Variant report

Variant	rs10930543
Chromosome Location	chr2:173164901-173164902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173156581..173161480-chr2:173162847..173166156,5	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10803872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803873	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930542	0.82[AFR][1000 genomes]
rs10930544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930545	0.80[AFR][1000 genomes]
rs10930546	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11677934	0.81[AFR][1000 genomes]
rs11677943	0.82[AFR][1000 genomes]
rs11682072	0.82[EUR][1000 genomes]
rs12475457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3934990	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935436	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935437	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4522573	0.87[EUR][1000 genomes]
rs4588155	0.88[EUR][1000 genomes]
rs4972483	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972782	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56030771	0.82[EUR][1000 genomes]
rs56206805	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62167402	0.88[EUR][1000 genomes]
rs62167427	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6433348	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433349	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735215	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6735271	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743235	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758468	0.82[EUR][1000 genomes]
rs7560146	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7569240	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7579339	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595714	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596005	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7605564	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][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	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173151400-173168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173161200-173172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:173161400-173172200	Weak transcription	Right Atrium	heart
4	chr2:173161600-173165800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:173162400-173172600	Weak transcription	Fetal Thymus	thymus
6	chr2:173162800-173165000	Enhancers	Fetal Muscle Leg	muscle
7	chr2:173164000-173165000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:173164000-173165200	Enhancers	Stomach Mucosa	stomach
9	chr2:173164200-173165000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:173164200-173165000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173164200-173165000	Enhancers	HSMM	muscle
12	chr2:173164200-173165000	Enhancers	Osteobl	bone
13	chr2:173164200-173165200	Enhancers	HMEC	breast
14	chr2:173164400-173165000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:173164400-173165000	Enhancers	NHEK	skin
16	chr2:173164400-173165400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:173164600-173165000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:173164600-173165000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:173164600-173165000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:173164600-173165000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:173164600-173165200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:173164600-173165200	Weak transcription	Fetal Lung	lung
23	chr2:173164600-173165200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:173164800-173165000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr2:173164800-173165000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:173164800-173165000	Flanking Active TSS	HSMMtube	muscle
27	chr2:173164800-173165000	Enhancers	NH-A	brain
28	chr2:173164800-173172800	Weak transcription	Pancreas	Pancrea

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