Variant report

Variant	rs4588155
Chromosome Location	chr2:173162438-173162439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10803872	0.88[EUR][1000 genomes]
rs10803873	0.81[EUR][1000 genomes]
rs10930543	0.88[EUR][1000 genomes]
rs10930544	0.86[EUR][1000 genomes]
rs10930546	0.81[EUR][1000 genomes]
rs11682072	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12471128	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12475457	0.88[EUR][1000 genomes]
rs12614676	0.88[EUR][1000 genomes]
rs12692999	0.81[EUR][1000 genomes]
rs3934990	0.81[EUR][1000 genomes]
rs3935436	0.81[EUR][1000 genomes]
rs3935437	0.81[EUR][1000 genomes]
rs4522573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4536625	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4972475	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4972483	0.81[EUR][1000 genomes]
rs4972782	0.81[EUR][1000 genomes]
rs4972787	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56030771	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56206805	0.81[EUR][1000 genomes]
rs62167402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62167427	0.81[EUR][1000 genomes]
rs6433348	0.81[EUR][1000 genomes]
rs6433349	0.81[EUR][1000 genomes]
rs6735215	0.82[EUR][1000 genomes]
rs6735271	0.82[EUR][1000 genomes]
rs6743235	0.81[EUR][1000 genomes]
rs6758468	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67694199	0.82[EUR][1000 genomes]
rs7560146	0.81[EUR][1000 genomes]
rs7569240	0.81[EUR][1000 genomes]
rs7576759	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7579339	0.81[EUR][1000 genomes]
rs7595714	0.81[EUR][1000 genomes]
rs7596005	0.81[EUR][1000 genomes]
rs7605564	0.81[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	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:31 , 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	chr2:173159200-173164400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:173159200-173164600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:173159400-173164200	Weak transcription	HMEC	breast
5	chr2:173160400-173162600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:173160400-173162800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr2:173160600-173162600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr2:173160600-173162600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:173160600-173162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:173160600-173163200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr2:173161000-173163200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr2:173161200-173172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:173161400-173172200	Weak transcription	Right Atrium	heart
14	chr2:173161600-173162800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:173161600-173165800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:173161800-173164400	Weak transcription	NHEK	skin
17	chr2:173162000-173162800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:173162000-173162800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:173162200-173162600	Enhancers	Ovary	ovary
20	chr2:173162200-173162800	Enhancers	Pancreas	Pancrea
21	chr2:173162200-173163600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:173162200-173164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:173162200-173164800	Enhancers	HSMMtube	muscle
24	chr2:173162400-173162600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr2:173162400-173162600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:173162400-173162600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:173162400-173162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:173162400-173162800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:173162400-173163000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr2:173162400-173164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:173162400-173172600	Weak transcription	Fetal Thymus	thymus

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