Variant report

Variant	rs57406175
Chromosome Location	chr2:54827598-54827599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54785770..54787299-chr2:54826149..54827905,2	K562	blood:
2	chr2:54822696..54824811-chr2:54826177..54828033,3	K562	blood:
3	chr2:54815022..54818519-chr2:54825874..54828742,4	K562	blood:
4	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs3796015	0.80[AFR][1000 genomes]
rs55633042	1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs58987524	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59061110	1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6740921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	1.00[AMR][1000 genomes]
rs73934809	1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs73938306	1.00[AMR][1000 genomes]
rs7570695	0.89[AFR][1000 genomes];1.00[AMR][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54822200-54827800	Genic enhancers	Fetal Muscle Leg	muscle
5	chr2:54822200-54828800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54822200-54833800	Genic enhancers	HepG2	liver
7	chr2:54822400-54827600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:54822400-54827800	Enhancers	Colon Smooth Muscle	Colon
9	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
10	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
11	chr2:54822400-54834000	Enhancers	Right Atrium	heart
12	chr2:54822800-54831600	Genic enhancers	A549	lung
13	chr2:54823200-54831000	Genic enhancers	Fetal Intestine Large	intestine
14	chr2:54823800-54829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:54824000-54829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:54824200-54829600	Enhancers	Fetal Heart	heart
17	chr2:54824200-54830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:54824200-54833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:54824400-54828800	Enhancers	HMEC	breast
20	chr2:54824400-54829200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:54824600-54834400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:54824800-54829600	Genic enhancers	Primary hematopoietic stem cells	blood
23	chr2:54824800-54834400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:54825000-54829200	Genic enhancers	HSMM	muscle
26	chr2:54825000-54829800	Weak transcription	Fetal Brain Male	brain
27	chr2:54825200-54827600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:54825200-54828400	Strong transcription	GM12878-XiMat	blood
29	chr2:54825400-54827600	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr2:54825400-54827600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:54825400-54827800	Genic enhancers	Muscle Satellite Cultured Cells	--
32	chr2:54825400-54828200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:54825400-54828800	Strong transcription	Fetal Stomach	stomach
34	chr2:54825400-54829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:54825600-54827600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:54825600-54827600	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:54825600-54827600	Genic enhancers	Brain Substantia Nigra	brain
38	chr2:54825600-54827600	Enhancers	Esophagus	oesophagus
39	chr2:54825600-54827600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:54825600-54827600	Genic enhancers	HUVEC	blood vessel
41	chr2:54825600-54827800	Genic enhancers	Brain Anterior Caudate	brain
42	chr2:54825600-54827800	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr2:54825600-54828400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:54825600-54828400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:54825600-54828600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:54825800-54827600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:54825800-54827600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:54825800-54827600	Genic enhancers	Placenta	Placenta
49	chr2:54825800-54827600	Genic enhancers	Lung	lung
50	chr2:54825800-54827600	Genic enhancers	Pancreas	Pancrea

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