Variant report

Variant	rs2112957
Chromosome Location	chr5:58491406-58491407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1023814	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2021775	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2081106	1.00[CEU][hapmap]
rs62357996	0.85[EUR][1000 genomes]
rs62357997	0.85[EUR][1000 genomes]
rs7444432	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9292195	0.89[CEU][hapmap]

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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2112957	ELOVL7	cis	cerebellum	SCAN
rs2112957	NDUFAF2	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58484600-58495600	Weak transcription	Fetal Kidney	kidney
3	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58485000-58491800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:58485000-58492600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:58485000-58499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:58485600-58500400	Weak transcription	Psoas Muscle	Psoas
10	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
11	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
12	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:58486000-58494200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:58486600-58492000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:58486800-58492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58489200-58492200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:58489800-58500400	Weak transcription	Right Ventricle	heart
19	chr5:58490000-58495800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:58490000-58500400	Weak transcription	Left Ventricle	heart
21	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:58490000-58511600	Weak transcription	Gastric	stomach
23	chr5:58490200-58491600	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:58490400-58493600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:58490400-58494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:58490400-58501200	Weak transcription	Fetal Heart	heart
27	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:58491200-58492000	Genic enhancers	Hela-S3	cervix
29	chr5:58491400-58491600	Weak transcription	Lung	lung
30	chr5:58491400-58491800	Weak transcription	Aorta	Aorta
31	chr5:58491400-58491800	Transcr. at gene 5' and 3'	A549	lung
32	chr5:58491400-58493400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
35	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach

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