Variant report

Variant	rs67874818
Chromosome Location	chr2:153081163-153081164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10182046	0.82[EUR][1000 genomes]
rs10194916	0.93[EUR][1000 genomes]
rs10200231	0.82[EUR][1000 genomes]
rs10930984	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930988	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11683326	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11684002	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684622	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11695538	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12999722	0.80[EUR][1000 genomes]
rs13023172	0.86[EUR][1000 genomes]
rs13027360	0.82[EUR][1000 genomes]
rs17326195	0.85[EUR][1000 genomes]
rs17398246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17398253	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17398399	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1987371	0.83[EUR][1000 genomes]
rs2345644	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345646	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345816	0.86[EUR][1000 genomes]
rs2345886	0.86[EUR][1000 genomes]
rs2345887	0.86[EUR][1000 genomes]
rs2345888	0.85[EUR][1000 genomes]
rs2345889	0.86[EUR][1000 genomes]
rs2345890	0.86[EUR][1000 genomes]
rs2345891	0.86[EUR][1000 genomes]
rs2345892	0.86[EUR][1000 genomes]
rs2345893	0.80[EUR][1000 genomes]
rs2345897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345900	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2881237	0.84[EUR][1000 genomes]
rs2881238	0.86[EUR][1000 genomes]
rs2881242	0.82[EUR][1000 genomes]
rs35451141	0.81[EUR][1000 genomes]
rs4233656	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284784	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4293527	0.86[EUR][1000 genomes]
rs4316898	0.86[EUR][1000 genomes]
rs4664090	0.93[EUR][1000 genomes]
rs4664092	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664548	0.81[EUR][1000 genomes]
rs4664549	0.86[EUR][1000 genomes]
rs4664551	0.86[EUR][1000 genomes]
rs4664552	0.85[EUR][1000 genomes]
rs4664556	0.80[EUR][1000 genomes]
rs4664558	0.82[EUR][1000 genomes]
rs56853020	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60098187	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60847003	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433898	0.89[EUR][1000 genomes]
rs6433929	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433933	0.85[EUR][1000 genomes]
rs6433935	0.86[EUR][1000 genomes]
rs6433940	0.85[EUR][1000 genomes]
rs66529470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66530032	0.85[EUR][1000 genomes]
rs66673544	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66733611	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66782719	0.85[EUR][1000 genomes]
rs6712158	0.86[EUR][1000 genomes]
rs67135983	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67157738	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6726065	0.85[EUR][1000 genomes]
rs6729673	0.86[EUR][1000 genomes]
rs6745311	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6747394	0.85[EUR][1000 genomes]
rs6750417	0.85[EUR][1000 genomes]
rs6750670	0.85[EUR][1000 genomes]
rs68008008	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68036808	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857737	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859833	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72859836	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72864740	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72864741	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72864754	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72864765	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73002815	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570050	0.86[EUR][1000 genomes]
rs7579128	0.86[EUR][1000 genomes]
rs7586518	0.85[EUR][1000 genomes]
rs7597103	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7600346	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1004308	chr2:152980087-153154534	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv535985	chr2:152980087-153154534	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153077800-153081800	Enhancers	Fetal Stomach	stomach
2	chr2:153078000-153081200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:153078000-153081200	Enhancers	Brain Hippocampus Middle	brain
4	chr2:153078000-153081400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:153078000-153081400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:153078400-153081200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:153078400-153081200	Enhancers	Fetal Brain Female	brain
8	chr2:153078400-153081200	Enhancers	Fetal Kidney	kidney
9	chr2:153079400-153081200	Enhancers	Brain Germinal Matrix	brain
10	chr2:153079400-153081200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:153079400-153081200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:153079800-153081200	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:153080000-153081800	Enhancers	Fetal Lung	lung
14	chr2:153080200-153081200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:153080400-153081200	Enhancers	Ovary	ovary
16	chr2:153080600-153084400	Weak transcription	Osteobl	bone
17	chr2:153080600-153084600	Weak transcription	NHLF	lung
18	chr2:153080600-153085600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:153080800-153083800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:153080800-153084000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:153080800-153084600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:153080800-153084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:153080800-153090800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:153081000-153083400	Weak transcription	Brain Substantia Nigra	brain
25	chr2:153081000-153084000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:153081000-153084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:153081000-153084200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:153081000-153084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:153081000-153084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:153081000-153084400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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