Variant report

Variant	rs2121771
Chromosome Location	chr3:143504396-143504397
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16854291	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16854322	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16854336	0.82[EUR][1000 genomes]
rs1868180	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57830957	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143492400-143513000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:143494600-143505200	Weak transcription	NHLF	lung
3	chr3:143494800-143505200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:143494800-143505200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:143494800-143505200	Weak transcription	Fetal Lung	lung
6	chr3:143494800-143505400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:143494800-143505400	Weak transcription	Right Atrium	heart
8	chr3:143494800-143515600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:143494800-143515800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:143495000-143505400	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:143496200-143505200	Weak transcription	Brain Substantia Nigra	brain
12	chr3:143499000-143505200	Weak transcription	Aorta	Aorta
13	chr3:143499600-143512800	Weak transcription	Primary T cells from cord blood	blood
14	chr3:143502000-143505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:143503000-143505200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:143503000-143505200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:143503000-143505400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:143503000-143505400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:143503200-143505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:143503200-143505200	Weak transcription	Fetal Heart	heart
21	chr3:143503200-143505400	Weak transcription	Osteobl	bone
22	chr3:143503200-143505600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:143503200-143505600	Weak transcription	HSMMtube	muscle
24	chr3:143503400-143505200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:143503800-143505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:143504000-143505600	Weak transcription	HSMM	muscle
27	chr3:143504200-143505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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