Variant report

Variant	rs4591635
Chromosome Location	chr4:78991030-78991031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78953783..78955341-chr4:78989296..78991201,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10016219	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10016229	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10016432	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502881	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502882	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502883	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502884	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502885	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1502886	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2036454	0.81[EUR][1000 genomes]
rs2055493	0.81[EUR][1000 genomes]
rs28627760	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28733880	0.81[EUR][1000 genomes]
rs4334779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4597857	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4615194	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4642273	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859907	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859908	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859909	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859912	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7659437	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7689647	0.81[EUR][1000 genomes]
rs873453	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs873454	0.84[AMR][1000 genomes]
rs873455	0.84[AMR][1000 genomes];0.83[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	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4591635	SHROOM3	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78980800-78998200	Weak transcription	Pancreas	Pancrea
2	chr4:78981000-78991200	Weak transcription	Right Atrium	heart
3	chr4:78981000-78995600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:78982200-78998200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:78983400-78996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:78983400-79001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:78986200-78995600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:78987000-78995600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:78987200-78993200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:78987400-78994400	Weak transcription	Fetal Kidney	kidney
12	chr4:78988000-78992800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:78988000-78994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:78988600-78992800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:78988800-78992400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:78988800-78992800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:78988800-79002600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:78988800-79003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:78989200-78992400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:78989400-78992800	Strong transcription	HepG2	liver
21	chr4:78989800-78992000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:78990200-78992800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:78990400-78991400	Enhancers	Fetal Intestine Large	intestine
24	chr4:78990600-78991200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:78990600-78991200	Enhancers	HSMMtube	muscle
26	chr4:78990600-78991400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:78990600-78991400	Enhancers	Left Ventricle	heart
28	chr4:78990600-78991400	Enhancers	Psoas Muscle	Psoas
29	chr4:78990800-78991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:78990800-78991400	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:78990800-78991600	Weak transcription	HMEC	breast
32	chr4:78990800-78996000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:78991000-78991400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:78991000-78992200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:78991000-78992200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:78991000-78992200	Enhancers	NHEK	skin

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