Variant report

Variant	rs191261
Chromosome Location	chr5:7826305-7826306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7819659..7822148-chr5:7824680..7826554,2	K562	blood:
2	chr5:7815132..7817938-chr5:7825115..7826911,2	K562	blood:
3	chr5:7826263..7828308-chr5:7856719..7858613,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10474820	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10474821	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10475395	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162020	0.84[ASN][1000 genomes]
rs162054	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16879202	0.85[CEU][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16879204	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs179044	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287778	0.82[CEU][hapmap];0.93[CHD][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs326171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs326173	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326174	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326175	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs326184	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465947	0.90[JPT][hapmap]
rs4702502	0.88[CEU][hapmap];0.88[CHD][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66820699	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870733	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6879836	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6887726	0.88[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7703102	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs89599	0.80[ASN][1000 genomes]
rs9313204	0.88[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989632	0.88[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989633	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989634	0.88[CEU][hapmap];0.88[CHD][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989635	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3354956	chr5:7823152-7827350	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3342215	chr5:7824002-7826800	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs191261	SEMA5A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7808400-7827000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:7816600-7827000	Weak transcription	Ovary	ovary
3	chr5:7816800-7827400	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:7816800-7828800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:7817000-7826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:7817000-7828000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:7817200-7826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:7818400-7828200	Weak transcription	Fetal Brain Female	brain
9	chr5:7819200-7829200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:7820000-7830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:7820200-7828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:7822000-7828600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:7822000-7829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:7822200-7826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:7822200-7827000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:7822200-7828200	Weak transcription	Brain Anterior Caudate	brain
17	chr5:7823400-7826400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:7824000-7827400	Weak transcription	Brain Germinal Matrix	brain
19	chr5:7824400-7827600	Strong transcription	Fetal Stomach	stomach
20	chr5:7824400-7827800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:7824600-7827200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:7824600-7827600	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr5:7824600-7827600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr5:7825000-7827400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:7825200-7827200	Strong transcription	Fetal Intestine Small	intestine
26	chr5:7825200-7827400	Weak transcription	Fetal Brain Male	brain
27	chr5:7825600-7827000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:7825600-7827400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:7825600-7828800	Weak transcription	Pancreas	Pancrea
30	chr5:7825600-7829200	Weak transcription	Gastric	stomach
31	chr5:7825600-7830200	Weak transcription	Aorta	Aorta
32	chr5:7825800-7826600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:7825800-7826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:7826000-7826600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:7826000-7827000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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