Variant report

Variant	rs7905715
Chromosome Location	chr10:50381231-50381232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50380358..50383451-chr10:50384690..50387473,3	MCF-7	breast:
2	chr10:50362714..50364544-chr10:50380646..50383055,2	K562	blood:
3	chr10:50338354..50340980-chr10:50380795..50383711,2	K562	blood:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10508911	0.95[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs10857434	0.95[CEU][hapmap];0.84[TSI][hapmap]
rs11100985	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs11100994	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11814277	0.90[CEU][hapmap];1.00[CHD][hapmap]
rs11814668	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11815070	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11816318	0.90[CEU][hapmap]
rs11817325	0.90[CEU][hapmap]
rs17011692	0.90[CEU][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap]
rs17011715	0.90[CEU][hapmap]
rs17011726	0.90[CEU][hapmap];0.87[TSI][hapmap]
rs17011755	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs17011799	0.95[CEU][hapmap];1.00[CHD][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs17773666	0.95[CEU][hapmap];0.86[LWK][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17774010	0.88[AMR][1000 genomes]
rs17774028	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17774058	1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[AMR][1000 genomes]
rs4272720	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs4453139	0.89[CEU][hapmap]
rs45563932	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55648711	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55872223	0.81[EUR][1000 genomes]
rs55936311	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56081724	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56197478	0.81[EUR][1000 genomes]
rs7073558	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7073561	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72785044	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785050	0.85[EUR][1000 genomes]
rs72785051	0.85[EUR][1000 genomes]
rs72785060	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72785072	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72785076	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785084	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72785087	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72786903	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72789086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72789089	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789095	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72789097	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7900761	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7919424	0.96[AFR][1000 genomes];0.91[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7905715	PTPRU	trans	parietal	SCAN
rs7905715	C10orf128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50367600-50384600	Weak transcription	Dnd41	blood
3	chr10:50372000-50384000	Weak transcription	Colonic Mucosa	Colon
4	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea
5	chr10:50373200-50385200	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:50373600-50383000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:50375000-50384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:50375400-50382600	Weak transcription	Lung	lung
9	chr10:50376400-50381800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
11	chr10:50377400-50382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:50377800-50384000	Weak transcription	NHDF-Ad	bronchial
13	chr10:50378000-50381800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:50378000-50386000	Enhancers	Fetal Muscle Leg	muscle
15	chr10:50378000-50388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:50378600-50384800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:50379200-50381600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50379600-50382000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr10:50379600-50383800	Enhancers	Primary B cells from cord blood	blood
20	chr10:50379800-50382400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr10:50380200-50385200	Weak transcription	HSMMtube	muscle
22	chr10:50380400-50386600	Enhancers	Right Ventricle	heart
23	chr10:50380600-50381400	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:50380600-50381400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:50380600-50381600	Enhancers	Right Atrium	heart
26	chr10:50380600-50381800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr10:50380600-50381800	Enhancers	Brain Substantia Nigra	brain
28	chr10:50380600-50386400	Enhancers	Fetal Muscle Trunk	muscle
29	chr10:50380800-50381400	Weak transcription	Adipose Nuclei	Adipose
30	chr10:50380800-50381600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:50381000-50381400	Weak transcription	Esophagus	oesophagus
32	chr10:50381000-50382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:50381000-50382200	Flanking Active TSS	K562	blood
34	chr10:50381000-50384000	Weak transcription	Spleen	Spleen
35	chr10:50381000-50384200	Weak transcription	Fetal Thymus	thymus
36	chr10:50381000-50385000	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:50381200-50381600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:50381200-50381600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr10:50381200-50381600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:50381200-50382200	Weak transcription	GM12878-XiMat	blood
41	chr10:50381200-50384800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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