Variant report

Variant	rs58164562
Chromosome Location	chr10:112664114-112664115
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	chr10:112629865..112631826-chr10:112663124..112665657,2	K562	blood:
2	chr10:112660652..112664278-chr10:112666505..112669018,4	K562	blood:

Variant related genes	Relation type
ENSG00000150593	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11195405	0.81[EUR][1000 genomes]
rs11558147	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12569835	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12571756	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12572049	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128130	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17128212	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4391757	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55794717	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56233990	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56784382	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56946887	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7067787	0.81[EUR][1000 genomes]
rs7072811	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7073594	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7073880	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73343848	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73343859	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73343879	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73345956	0.81[EUR][1000 genomes]
rs74156313	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678000	Weak transcription	Lung	lung
2	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
3	chr10:112634800-112677400	Weak transcription	HUVEC	blood vessel
4	chr10:112636000-112664400	Strong transcription	Fetal Thymus	thymus
5	chr10:112636400-112664800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:112643000-112667200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:112644200-112664400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:112644200-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:112644800-112664800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr10:112644800-112675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:112646400-112676400	Weak transcription	K562	blood
12	chr10:112647200-112664400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr10:112647200-112677400	Weak transcription	Fetal Brain Male	brain
14	chr10:112649400-112664800	Strong transcription	Primary B cells from cord blood	blood
15	chr10:112651200-112670000	Weak transcription	Fetal Stomach	stomach
16	chr10:112654800-112665000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:112655000-112664600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr10:112655200-112664200	Strong transcription	Primary T cells from cord blood	blood
19	chr10:112656200-112672200	Weak transcription	Fetal Heart	heart
20	chr10:112656200-112677400	Weak transcription	Stomach Mucosa	stomach
21	chr10:112656400-112664600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr10:112656400-112676400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:112656400-112677600	Weak transcription	Right Ventricle	heart
24	chr10:112657200-112672400	Weak transcription	Fetal Intestine Small	intestine
25	chr10:112657200-112675000	Weak transcription	Ovary	ovary
26	chr10:112657400-112664200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr10:112657400-112665200	Weak transcription	Esophagus	oesophagus
28	chr10:112657400-112672800	Weak transcription	HepG2	liver
29	chr10:112657400-112677600	Weak transcription	Psoas Muscle	Psoas
30	chr10:112657400-112677600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:112657400-112677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:112657400-112677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:112657400-112678000	Weak transcription	Gastric	stomach
34	chr10:112657600-112677600	Weak transcription	Fetal Brain Female	brain
35	chr10:112659200-112667000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:112659200-112676400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:112659400-112677600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:112659600-112677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:112659800-112675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:112660200-112676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:112660400-112670200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:112660400-112675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:112660400-112676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:112660400-112677000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:112660600-112677200	Weak transcription	Dnd41	blood
46	chr10:112661000-112667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:112661000-112677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr10:112661000-112677200	Weak transcription	Fetal Intestine Large	intestine
49	chr10:112661200-112676400	Weak transcription	Aorta	Aorta
50	chr10:112661400-112666600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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