Variant report

Variant	rs9993206
Chromosome Location	chr4:122686957-122686958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:122686044-122686960	H1-neurons	neurons:	n/a	n/a
2	BACH1	chr4:122686877-122686971	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC079341.1-5	chr4:122685740-122687963	NR_024365

Variant related genes	Relation type
TMEM155	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10001092	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10001697	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10001889	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10004284	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10007956	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10012775	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10013916	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10020581	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10023020	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10024878	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10028375	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10084948	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10212738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1048433	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11098640	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11098641	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11098643	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11724322	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11734075	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11934307	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12510839	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13104233	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13106764	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13108419	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13113338	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13113421	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13114801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13117282	0.89[AFR][1000 genomes]
rs13119055	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13127488	0.89[AFR][1000 genomes]
rs13128434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13130789	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13140070	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13145558	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13152701	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17005256	0.81[CHB][hapmap]
rs28394772	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28435300	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28522256	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28615388	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28672860	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3217772	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs34445121	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35341163	0.90[AFR][1000 genomes]
rs35495505	1.00[AFR][1000 genomes]
rs3762840	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4075065	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4075066	0.96[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240262	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4240263	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4240264	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4315813	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4361412	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4455438	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4516738	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4833232	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833233	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4833234	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4833235	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4833236	0.80[CHB][hapmap];0.90[AFR][1000 genomes]
rs4833769	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4833770	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4833771	1.00[YRI][hapmap]
rs4833773	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833775	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67150579	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67775544	1.00[AFR][1000 genomes]
rs6822155	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6827573	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6828650	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7676867	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs769236	1.00[AFR][1000 genomes]
rs7698889	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7699289	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs951974	1.00[ASW][hapmap];0.89[AFR][1000 genomes]
rs966555	0.90[AFR][1000 genomes]
rs9995319	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9995322	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9998385	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9998785	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122685000-122687000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:122685400-122687000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr4:122685400-122687000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:122685600-122687000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:122685600-122687000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:122685600-122687000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:122685600-122687000	Active TSS	NHDF-Ad	bronchial
8	chr4:122685600-122687000	Bivalent/Poised TSS	NHEK	skin
9	chr4:122685600-122687200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr4:122685600-122687200	Active TSS	Brain Angular Gyrus	brain
11	chr4:122685800-122687000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:122685800-122687000	Active TSS	Osteobl	bone
13	chr4:122686400-122687000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:122686600-122687000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr4:122686600-122687000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:122686600-122687000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:122686600-122687000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:122686600-122687000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:122686600-122687000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:122686600-122687000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
21	chr4:122686600-122687000	Active TSS	Right Atrium	heart
22	chr4:122686600-122687200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr4:122686600-122687200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
24	chr4:122686600-122687400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr4:122686600-122687400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr4:122686600-122687400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr4:122686600-122687800	Flanking Active TSS	Fetal Heart	heart
28	chr4:122686800-122687000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:122686800-122687000	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr4:122686800-122687000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
31	chr4:122686800-122687000	Bivalent/Poised TSS	HUVEC	blood vessel
32	chr4:122686800-122687200	Bivalent/Poised TSS	Placenta	Placenta
33	chr4:122686800-122687200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:122686800-122687400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr4:122686800-122687400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:122686800-122687600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr4:122686800-122687600	Active TSS	Right Ventricle	heart
38	chr4:122686800-122689600	Weak transcription	Ovary	ovary

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