Variant report

Variant	rs56946887
Chromosome Location	chr10:112701844-112701845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112691670..112694592-chr10:112699465..112702013,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11195405	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11558147	0.85[ASN][1000 genomes]
rs11592715	0.86[ASN][1000 genomes]
rs11599619	0.88[ASN][1000 genomes]
rs12569835	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571756	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12572049	0.93[ASN][1000 genomes]
rs17128130	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128212	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128356	0.91[EUR][1000 genomes]
rs2295992	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4391757	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55794717	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56233990	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56784382	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58164562	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7072811	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073594	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7073880	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73343848	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73343859	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73343879	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73345956	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74156313	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7902347	0.86[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	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
2	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
3	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
4	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
5	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
6	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
7	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112680600-112706800	Weak transcription	Esophagus	oesophagus
2	chr10:112680800-112704600	Weak transcription	Aorta	Aorta
3	chr10:112681000-112704600	Weak transcription	Right Ventricle	heart
4	chr10:112682000-112702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:112682000-112702200	Weak transcription	Brain Germinal Matrix	brain
6	chr10:112682000-112704600	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:112682000-112708400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:112684400-112712600	Weak transcription	HepG2	liver
10	chr10:112685200-112719200	Weak transcription	A549	lung
11	chr10:112689400-112704600	Weak transcription	Left Ventricle	heart
12	chr10:112689600-112714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:112689800-112702200	Weak transcription	Primary T cells from cord blood	blood
14	chr10:112690200-112707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:112690800-112702200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:112691800-112703600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:112692000-112703200	Weak transcription	Liver	Liver
18	chr10:112692000-112722000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr10:112692400-112703600	Weak transcription	NHLF	lung
20	chr10:112692400-112704000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:112692400-112704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:112692400-112705400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:112692400-112719000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:112692400-112719000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:112692400-112724000	Weak transcription	Stomach Mucosa	stomach
26	chr10:112692600-112703200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:112692600-112703200	Weak transcription	Osteobl	bone
28	chr10:112692600-112704600	Weak transcription	Psoas Muscle	Psoas
29	chr10:112692600-112705000	Weak transcription	Fetal Heart	heart
30	chr10:112692600-112705000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:112692600-112706400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:112692600-112713600	Weak transcription	Hela-S3	cervix
33	chr10:112692600-112732400	Weak transcription	Fetal Intestine Large	intestine
34	chr10:112693000-112702200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:112693000-112706800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr10:112693400-112702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:112693400-112704600	Weak transcription	NHEK	skin
38	chr10:112693600-112702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:112693600-112704600	Weak transcription	HMEC	breast
40	chr10:112693600-112706800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:112693600-112706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:112693600-112719200	Weak transcription	Small Intestine	intestine
43	chr10:112693600-112722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:112694000-112702200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:112694600-112703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:112695000-112703200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:112695200-112702000	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:112695200-112709000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:112695400-112703400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:112695400-112722400	Weak transcription	Colonic Mucosa	Colon

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