Variant report

Variant	rs313192
Chromosome Location	chr6:86105713-86105714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4235825	0.81[AMR][1000 genomes]
rs4707204	0.81[AMR][1000 genomes]
rs4707205	0.81[AMR][1000 genomes]
rs6921710	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs694442	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7747248	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv830721	chr6:85987644-86147414	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1019960	chr6:86023236-86136666	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86087600-86111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:86100200-86111200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:86100800-86110400	Weak transcription	Osteobl	bone
4	chr6:86101000-86110000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:86101000-86111400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:86101200-86105800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:86101200-86106200	Weak transcription	Stomach Mucosa	stomach
8	chr6:86101200-86110400	Weak transcription	A549	lung
9	chr6:86103200-86107000	Enhancers	HepG2	liver
10	chr6:86103200-86111200	Weak transcription	NHDF-Ad	bronchial
11	chr6:86103800-86106000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:86104400-86106200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:86104400-86106200	Enhancers	Liver	Liver
14	chr6:86104600-86106600	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:86104600-86107000	Enhancers	Fetal Intestine Large	intestine
16	chr6:86104600-86107000	Enhancers	Fetal Intestine Small	intestine
17	chr6:86105000-86105800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:86105000-86111000	Weak transcription	Small Intestine	intestine
19	chr6:86105200-86106000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:86105400-86106200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:86105400-86110000	Weak transcription	HUVEC	blood vessel

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