Variant report

Variant	rs2596621
Chromosome Location	chr3:24194499-24194500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24192615..24194555-chr3:24198415..24201096,2	K562	blood:
2	chr3:24187851..24190710-chr3:24194476..24197652,3	K562	blood:
3	chr3:24192699..24194693-chr3:24196600..24199539,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1470661	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623905	0.83[AMR][1000 genomes]
rs2596620	0.87[AMR][1000 genomes]
rs2596625	1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs2683533	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683534	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2683545	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834639	chr3:24037113-24233925	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr3:24167000-24197800	Weak transcription	K562	blood
2	chr3:24180000-24206600	Weak transcription	Pancreas	Pancrea
3	chr3:24183400-24198000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:24184600-24196200	Weak transcription	HepG2	liver
5	chr3:24185400-24195200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:24186200-24230800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:24187800-24197800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:24188000-24202200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:24188200-24196400	Weak transcription	Aorta	Aorta
10	chr3:24188200-24197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:24188200-24201600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:24188200-24203400	Weak transcription	Right Atrium	heart
13	chr3:24188200-24203600	Weak transcription	Liver	Liver
14	chr3:24188200-24210000	Weak transcription	Gastric	stomach
15	chr3:24188200-24215200	Weak transcription	Right Ventricle	heart
16	chr3:24188400-24198000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:24189200-24195800	Weak transcription	HSMM	muscle
18	chr3:24189400-24195200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:24189600-24198000	Weak transcription	NHLF	lung
20	chr3:24189600-24198600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:24190600-24198000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:24190800-24195000	Weak transcription	NHDF-Ad	bronchial
23	chr3:24190800-24202400	Weak transcription	Adipose Nuclei	Adipose
24	chr3:24191000-24198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:24192000-24196000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:24192400-24197200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:24192400-24198000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:24192800-24202200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:24193200-24194800	Enhancers	Placenta	Placenta
30	chr3:24193200-24195200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:24193600-24196400	Weak transcription	HSMMtube	muscle
32	chr3:24194000-24197800	Weak transcription	Psoas Muscle	Psoas
33	chr3:24194000-24202200	Weak transcription	Fetal Lung	lung
34	chr3:24194000-24202200	Weak transcription	Ovary	ovary
35	chr3:24194000-24203000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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