Variant report

Variant	rs2248875
Chromosome Location	chr10:43843676-43843677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43759748..43762740-chr10:43843134..43844747,2	MCF-7	breast:
2	chr10:43842351..43846324-chr10:43890114..43894453,4	MCF-7	breast:
3	chr10:43842635..43844509-chr10:43902658..43905150,2	K562	blood:
4	chr10:43842329..43845784-chr10:43890164..43894425,6	MCF-7	breast:
5	chr10:43842333..43853034-chr10:43900806..43908178,21	MCF-7	breast:
6	chr10:43843009..43845636-chr10:43903650..43906156,2	K562	blood:
7	chr10:43785328..43787796-chr10:43843270..43845965,2	MCF-7	breast:
8	chr10:43760886..43761922-chr10:43843561..43844509,10	MCF-7	breast:
9	chr10:43834919..43837712-chr10:43842377..43845170,3	MCF-7	breast:
10	chr10:43843617..43844600-chr10:43950622..43951351,3	K562	blood:
11	chr10:43843618..43844595-chr10:43957020..43957977,4	K562	blood:
12	chr10:43787979..43788967-chr10:43843516..43844636,5	K562	blood:
13	chr10:43843670..43847999-chr10:43855800..43861023,11	MCF-7	breast:
14	chr10:43837942..43841047-chr10:43842473..43845770,3	MCF-7	breast:
15	chr10:43788331..43789347-chr10:43843553..43844589,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000221468	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2248638	0.83[EUR][1000 genomes]
rs2460534	0.81[ASN][1000 genomes]
rs2460562	0.97[ASN][1000 genomes]
rs2503861	0.91[ASN][1000 genomes]
rs3000706	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322345	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43836600-43846000	Weak transcription	Right Atrium	heart
2	chr10:43838200-43843800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:43838600-43845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43839800-43843800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:43840000-43843800	Weak transcription	Stomach Mucosa	stomach
6	chr10:43843200-43844400	Enhancers	NHEK	skin
7	chr10:43843400-43843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:43843400-43843800	Enhancers	HMEC	breast
9	chr10:43843400-43844000	Enhancers	Primary T cells from cord blood	blood
10	chr10:43843400-43844200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:43843400-43844200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr10:43843400-43844200	Enhancers	Fetal Thymus	thymus
13	chr10:43843400-43844400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr10:43843400-43844400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:43843400-43844400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:43843400-43844400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:43843400-43844400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr10:43843400-43844400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:43843400-43844400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:43843400-43844400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:43843400-43844400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:43843400-43844400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr10:43843400-43844400	Enhancers	Dnd41	blood
24	chr10:43843400-43844400	Enhancers	Hela-S3	cervix
25	chr10:43843400-43844600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:43843400-43844600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:43843400-43844600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:43843400-43844600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr10:43843400-43844600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr10:43843400-43844600	Enhancers	A549	lung
31	chr10:43843400-43844800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:43843400-43844800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:43843400-43844800	Enhancers	Brain Substantia Nigra	brain
34	chr10:43843400-43845600	Enhancers	Brain Hippocampus Middle	brain
35	chr10:43843600-43844000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:43843600-43844000	Enhancers	Primary B cells from cord blood	blood
37	chr10:43843600-43844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:43843600-43844000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr10:43843600-43844200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr10:43843600-43844200	Enhancers	Primary B cells from peripheral blood	blood
41	chr10:43843600-43844200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr10:43843600-43844600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:43843600-43844800	Enhancers	Brain Anterior Caudate	brain
44	chr10:43843600-43845000	Enhancers	Brain Angular Gyrus	brain
45	chr10:43843600-43845400	Enhancers	Brain Cingulate Gyrus	brain

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