Variant report

Variant	rs12620035
Chromosome Location	chr2:178224872-178224873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178117695..178120766-chr2:178224864..178227340,3	K562	blood:
2	chr2:178222001..178225434-chr2:178226745..178229675,3	K562	blood:
3	chr2:178224396..178226340-chr2:178227244..178229048,3	K562	blood:
4	chr2:178224203..178225803-chr2:178254150..178255712,2	K562	blood:
5	chr2:178220531..178222104-chr2:178224276..178225809,2	K562	blood:

Variant related genes	Relation type
ENSG00000265396	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10170546	0.82[ASN][1000 genomes]
rs10176632	0.96[ASN][1000 genomes]
rs10208150	0.80[ASN][1000 genomes]
rs10497502	0.85[ASN][1000 genomes]
rs10497508	0.88[ASN][1000 genomes]
rs12104588	0.82[ASN][1000 genomes]
rs12611938	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614820	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618139	0.86[ASN][1000 genomes]
rs1453371	0.96[ASN][1000 genomes]
rs16865203	0.88[ASN][1000 genomes]
rs16865216	0.88[ASN][1000 genomes]
rs16865229	0.88[ASN][1000 genomes]
rs16865291	0.86[ASN][1000 genomes]
rs1901824	0.88[ASN][1000 genomes]
rs1901825	0.88[ASN][1000 genomes]
rs1901826	0.96[ASN][1000 genomes]
rs1901829	0.87[ASN][1000 genomes]
rs2034678	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364845	0.88[ASN][1000 genomes]
rs2364853	0.84[ASN][1000 genomes]
rs3769995	0.86[ASN][1000 genomes]
rs3769996	0.86[ASN][1000 genomes]
rs3769997	0.86[ASN][1000 genomes]
rs3770002	0.86[ASN][1000 genomes]
rs3813259	0.82[ASN][1000 genomes]
rs4893821	0.88[ASN][1000 genomes]
rs4893822	0.85[ASN][1000 genomes]
rs4893931	0.84[ASN][1000 genomes]
rs4893932	0.88[ASN][1000 genomes]
rs4893934	0.86[ASN][1000 genomes]
rs4893935	0.84[ASN][1000 genomes]
rs4893936	0.86[ASN][1000 genomes]
rs4893938	0.82[ASN][1000 genomes]
rs4893951	0.84[ASN][1000 genomes]
rs56942680	0.92[ASN][1000 genomes]
rs57273542	0.89[ASN][1000 genomes]
rs57295810	0.86[ASN][1000 genomes]
rs57527255	0.86[ASN][1000 genomes]
rs57541536	0.86[ASN][1000 genomes]
rs57733896	0.85[ASN][1000 genomes]
rs57948641	0.86[ASN][1000 genomes]
rs58297927	0.86[ASN][1000 genomes]
rs58483300	0.92[ASN][1000 genomes]
rs59111239	0.88[ASN][1000 genomes]
rs59208652	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59421055	0.83[ASN][1000 genomes]
rs59504156	0.84[ASN][1000 genomes]
rs59578457	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59751564	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60642012	0.83[ASN][1000 genomes]
rs60670838	0.88[ASN][1000 genomes]
rs60733259	0.92[ASN][1000 genomes]
rs7573763	0.82[ASN][1000 genomes]
rs7591807	0.82[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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv962042	chr2:178220899-178232397	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178203400-178244400	Weak transcription	HSMM	muscle
2	chr2:178214400-178228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:178216800-178225400	Weak transcription	Ovary	ovary
4	chr2:178218000-178225200	Weak transcription	HSMMtube	muscle
5	chr2:178218000-178256200	Weak transcription	HepG2	liver
6	chr2:178218400-178225000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:178219200-178233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:178221000-178225200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:178221600-178240600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:178223200-178225200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:178223200-178225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:178223600-178225600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:178224000-178225400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:178224000-178226000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:178224200-178225000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:178224200-178225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:178224400-178225600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:178224400-178225600	Enhancers	Fetal Heart	heart
19	chr2:178224600-178225000	Enhancers	Colon Smooth Muscle	Colon
20	chr2:178224800-178225000	Enhancers	Brain Anterior Caudate	brain
21	chr2:178224800-178225000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:178224800-178225200	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:178224800-178225400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:178224800-178225800	Enhancers	Adipose Nuclei	Adipose
25	chr2:178224800-178226400	Weak transcription	Primary monocytes fromperipheralblood	blood

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