Variant report

Variant	rs10065319
Chromosome Location	chr5:112372092-112372093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112361859..112364300-chr5:112370845..112373439,3	K562	blood:
2	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10059132	0.86[EUR][1000 genomes]
rs10076751	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10463645	0.85[EUR][1000 genomes]
rs13360862	0.87[AFR][1000 genomes]
rs1422222	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3209874	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4309965	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58280144	0.85[EUR][1000 genomes]
rs6594654	0.85[EUR][1000 genomes]
rs6594655	0.85[EUR][1000 genomes]
rs6594656	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594661	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6876686	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6888851	0.85[EUR][1000 genomes]
rs6888965	0.85[EUR][1000 genomes]
rs6892784	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7033	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7733267	0.85[EUR][1000 genomes]
rs9326868	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
2	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
3	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
5	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:112363600-112379200	Weak transcription	Gastric	stomach
8	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
9	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
11	chr5:112363800-112376200	Weak transcription	Dnd41	blood
12	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
13	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
16	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
18	chr5:112364000-112374600	Weak transcription	Lung	lung
19	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
20	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
23	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
27	chr5:112365600-112376400	Weak transcription	Primary T cells from cord blood	blood
28	chr5:112365800-112376800	Weak transcription	Thymus	Thymus
29	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:112367600-112372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:112367600-112372200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:112367600-112372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:112367600-112378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:112368800-112379400	Strong transcription	Fetal Stomach	stomach
36	chr5:112368800-112382800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:112369000-112379000	Weak transcription	Psoas Muscle	Psoas
38	chr5:112369200-112378800	Weak transcription	Fetal Heart	heart
39	chr5:112369200-112380200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:112369400-112377400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112369400-112382800	Strong transcription	Liver	Liver
42	chr5:112369800-112378000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:112370200-112379200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:112370600-112382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112371000-112372400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:112371000-112372400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:112371000-112372600	Strong transcription	Ovary	ovary
50	chr5:112371000-112373000	Strong transcription	Stomach Smooth Muscle	stomach

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