Variant report

Variant	rs4713116
Chromosome Location	chr6:27618630-27618631
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	chr6:27583544..27586615-chr6:27617809..27619941,3	K562	blood:
2	chr6:27603054..27606000-chr6:27615996..27618883,2	K562	blood:
3	chr6:27470766..27473245-chr6:27617195..27618782,2	K562	blood:
4	chr6:27583544..27586200-chr6:27617809..27619941,2	K562	blood:
5	chr6:27585819..27588384-chr6:27617472..27619581,2	MCF-7	breast:
6	chr6:27615823..27619826-chr6:27719510..27721663,4	K562	blood:
7	chr6:27617861..27620397-chr6:27623572..27625829,2	K562	blood:
8	chr6:27617128..27618661-chr6:27630214..27631723,2	K562	blood:
9	chr6:27615823..27619826-chr6:27718831..27721663,4	K562	blood:

No data

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12174918	0.80[AMR][1000 genomes]
rs16867962	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs175597	0.88[CHB][hapmap]
rs17693877	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs200482	0.88[CHB][hapmap]
rs200483	0.88[CHB][hapmap]
rs200484	0.88[CHB][hapmap]
rs200485	0.88[CHB][hapmap]
rs200490	0.88[CHB][hapmap]
rs200501	0.88[CHB][hapmap]
rs200989	0.88[CHB][hapmap]
rs200990	0.88[CHB][hapmap]
rs200995	0.88[CHB][hapmap]
rs201002	0.88[CHB][hapmap]
rs2394001	0.80[AMR][1000 genomes]
rs2747054	0.88[CHB][hapmap]
rs370155	0.88[CHB][hapmap]
rs401763	0.86[CHB][hapmap]
rs4236045	0.82[ASN][1000 genomes]
rs4711158	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4711161	0.83[AMR][1000 genomes]
rs4713117	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4713122	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs4713124	0.80[AMR][1000 genomes]
rs56911191	0.84[AMR][1000 genomes]
rs58322250	1.00[ASN][1000 genomes]
rs58727692	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59015666	0.80[AMR][1000 genomes]
rs7742887	1.00[ASN][1000 genomes]
rs7773905	1.00[ASN][1000 genomes]
rs9295738	0.95[ASN][1000 genomes]
rs9357041	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9368515	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9368516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9379987	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9379988	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs9379989	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9379991	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9379993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9379997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380009	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9380013	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9380014	0.82[ASN][1000 genomes]
rs9380015	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9393825	0.83[AMR][1000 genomes]
rs9393829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9393845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9393854	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs9468183	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27618200-27619400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:27618200-27619600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27618200-27619600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:27618200-27619600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:27618200-27619600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:27618200-27619600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:27618200-27619600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:27618200-27619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27618200-27619800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:27618200-27619800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:27618200-27619800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27618200-27619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:27618200-27619800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:27618200-27619800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:27618400-27619200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr6:27618400-27619200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:27618400-27619200	Active TSS	Hela-S3	cervix
18	chr6:27618400-27619400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:27618400-27619400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:27618400-27619400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:27618400-27619400	Active TSS	A549	lung
22	chr6:27618400-27619600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:27618400-27619600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:27618400-27619600	Active TSS	HMEC	breast
25	chr6:27618600-27618800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr6:27618600-27619000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:27618600-27619000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:27618600-27619000	Active TSS	K562	blood
29	chr6:27618600-27619200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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