Variant report

Variant	rs6998032
Chromosome Location	chr8:103943414-103943415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103943378..103945919-chr8:103945978..103949181,3	MCF-7	breast:
2	chr8:103941652..103943631-chr8:103947233..103949355,2	K562	blood:
3	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:
4	chr8:103937650..103939410-chr8:103943379..103945768,2	MCF-7	breast:
5	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1019975	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap]
rs10505040	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544232	0.92[ASN][1000 genomes]
rs12546634	1.00[CHB][hapmap]
rs12547200	1.00[CHB][hapmap]
rs12547652	1.00[LWK][hapmap]
rs12548745	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13123	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs1512351	1.00[LWK][hapmap]
rs1533182	1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17197341	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17200931	1.00[LWK][hapmap]
rs17775450	1.00[CHB][hapmap]
rs17775510	1.00[CHB][hapmap]
rs2304348	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs3808549	1.00[LWK][hapmap]
rs4734672	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4734674	1.00[LWK][hapmap]
rs4734676	0.92[ASN][1000 genomes]
rs4734678	0.92[ASN][1000 genomes]
rs4734680	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56854051	0.92[ASN][1000 genomes]
rs62526533	0.96[ASN][1000 genomes]
rs62526534	0.96[ASN][1000 genomes]
rs62526535	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62526538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468846	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999525	0.96[ASN][1000 genomes]
rs7843670	0.83[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6998032	COX6C	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103938200-103943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
5	chr8:103940200-103972600	Weak transcription	Ovary	ovary
6	chr8:103941600-103943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:103941800-103944000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:103941800-103944400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:103942000-103943600	Enhancers	Primary B cells from cord blood	blood
10	chr8:103942400-103948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103942400-103949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:103942600-103943800	Enhancers	Fetal Kidney	kidney
13	chr8:103942800-103943800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:103942800-103944000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:103943000-103943600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103943000-103948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:103943000-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:103943200-103943600	Enhancers	GM12878-XiMat	blood
19	chr8:103943200-103943800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:103943200-103943800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:103943200-103944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103943200-103944400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:103943400-103944000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:103943400-103944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:103943400-103944000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:103943400-103944200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:103943400-103944200	Weak transcription	Pancreas	Pancrea

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