Variant report

Variant	rs11195378
Chromosome Location	chr10:112689652-112689653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112679221..112681278-chr10:112688313..112690561,2	MCF-7	breast:
2	chr10:112687917..112690279-chr10:112697395..112700358,2	K562	blood:
3	chr10:112677343..112684329-chr10:112684383..112692296,16	K562	blood:
4	chr10:112684337..112687273-chr10:112688829..112691031,2	K562	blood:

Variant related genes	Relation type
ENSG00000108061	Chromatin interaction
ENSG00000214413	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11195357	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11195384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11195386	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11195389	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195392	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11195393	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12240492	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12244153	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12244273	0.87[AFR][1000 genomes]
rs12245003	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12248431	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12248632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248739	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12249521	0.82[ASN][1000 genomes]
rs12255335	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12256152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258923	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12266042	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12267661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12268160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12268606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1327552	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1341055	0.86[AMR][1000 genomes]
rs1410052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1538998	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128099	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128102	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128270	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3750621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4917593	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4918620	0.82[ASN][1000 genomes]
rs55879225	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56005122	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56302131	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56350255	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72819772	0.83[ASN][1000 genomes]
rs9804245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:81 , 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	chr10:112681000-112690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:112681000-112690800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:112681000-112692200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:112681000-112692400	Weak transcription	Right Atrium	heart
11	chr10:112681000-112696400	Weak transcription	Fetal Stomach	stomach
12	chr10:112681000-112696600	Weak transcription	Thymus	Thymus
13	chr10:112681000-112704600	Weak transcription	Right Ventricle	heart
14	chr10:112681200-112692000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:112681400-112691600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:112682000-112691600	Weak transcription	NHEK	skin
17	chr10:112682000-112700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:112682000-112702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:112682000-112702200	Weak transcription	Brain Germinal Matrix	brain
20	chr10:112682000-112704600	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:112682000-112708400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:112683000-112692000	Weak transcription	HSMM	muscle
24	chr10:112683000-112700800	Weak transcription	Dnd41	blood
25	chr10:112683200-112694000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr10:112684000-112691000	Weak transcription	Stomach Mucosa	stomach
27	chr10:112684200-112690000	Weak transcription	Liver	Liver
28	chr10:112684200-112691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:112684200-112691400	Weak transcription	Fetal Heart	heart
30	chr10:112684200-112691400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr10:112684200-112691800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:112684200-112691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:112684200-112692000	Weak transcription	Hela-S3	cervix
34	chr10:112684200-112692200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:112684200-112696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:112684200-112700800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:112684200-112701000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:112684400-112690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:112684400-112696600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:112684400-112712600	Weak transcription	HepG2	liver
41	chr10:112684600-112691600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:112684800-112691800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:112684800-112696400	Weak transcription	Spleen	Spleen
44	chr10:112685200-112719200	Weak transcription	A549	lung
45	chr10:112685600-112691800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:112685600-112695800	Weak transcription	Fetal Intestine Small	intestine
47	chr10:112686000-112690200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr10:112687600-112691600	Weak transcription	Adipose Nuclei	Adipose
49	chr10:112687600-112691600	Weak transcription	Brain Anterior Caudate	brain
50	chr10:112687600-112697800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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