Variant report

Variant	rs7996253
Chromosome Location	chr13:39452993-39452994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17058513	1.00[EUR][1000 genomes]
rs2483422	1.00[EUR][1000 genomes]
rs56337003	1.00[EUR][1000 genomes]
rs56357117	1.00[EUR][1000 genomes]
rs58892971	1.00[EUR][1000 genomes]
rs61177158	1.00[EUR][1000 genomes]
rs73461816	1.00[EUR][1000 genomes]
rs73461845	1.00[EUR][1000 genomes]
rs73461846	1.00[EUR][1000 genomes]
rs73461877	1.00[EUR][1000 genomes]
rs9603497	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39420800-39454600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:39424200-39457800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:39430600-39458000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:39430600-39462400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:39432200-39458200	Weak transcription	Gastric	stomach
6	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
7	chr13:39433800-39456600	Weak transcription	Fetal Stomach	stomach
8	chr13:39436000-39457800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:39446400-39458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:39447000-39457800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:39447000-39458800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:39447000-39462400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:39447000-39462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:39449200-39453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:39449400-39457000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:39449600-39453000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:39449800-39454600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr13:39450000-39453000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:39450000-39453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:39450000-39455000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:39450000-39456400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:39450600-39454600	Weak transcription	Pancreas	Pancrea
23	chr13:39450600-39457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:39451200-39455600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:39451400-39468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:39452000-39453400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:39452400-39454600	Enhancers	Fetal Intestine Small	intestine
28	chr13:39452600-39453200	Enhancers	Duodenum Mucosa	Duodenum
29	chr13:39452600-39454400	Enhancers	Fetal Intestine Large	intestine
30	chr13:39452800-39453000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:39452800-39453000	Enhancers	Fetal Kidney	kidney
32	chr13:39452800-39454200	Enhancers	Liver	Liver

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