Variant report

Variant	rs56322636
Chromosome Location	chr2:153239540-153239541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153232621..153235253-chr2:153237551..153240252,2	K562	blood:
2	chr2:153233753..153235879-chr2:153237551..153240472,2	K562	blood:
3	chr2:153237750..153240255-chr2:153243184..153245369,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10184210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931075	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931089	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11892662	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11898429	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12474369	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614465	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346202	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35547021	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3901192	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57851180	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59348655	0.87[ASN][1000 genomes]
rs6721741	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6724305	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6736856	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7602505	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9677373	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9678076	0.88[ASN][1000 genomes]
rs9678127	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
4	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
5	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
6	chr2:153226800-153240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:153227000-153242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:153233200-153240000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:153233200-153242200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:153233400-153249000	Weak transcription	Gastric	stomach
12	chr2:153233600-153246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:153233800-153245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:153233800-153255400	Weak transcription	NHEK	skin
15	chr2:153234600-153239600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:153235000-153239600	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:153235400-153243200	Weak transcription	Stomach Mucosa	stomach
18	chr2:153236800-153239800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:153237000-153239800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:153237400-153240200	Weak transcription	HepG2	liver
21	chr2:153237400-153240800	Weak transcription	Pancreas	Pancrea
22	chr2:153237400-153240800	Weak transcription	A549	lung
23	chr2:153237400-153246200	Weak transcription	Placenta	Placenta
24	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:153237400-153255400	Weak transcription	HMEC	breast
27	chr2:153237800-153240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:153237800-153241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:153238000-153241600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:153238200-153240800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:153238200-153241600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:153238200-153241800	Weak transcription	Aorta	Aorta
33	chr2:153238400-153240000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:153238400-153240600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:153238400-153242000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:153238400-153242400	Weak transcription	Fetal Brain Female	brain
37	chr2:153238400-153246400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:153238600-153240800	Weak transcription	Psoas Muscle	Psoas
39	chr2:153238600-153241600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:153238600-153243400	Weak transcription	Fetal Lung	lung
41	chr2:153238600-153245600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:153238600-153246600	Weak transcription	Ovary	ovary
43	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
44	chr2:153238800-153242200	Weak transcription	Fetal Kidney	kidney
45	chr2:153239000-153241000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153239000-153241000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:153239000-153241600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:153239000-153241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:153239000-153242600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153239200-153240600	Weak transcription	Brain Anterior Caudate	brain

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