Variant report

Variant	rs73343847
Chromosome Location	chr10:112682257-112682258
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112681147..112682837-chr10:112696767..112699592,2	K562	blood:

Variant related genes	Relation type
ENSG00000234118	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56786997	0.92[AFR][1000 genomes]
rs56875008	0.84[AFR][1000 genomes]
rs61156928	0.92[AFR][1000 genomes]
rs61333522	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343813	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343862	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343895	0.94[AFR][1000 genomes]
rs73343897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343899	0.90[AFR][1000 genomes]
rs73345906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345924	0.92[AFR][1000 genomes]
rs73347720	0.86[AFR][1000 genomes]
rs73360854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73360865	1.00[AMR][1000 genomes]
rs73360869	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112677400-112684000	Active TSS	GM12878-XiMat	blood
2	chr10:112678000-112682600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:112680200-112684000	Weak transcription	Spleen	Spleen
4	chr10:112680200-112687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:112680400-112683200	Weak transcription	Stomach Mucosa	stomach
6	chr10:112680400-112684000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:112680600-112684000	Weak transcription	Gastric	stomach
8	chr10:112680600-112692400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:112680600-112696600	Weak transcription	Lung	lung
10	chr10:112680600-112706800	Weak transcription	Esophagus	oesophagus
11	chr10:112680800-112682400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:112680800-112682600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:112680800-112682800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:112680800-112682800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr10:112680800-112683400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:112680800-112683800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr10:112680800-112683800	Weak transcription	Small Intestine	intestine
18	chr10:112680800-112684000	Weak transcription	Left Ventricle	heart
19	chr10:112680800-112684200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:112680800-112687800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr10:112680800-112691800	Weak transcription	Ovary	ovary
22	chr10:112680800-112691800	Weak transcription	Psoas Muscle	Psoas
23	chr10:112680800-112704600	Weak transcription	Aorta	Aorta
24	chr10:112681000-112682400	Enhancers	HSMM	muscle
25	chr10:112681000-112682800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr10:112681000-112682800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr10:112681000-112683200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:112681000-112683200	Weak transcription	Fetal Intestine Large	intestine
29	chr10:112681000-112683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:112681000-112683400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:112681000-112683400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:112681000-112683400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:112681000-112684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:112681000-112684200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr10:112681000-112684200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:112681000-112684200	Enhancers	Colon Smooth Muscle	Colon
37	chr10:112681000-112687200	Weak transcription	Brain Angular Gyrus	brain
38	chr10:112681000-112687800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:112681000-112687800	Weak transcription	NH-A	brain
40	chr10:112681000-112690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:112681000-112690800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:112681000-112692200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr10:112681000-112692400	Weak transcription	Right Atrium	heart
44	chr10:112681000-112696400	Weak transcription	Fetal Stomach	stomach
45	chr10:112681000-112696600	Weak transcription	Thymus	Thymus
46	chr10:112681000-112704600	Weak transcription	Right Ventricle	heart
47	chr10:112681200-112683400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr10:112681200-112692000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:112681400-112682400	Enhancers	Primary T cells from cord blood	blood
50	chr10:112681400-112683000	Enhancers	Dnd41	blood

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