Variant report

Variant	rs1035409
Chromosome Location	chr5:112850963-112850964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112850115..112851621-chr5:112917619..112919519,2	K562	blood:
2	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:
3	chr5:112823583..112825426-chr5:112850163..112852982,2	MCF-7	breast:
4	chr3:156876906..156878652-chr5:112849281..112850980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163660	Chromatin interaction
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10037429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10072577	0.91[ASN][1000 genomes]
rs11739848	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11744710	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11744737	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11745445	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11746529	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11746565	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11747062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11953034	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153791	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13160021	0.82[ASN][1000 genomes]
rs13161610	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161969	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13166822	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13167659	0.91[ASN][1000 genomes]
rs13170908	0.82[ASN][1000 genomes]
rs13171273	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171389	0.83[ASN][1000 genomes]
rs13172774	0.82[ASN][1000 genomes]
rs13180262	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13187776	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs164252	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17332053	0.91[ASN][1000 genomes]
rs17333442	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs182988	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860483	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910017	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914151	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914152	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34158516	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34554590	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34870059	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348919	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348921	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348922	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348923	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348934	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348935	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35077609	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35274088	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35364742	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3763141	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs414475	0.91[ASN][1000 genomes]
rs419483	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421515	0.91[ASN][1000 genomes]
rs4410636	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4705554	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705829	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58479323	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594727	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838021	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67382821	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67881502	0.82[ASN][1000 genomes]
rs68131815	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71577453	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7703186	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705255	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7736165	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112848800-112851000	Active TSS	A549	lung
2	chr5:112848800-112851400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112849000-112851200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:112849000-112851200	Active TSS	HMEC	breast
5	chr5:112849000-112851400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:112849000-112851400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:112849000-112851400	Active TSS	NHLF	lung
8	chr5:112849200-112851000	Active TSS	GM12878-XiMat	blood
9	chr5:112850000-112852000	Flanking Active TSS	HUVEC	blood vessel
10	chr5:112850200-112851000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:112850200-112851200	Weak transcription	Small Intestine	intestine
12	chr5:112850200-112851200	Flanking Active TSS	Dnd41	blood
13	chr5:112850400-112851200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:112850400-112851200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:112850400-112851400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:112850400-112851600	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:112850400-112852000	Weak transcription	Fetal Thymus	thymus
18	chr5:112850400-112852800	Weak transcription	Fetal Lung	lung
19	chr5:112850400-112853000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:112850400-112853000	Weak transcription	HSMM	muscle
21	chr5:112850400-112853200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:112850400-112853200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:112850400-112853400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:112850400-112855600	Weak transcription	Left Ventricle	heart
25	chr5:112850400-112856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:112850400-112856200	Weak transcription	Ovary	ovary
27	chr5:112850400-112856200	Weak transcription	Thymus	Thymus
28	chr5:112850400-112857800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:112850400-112858200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:112850400-112863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:112850400-112866600	Weak transcription	Esophagus	oesophagus
32	chr5:112850400-112866600	Weak transcription	Placenta	Placenta
33	chr5:112850400-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:112850400-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:112850400-112866800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:112850400-112866800	Weak transcription	Aorta	Aorta
37	chr5:112850400-112866800	Weak transcription	Lung	lung
38	chr5:112850400-112867000	Weak transcription	Pancreas	Pancrea
39	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:112850400-112879200	Weak transcription	Gastric	stomach
41	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
42	chr5:112850600-112851000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:112850600-112851000	Enhancers	Liver	Liver
44	chr5:112850600-112851000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:112850600-112851000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:112850600-112851200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:112850600-112851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:112850600-112851200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:112850600-112851200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:112850600-112851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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