Variant report

Variant	rs396869
Chromosome Location	chr6:13714482-13714483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13615378..13616963-chr6:13714230..13716669,2	K562	blood:
2	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
3	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
4	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
5	chr6:13667308..13669773-chr6:13712805..13714594,2	K562	blood:
6	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
7	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
8	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
9	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050393	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs204241	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs379903	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs381560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394312	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405447	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418053	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs441116	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3352859	chr6:13713873-13716971	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs396869	C6orf218	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13712800-13715600	Weak transcription	Esophagus	oesophagus
2	chr6:13712800-13715600	Weak transcription	Gastric	stomach
3	chr6:13712800-13716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:13712800-13717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13713000-13716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:13713200-13715000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:13713200-13715200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:13713200-13715400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:13713200-13715400	Enhancers	Fetal Heart	heart
10	chr6:13713200-13716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:13713400-13715600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:13713400-13715800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:13713600-13715000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:13713600-13715000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:13713600-13715200	Weak transcription	GM12878-XiMat	blood
16	chr6:13713600-13715400	Weak transcription	HepG2	liver
17	chr6:13713600-13715600	Weak transcription	K562	blood
18	chr6:13713600-13715800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:13713600-13716000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:13713600-13717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:13713800-13715600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:13713800-13716000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:13714000-13715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:13714000-13718000	Weak transcription	Dnd41	blood
25	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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