Variant report

Variant	rs10504160
Chromosome Location	chr8:55013096-55013097
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:55010890..55013599-chr8:55056433..55059069,2	MCF-7	breast:
2	chr8:54934501..54937318-chr8:55011753..55013857,2	K562	blood:
3	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
4	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
5	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
6	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
7	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:
8	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
9	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
10	chr8:55011657..55013589-chr8:55059186..55062088,2	K562	blood:
11	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147509	Chromatin interaction
ENSG00000137547	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000251835	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081501	0.87[MKK][hapmap];0.83[YRI][hapmap]
rs10095679	0.82[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs10100207	0.87[MKK][hapmap];0.83[YRI][hapmap]
rs10101967	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	1.00[ASW][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	1.00[AMR][1000 genomes]
rs28620338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28813536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking 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 target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
2	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
3	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:55000200-55013400	Weak transcription	Ovary	ovary
6	chr8:55002800-55013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:55004800-55013200	Weak transcription	Fetal Stomach	stomach
8	chr8:55005800-55013400	Weak transcription	Gastric	stomach
9	chr8:55006200-55013400	Weak transcription	Left Ventricle	heart
10	chr8:55007200-55013200	Weak transcription	Aorta	Aorta
11	chr8:55007200-55013800	Weak transcription	Spleen	Spleen
12	chr8:55010400-55013200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:55011200-55013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:55011200-55013600	Weak transcription	Lung	lung
15	chr8:55011600-55013200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:55011800-55013200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr8:55012000-55013200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:55012200-55013200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
19	chr8:55012200-55013400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:55012200-55014800	Active TSS	Hela-S3	cervix
21	chr8:55012200-55015200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:55012400-55013400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:55012400-55013400	Flanking Active TSS	HUVEC	blood vessel
24	chr8:55012400-55013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:55012400-55013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:55012400-55014600	Active TSS	NHEK	skin
27	chr8:55012400-55014800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:55012400-55015400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:55012600-55013200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:55012600-55013200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr8:55012600-55013200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:55012600-55013200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr8:55012600-55013200	Enhancers	Fetal Muscle Leg	muscle
34	chr8:55012600-55013400	Flanking Active TSS	Dnd41	blood
35	chr8:55012600-55013800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:55012600-55014200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:55012600-55014600	Active TSS	HMEC	breast
38	chr8:55012600-55014800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr8:55012600-55014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:55012600-55014800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:55012600-55014800	Active TSS	A549	lung
42	chr8:55012600-55014800	Active TSS	GM12878-XiMat	blood
43	chr8:55012800-55013200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:55012800-55013200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:55012800-55013200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:55012800-55013200	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:55012800-55013200	Enhancers	Small Intestine	intestine
48	chr8:55012800-55013400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:55012800-55013400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:55012800-55013400	Enhancers	Rectal Smooth Muscle	rectum

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