Variant report

Variant	rs1901826
Chromosome Location	chr2:178225266-178225267
allele	C/T
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: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10165785	0.80[ASN][1000 genomes]
rs10170546	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs10170667	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap]
rs10176632	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208150	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10497502	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10497503	0.85[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap]
rs10497508	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11893448	0.81[ASN][1000 genomes]
rs12104588	0.86[ASN][1000 genomes]
rs12469386	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs12611938	0.92[ASN][1000 genomes]
rs12614820	0.92[ASN][1000 genomes]
rs12615367	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs12616093	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12618139	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12620035	0.96[ASN][1000 genomes]
rs12693120	0.81[ASN][1000 genomes]
rs13000048	0.95[JPT][hapmap]
rs13004955	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1348848	0.85[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.82[YRI][hapmap]
rs1348849	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs1348850	0.85[JPT][hapmap]
rs1374437	0.85[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap]
rs1453370	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs1453371	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453373	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16865203	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16865216	0.86[ASN][1000 genomes]
rs16865229	0.86[ASN][1000 genomes]
rs16865291	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865328	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs16865331	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1901824	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1901825	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1901829	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2034678	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2060929	0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2084233	0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs2121430	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs2166558	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2364845	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364853	0.80[ASN][1000 genomes]
rs2364854	0.95[JPT][hapmap]
rs3213945	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs3769995	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3769996	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3769997	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3770002	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3813259	0.91[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];0.86[ASN][1000 genomes]
rs3902850	0.84[YRI][hapmap]
rs4243388	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4893821	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4893822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4893823	0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4893824	0.80[ASN][1000 genomes]
rs4893825	0.85[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4893931	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893932	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893934	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4893935	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893936	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4893938	0.86[ASN][1000 genomes]
rs4893941	0.81[ASN][1000 genomes]
rs4893945	0.81[ASN][1000 genomes]
rs4893950	0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap]
rs4893951	0.87[ASN][1000 genomes]
rs4893957	0.81[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap]
rs4893959	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4893961	0.85[JPT][hapmap]
rs4893962	0.85[JPT][hapmap]
rs56942680	0.90[ASN][1000 genomes]
rs57273542	0.87[ASN][1000 genomes]
rs57295810	0.82[ASN][1000 genomes]
rs57527255	0.84[ASN][1000 genomes]
rs57541536	0.84[ASN][1000 genomes]
rs57733896	0.82[ASN][1000 genomes]
rs57948641	0.84[ASN][1000 genomes]
rs58297927	0.84[ASN][1000 genomes]
rs58483300	0.90[ASN][1000 genomes]
rs59111239	0.86[ASN][1000 genomes]
rs59208652	0.83[ASN][1000 genomes]
rs59504156	0.82[ASN][1000 genomes]
rs59578457	0.92[ASN][1000 genomes]
rs59751564	0.95[ASN][1000 genomes]
rs60670838	0.86[ASN][1000 genomes]
rs60733259	0.90[ASN][1000 genomes]
rs6710575	0.85[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap]
rs6742951	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs7573763	0.86[ASN][1000 genomes]
rs7586051	0.81[ASN][1000 genomes]
rs7587604	0.95[JPT][hapmap]
rs7591807	0.90[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs7604673	0.85[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap]
rs7606235	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs8941	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs952746	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1901826	TTN	cis	parietal	SCAN
rs1901826	TTC30B	cis	parietal	SCAN

Chromatin state (count:23 , 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	chr2:178218000-178256200	Weak transcription	HepG2	liver
5	chr2:178219200-178233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:178221600-178240600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:178223200-178225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:178223600-178225600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:178224000-178225400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:178224000-178226000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:178224200-178225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:178224400-178225600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:178224400-178225600	Enhancers	Fetal Heart	heart
14	chr2:178224800-178225400	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:178224800-178225800	Enhancers	Adipose Nuclei	Adipose
16	chr2:178224800-178226400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:178225000-178225800	Enhancers	Fetal Muscle Leg	muscle
18	chr2:178225000-178228600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:178225200-178225400	Enhancers	Brain Substantia Nigra	brain
20	chr2:178225200-178225400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:178225200-178225400	Enhancers	HSMMtube	muscle
22	chr2:178225200-178225600	Enhancers	Fetal Stomach	stomach
23	chr2:178225200-178226000	Enhancers	Brain Inferior Temporal Lobe	brain

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