Variant report

Variant	rs2123608
Chromosome Location	chr7:47851912-47851913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10245949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12670579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237611	0.96[CEU][hapmap]
rs1551275	0.92[CEU][hapmap]
rs17710832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980279	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2177164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4543454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6463451	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6947216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960513	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs6968437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6975745	0.93[CEU][hapmap]
rs7777539	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789224	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs876467	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs9639016	0.93[CEU][hapmap]
rs9639987	0.96[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
2	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:47842600-47852000	Weak transcription	Gastric	stomach
4	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:47846600-47852800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:47847400-47852200	Weak transcription	Left Ventricle	heart
8	chr7:47847400-47854000	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:47847600-47855800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:47847800-47852200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:47847800-47854200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:47848000-47852600	Weak transcription	Spleen	Spleen
16	chr7:47848000-47853200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:47848200-47853000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:47848400-47853400	Weak transcription	A549	lung
19	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
20	chr7:47850600-47853000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:47851200-47853200	Enhancers	Brain Angular Gyrus	brain
22	chr7:47851200-47853200	Enhancers	Brain Anterior Caudate	brain
23	chr7:47851200-47853400	Enhancers	Brain Substantia Nigra	brain
24	chr7:47851200-47853600	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:47851200-47853600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:47851200-47853600	Enhancers	HepG2	liver
27	chr7:47851200-47853800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:47851200-47854800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:47851200-47855200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:47851400-47852000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:47851400-47852400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:47851400-47853200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:47851600-47852200	Weak transcription	Lung	lung
34	chr7:47851600-47853200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:47851800-47852000	Enhancers	Fetal Stomach	stomach

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