Variant report

Variant	rs9379994
Chromosome Location	chr6:27571754-27571755
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27156508..27159438-chr6:27571250..27573740,2	K562	blood:
2	chr6:27113006..27116236-chr6:27571739..27573884,3	K562	blood:
3	chr6:27569083..27571892-chr6:27582628..27586229,3	K562	blood:
4	chr6:27571136..27572804-chr6:27773421..27775683,2	K562	blood:
5	chr6:27568750..27570723-chr6:27570904..27572466,2	K562	blood:
6	chr6:27570023..27571795-chr6:27634776..27636540,2	K562	blood:
7	chr6:27559683..27565961-chr6:27567961..27572614,12	K562	blood:
8	chr6:27561752..27563397-chr6:27571650..27573465,2	K562	blood:
9	chr6:27570328..27572718-chr6:27859457..27861773,2	K562	blood:
10	chr6:27113006..27115425-chr6:27571739..27573552,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197903	Chromatin interaction
ENSG00000206671	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1028311	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2142704	0.83[EUR][1000 genomes]
rs4236044	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711157	0.83[EUR][1000 genomes]
rs56408767	0.81[ASN][1000 genomes]
rs6456798	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6908024	0.83[EUR][1000 genomes]
rs6911283	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6934295	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6936653	0.82[ASN][1000 genomes]
rs73739763	0.83[ASN][1000 genomes]
rs7763685	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9368517	0.81[ASN][1000 genomes]
rs9379995	0.87[ASN][1000 genomes]
rs9380000	0.81[ASN][1000 genomes]
rs9393826	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9393832	0.85[ASN][1000 genomes]
rs9393835	0.83[ASN][1000 genomes]
rs9393836	0.83[ASN][1000 genomes]
rs9393838	0.82[ASN][1000 genomes]
rs9393839	0.81[ASN][1000 genomes]
rs9461392	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468157	0.82[EUR][1000 genomes]
rs9468158	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27569800-27574400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27570000-27572400	Weak transcription	HepG2	liver
3	chr6:27570000-27572800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:27570000-27572800	Weak transcription	Hela-S3	cervix
5	chr6:27570600-27572600	Weak transcription	HUVEC	blood vessel
6	chr6:27570600-27572600	Weak transcription	NHEK	skin
7	chr6:27570600-27572800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:27570600-27572800	Weak transcription	NHDF-Ad	bronchial
9	chr6:27570600-27576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:27570800-27572200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27570800-27572200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:27570800-27572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:27570800-27572200	Weak transcription	GM12878-XiMat	blood
14	chr6:27570800-27572600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:27570800-27572600	Weak transcription	HMEC	breast
16	chr6:27570800-27572800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:27570800-27572800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:27570800-27572800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:27570800-27573200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:27571000-27572200	Weak transcription	K562	blood
21	chr6:27571000-27572400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:27571000-27572800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:27571200-27572200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:27571200-27572200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:27571200-27572400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:27571200-27572400	Weak transcription	A549	lung
27	chr6:27571400-27572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:27571400-27572200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:27571400-27572600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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