Variant report

Variant	rs17285799
Chromosome Location	chr6:4973677-4973678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4973208..4976240-chr6:4987607..4989532,3	MCF-7	breast:
2	chr6:4972160..4974386-chr6:4980917..4982666,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1246938	1.00[ASN][1000 genomes]
rs13197142	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285820	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764178	0.89[CEU][hapmap]
rs34291130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953365	1.00[ASN][1000 genomes]
rs4959322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4954800-4973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4958400-4973800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4966200-4973800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:4966200-4974200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:4971000-4973800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:4971000-4973800	Weak transcription	Psoas Muscle	Psoas
7	chr6:4971000-4974000	Weak transcription	Fetal Lung	lung
8	chr6:4971200-4973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:4971200-4973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:4971400-4973800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:4971400-4975000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:4971600-4973800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:4971600-4973800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:4971600-4974000	Weak transcription	Fetal Brain Male	brain
15	chr6:4971600-4974000	Weak transcription	HSMMtube	muscle
16	chr6:4972200-4974000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:4972200-4974600	Weak transcription	Fetal Brain Female	brain
18	chr6:4972400-4973800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:4972400-4974200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:4972600-4973800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:4972600-4973800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:4972600-4973800	Weak transcription	Fetal Stomach	stomach
23	chr6:4973600-4974000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:4973600-4974000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:4973600-4975000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:4973600-4975000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:4973600-4975200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:4973600-4975800	Enhancers	Fetal Muscle Leg	muscle

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