Variant report

Variant	rs1453373
Chromosome Location	chr2:178221668-178221669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178220224..178223052-chr2:178258523..178261393,2	K562	blood:
2	chr2:178220132..178221917-chr2:178353594..178356359,2	K562	blood:
3	chr2:178220224..178223061-chr2:178258523..178262241,3	K562	blood:
4	chr2:178220531..178222104-chr2:178224276..178225809,2	K562	blood:
5	chr2:178220773..178223072-chr20:46305174..46307392,2	MCF-7	breast:
6	chr2:178075182..178078093-chr2:178220337..178222693,2	MCF-7	breast:
7	chr2:178219756..178221860-chr2:178226806..178229006,2	K562	blood:
8	chr2:178131203..178132788-chr2:178220664..178222429,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255438	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000196562	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10170546	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10170667	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10176632	0.83[ASN][1000 genomes]
rs10208150	0.82[ASN][1000 genomes]
rs10497502	0.90[JPT][hapmap]
rs10497503	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10497508	0.90[JPT][hapmap]
rs11688684	0.81[JPT][hapmap]
rs12104588	0.84[ASN][1000 genomes]
rs12469386	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12611938	0.85[ASN][1000 genomes]
rs12614820	0.85[ASN][1000 genomes]
rs12616093	0.81[JPT][hapmap]
rs12618139	0.95[JPT][hapmap]
rs12996447	0.82[ASN][1000 genomes]
rs13000048	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13004955	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs13027959	0.82[ASN][1000 genomes]
rs1348848	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1348849	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1348850	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs1374437	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1453370	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1453371	0.83[ASN][1000 genomes]
rs16865203	0.90[JPT][hapmap]
rs16865291	0.91[JPT][hapmap]
rs16865328	0.81[JPT][hapmap]
rs16865331	0.81[JPT][hapmap]
rs1901824	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1901825	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1901826	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1901829	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2034678	0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2060929	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2084233	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2121430	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2166558	0.91[JPT][hapmap]
rs2364845	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364854	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3769995	0.91[JPT][hapmap]
rs3769996	0.90[JPT][hapmap]
rs3769997	0.91[JPT][hapmap]
rs3770002	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs3813259	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4243388	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4893821	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893822	0.91[JPT][hapmap]
rs4893823	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4893825	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4893931	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4893932	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4893934	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893935	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893936	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893938	0.84[ASN][1000 genomes]
rs4893944	0.81[ASN][1000 genomes]
rs4893950	0.95[JPT][hapmap]
rs4893957	0.90[JPT][hapmap]
rs4893959	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4893961	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4893962	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs59208652	0.89[ASN][1000 genomes]
rs59578457	0.85[ASN][1000 genomes]
rs6710575	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6742951	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7573763	0.84[ASN][1000 genomes]
rs7587604	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7591807	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7604673	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7606235	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs8941	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs952746	0.95[CHB][hapmap];0.95[JPT][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178203400-178244400	Weak transcription	HSMM	muscle
2	chr2:178212000-178224400	Weak transcription	Fetal Heart	heart
3	chr2:178214400-178228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:178216800-178225400	Weak transcription	Ovary	ovary
5	chr2:178218000-178225200	Weak transcription	HSMMtube	muscle
6	chr2:178218000-178256200	Weak transcription	HepG2	liver
7	chr2:178218400-178224200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:178218400-178225000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:178219200-178233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:178219400-178224000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:178219400-178224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:178220200-178221800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:178220200-178223200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:178221000-178225200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:178221200-178222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:178221200-178223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:178221400-178221800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:178221400-178223200	Enhancers	Brain Anterior Caudate	brain
19	chr2:178221400-178223200	Enhancers	Brain Substantia Nigra	brain
20	chr2:178221600-178221800	Enhancers	Brain Angular Gyrus	brain
21	chr2:178221600-178222600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:178221600-178240600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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