Variant report

Variant	rs4918612
Chromosome Location	chr10:112691695-112691696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112548423..112550436-chr10:112690605..112692339,2	K562	blood:
2	chr10:112691219..112695362-chr10:112695848..112700041,5	MCF-7	breast:
3	chr10:112677343..112684329-chr10:112684383..112692296,16	K562	blood:
4	chr10:112691670..112694592-chr10:112699465..112702013,2	K562	blood:

Variant related genes	Relation type
ENSG00000108061	Chromatin interaction
ENSG00000234118	Chromatin interaction
ENSG00000214413	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10444029	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10787288	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10885062	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10885063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885066	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10885067	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885068	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10885070	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10885074	0.83[AFR][1000 genomes]
rs10885079	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11195360	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11195382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11195400	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11195406	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12416020	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1327549	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1327551	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1327555	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1407696	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4335469	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4597005	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4918613	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4918614	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7079511	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7901832	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7904892	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7909407	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7915073	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7915214	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112680600-112692400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:112680600-112696600	Weak transcription	Lung	lung
3	chr10:112680600-112706800	Weak transcription	Esophagus	oesophagus
4	chr10:112680800-112691800	Weak transcription	Ovary	ovary
5	chr10:112680800-112691800	Weak transcription	Psoas Muscle	Psoas
6	chr10:112680800-112704600	Weak transcription	Aorta	Aorta
7	chr10:112681000-112692200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:112681000-112692400	Weak transcription	Right Atrium	heart
9	chr10:112681000-112696400	Weak transcription	Fetal Stomach	stomach
10	chr10:112681000-112696600	Weak transcription	Thymus	Thymus
11	chr10:112681000-112704600	Weak transcription	Right Ventricle	heart
12	chr10:112681200-112692000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:112682000-112700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:112682000-112702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:112682000-112702200	Weak transcription	Brain Germinal Matrix	brain
16	chr10:112682000-112704600	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:112682000-112708400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr10:112683000-112692000	Weak transcription	HSMM	muscle
20	chr10:112683000-112700800	Weak transcription	Dnd41	blood
21	chr10:112683200-112694000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:112684200-112691800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:112684200-112691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:112684200-112692000	Weak transcription	Hela-S3	cervix
25	chr10:112684200-112692200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:112684200-112696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:112684200-112700800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:112684200-112701000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:112684400-112696600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:112684400-112712600	Weak transcription	HepG2	liver
31	chr10:112684800-112691800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:112684800-112696400	Weak transcription	Spleen	Spleen
33	chr10:112685200-112719200	Weak transcription	A549	lung
34	chr10:112685600-112691800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:112685600-112695800	Weak transcription	Fetal Intestine Small	intestine
36	chr10:112687600-112697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:112688200-112696800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:112688600-112691800	Weak transcription	Gastric	stomach
39	chr10:112688600-112696000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr10:112688600-112696400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:112688600-112696600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:112688600-112697000	Weak transcription	Fetal Brain Female	brain
43	chr10:112688800-112691800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:112688800-112693400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:112689200-112697200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:112689400-112692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:112689400-112692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:112689400-112704600	Weak transcription	Left Ventricle	heart
49	chr10:112689600-112691800	Weak transcription	Pancreas	Pancrea
50	chr10:112689600-112693600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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