Variant report

Variant	rs2806933
Chromosome Location	chr13:53643370-53643371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53542013..53542636-chr13:53643135..53643785,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12552	0.82[CEU][hapmap]
rs1343605	0.81[EUR][1000 genomes]
rs1343607	0.91[EUR][1000 genomes]
rs1343610	0.85[EUR][1000 genomes]
rs1419216	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1936385	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2246208	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806946	0.89[EUR][1000 genomes]
rs2806949	0.92[EUR][1000 genomes]
rs2806950	0.92[EUR][1000 genomes]
rs2806971	0.86[EUR][1000 genomes]
rs2806974	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806978	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2806933	KCNRG	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53639200-53654800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:53640800-53643600	Enhancers	Fetal Muscle Leg	muscle
3	chr13:53641000-53643800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:53641600-53643400	Enhancers	Fetal Kidney	kidney
5	chr13:53641600-53643800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:53641600-53644000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:53642200-53643400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:53642200-53643400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:53642200-53643600	Enhancers	Brain Germinal Matrix	brain
10	chr13:53642200-53643800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:53642200-53643800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:53642600-53643400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:53642600-53643800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:53642800-53643600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:53643000-53643400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr13:53643000-53643400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr13:53643000-53643400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr13:53643000-53643400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr13:53643000-53643600	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr13:53643000-53643600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr13:53643000-53643600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr13:53643000-53643600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:53643000-53644000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:53643000-53648200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:53643200-53643600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr13:53643200-53643800	Enhancers	Fetal Brain Female	brain
27	chr13:53643200-53647400	Weak transcription	Brain Anterior Caudate	brain
28	chr13:53643200-53648800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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