Variant report

Variant	rs7991623
Chromosome Location	chr13:53617781-53617782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1343611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343612	0.83[EUR][1000 genomes]
rs2806946	0.83[EUR][1000 genomes]
rs2806949	0.80[EUR][1000 genomes]
rs2806950	0.80[EUR][1000 genomes]
rs2806982	0.82[EUR][1000 genomes]
rs4886119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53601200-53620000	Weak transcription	Spleen	Spleen
2	chr13:53603200-53619000	Weak transcription	Pancreas	Pancrea
3	chr13:53609000-53626400	Weak transcription	Small Intestine	intestine
4	chr13:53610800-53628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:53615000-53619200	Weak transcription	Adipose Nuclei	Adipose
6	chr13:53616000-53620600	Enhancers	Fetal Muscle Leg	muscle
7	chr13:53616400-53618400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:53616600-53620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:53616800-53621400	Enhancers	Fetal Stomach	stomach
10	chr13:53617000-53619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:53617000-53619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:53617200-53617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:53617200-53617800	Enhancers	Fetal Lung	lung
14	chr13:53617200-53618000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:53617200-53619400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:53617400-53618400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:53617400-53618600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr13:53617400-53619800	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:53617400-53621800	Genic enhancers	Duodenum Mucosa	Duodenum
20	chr13:53617600-53617800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:53617600-53618200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:53617600-53618200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:53617600-53618200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr13:53617600-53619800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:53617600-53620200	Enhancers	Duodenum Smooth Muscle	Duodenum

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