81285000-81311200	Weak transcription	Ovary	ovary
5	chr14:81285200-81315600	Weak transcription	HSMM	muscle
6	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:81288800-81305800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:81290600-81311200	Weak transcription	Fetal Stomach	stomach
10	chr14:81291200-81305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:81291400-81305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:81291400-81306600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81291600-81310000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:81291600-81310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:81291800-81307000	Strong transcription	Dnd41	blood
17	chr14:81291800-81307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:81291800-81307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:81292800-81307000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:81294400-81309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:81295600-81308800	Weak transcription	Brain Substantia Nigra	brain
24	chr14:81302400-81305200	Strong transcription	Fetal Thymus	thymus
25	chr14:81303800-81304800	Strong transcription	Thymus	Thymus

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