Variant report

Variant	rs1857859
Chromosome Location	chr6:100894587-100894588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:100885282..100888001-chr6:100892746..100894898,2	K562	blood:
2	chr6:100894013..100895525-chr6:100899314..100902220,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1506080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17060614	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17060615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1847912	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241812	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs3213541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734353	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778032	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798495	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798497	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3830139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs767933	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7741057	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7757905	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390379	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1023710	chr6:100810738-101001115	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv538388	chr6:100810738-101001115	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv515895	chr6:100868779-100910798	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv533053	chr6:100883636-100911512	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100863000-100894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:100884200-100895400	Weak transcription	HSMMtube	muscle
3	chr6:100884400-100895000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:100891400-100895400	Weak transcription	HSMM	muscle
5	chr6:100891800-100894600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:100894000-100897600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:100894200-100894600	ZNF genes & repeats	Aorta	Aorta
8	chr6:100894200-100894600	Bivalent Enhancer	Brain Substantia Nigra	brain
9	chr6:100894200-100894600	Enhancers	Psoas Muscle	Psoas
10	chr6:100894200-100894600	Bivalent Enhancer	Osteobl	bone
11	chr6:100894200-100894800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:100894200-100894800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr6:100894200-100894800	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr6:100894200-100895000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr6:100894200-100895000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr6:100894200-100895400	Bivalent Enhancer	Left Ventricle	heart
17	chr6:100894200-100895600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:100894200-100895600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr6:100894200-100895600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:100894200-100895600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr6:100894200-100895600	Bivalent Enhancer	Fetal Heart	heart
22	chr6:100894200-100896200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:100894400-100894600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:100894400-100894600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:100894400-100894600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:100894400-100894600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:100894400-100894600	Bivalent Enhancer	Liver	Liver
28	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
29	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
30	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr6:100894400-100894600	Bivalent Enhancer	Esophagus	oesophagus
33	chr6:100894400-100894600	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr6:100894400-100894600	Enhancers	Gastric	stomach
35	chr6:100894400-100894600	Bivalent Enhancer	Lung	lung
36	chr6:100894400-100894600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr6:100894400-100894600	Bivalent/Poised TSS	Right Atrium	heart
38	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr6:100894400-100894600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr6:100894400-100894800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:100894400-100894800	Enhancers	Pancreas	Pancrea
42	chr6:100894400-100894800	Bivalent Enhancer	Small Intestine	intestine
43	chr6:100894400-100894800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr6:100894400-100894800	Enhancers	Spleen	Spleen
45	chr6:100894400-100895000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr6:100894400-100895000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:100894400-100895000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
48	chr6:100894400-100895000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr6:100894400-100895000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:100894400-100895000	Bivalent/Poised TSS	NHDF-Ad	bronchial

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