Variant report

Variant	rs10195520
Chromosome Location	chr2:72957813-72957814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72949375..72951848-chr2:72956840..72958572,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187814	0.90[AMR][1000 genomes]
rs10188019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205532	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10469964	1.00[AMR][1000 genomes]
rs11883986	0.90[AMR][1000 genomes]
rs11902280	0.90[AMR][1000 genomes]
rs12105464	0.89[AMR][1000 genomes]
rs13390314	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397183	0.90[AMR][1000 genomes]
rs13399612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405937	0.90[AMR][1000 genomes]
rs13416510	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13426439	0.84[AFR][1000 genomes]
rs28581818	0.90[AMR][1000 genomes]
rs6546784	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585242	0.90[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	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72922400-72972000	Weak transcription	Right Ventricle	heart
3	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
4	chr2:72923000-72972800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:72923600-72958200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:72937200-72974200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:72937800-72978400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:72940600-72959600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:72941400-72970000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:72943600-72978800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:72945400-72968000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:72945600-72977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:72946400-72961200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:72946400-72974600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:72946600-72969800	Weak transcription	Placenta	Placenta
18	chr2:72946600-72972800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:72946800-72960800	Weak transcription	Lung	lung
20	chr2:72946800-72971000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:72946800-72980200	Weak transcription	Left Ventricle	heart
22	chr2:72948400-72968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:72950000-72982400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:72950200-72959800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:72950400-72970400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:72950400-72970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:72950400-72970800	Weak transcription	NHEK	skin
28	chr2:72950400-72972600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:72951000-72970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:72951200-72958200	Weak transcription	Brain Anterior Caudate	brain
31	chr2:72951200-72965200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:72951200-72974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:72951400-72971400	Weak transcription	Fetal Stomach	stomach
34	chr2:72951600-72958200	Weak transcription	Fetal Lung	lung
35	chr2:72951600-72968600	Weak transcription	Small Intestine	intestine
36	chr2:72951600-72971200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:72951600-72972600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:72951800-72965200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:72951800-72967600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:72952200-72972800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:72952400-72970800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:72952800-72975000	Weak transcription	Ovary	ovary
43	chr2:72953600-72970200	Weak transcription	HepG2	liver
44	chr2:72956000-72972800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:72957800-72958200	Weak transcription	Fetal Heart	heart
46	chr2:72957800-72967600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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