Variant report

Variant	rs2553007
Chromosome Location	chr2:173789577-173789578
allele	G/T
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	chr2:173789316-173789827	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173788551..173791667-chr2:173792405..173795406,3	K562	blood:

Variant related genes	Relation type
RAPGEF4	TF binding region
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2553005	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2553006	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2676505	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
3	chr2:173782400-173792800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:173782600-173796000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:173786200-173792400	Weak transcription	Right Atrium	heart
6	chr2:173786400-173792400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:173786400-173794800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:173786600-173792200	Weak transcription	Pancreas	Pancrea
9	chr2:173786800-173791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:173786800-173791800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:173786800-173792200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:173786800-173792400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:173786800-173792400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:173786800-173792600	Weak transcription	A549	lung
15	chr2:173786800-173793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:173786800-173794600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:173786800-173794600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:173786800-173794600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:173787000-173792200	Weak transcription	Fetal Stomach	stomach
20	chr2:173787200-173791800	Weak transcription	HUVEC	blood vessel
21	chr2:173787400-173791000	Weak transcription	Hela-S3	cervix
22	chr2:173787400-173792400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:173787800-173792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:173787800-173792600	Weak transcription	Fetal Heart	heart
25	chr2:173788000-173791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:173788000-173793000	Weak transcription	HSMMtube	muscle
27	chr2:173788200-173796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:173788800-173789600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:173788800-173789600	Enhancers	Brain Substantia Nigra	brain
30	chr2:173789000-173792400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:173789200-173799400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:173789400-173792400	Weak transcription	Fetal Lung	lung
33	chr2:173789400-173793000	Weak transcription	Brain Anterior Caudate	brain

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