Variant report

Variant	rs2922845
Chromosome Location	chr8:6428963-6428964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6428889..6430599-chr8:6628559..6630714,2	K562	blood:
2	chr8:6427802..6430187-chr8:6431703..6433459,2	K562	blood:
3	chr8:6280960..6282945-chr8:6426818..6429637,2	K562	blood:
4	chr8:6428484..6430187-chr8:6431703..6433737,2	K562	blood:
5	chr8:6426332..6429176-chr8:6564535..6567216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155189	Chromatin interaction
ENSG00000249898	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10101475	0.93[ASN][1000 genomes]
rs11996740	1.00[CHB][hapmap]
rs12543837	1.00[CHB][hapmap]
rs12546205	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12547077	1.00[CHB][hapmap]
rs12549365	1.00[CHB][hapmap]
rs17063453	0.98[ASN][1000 genomes]
rs17077566	0.82[ASN][1000 genomes]
rs17077573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17553929	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs17553964	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17554274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17623747	0.89[CHB][hapmap]
rs17624022	1.00[CHB][hapmap]
rs17624399	1.00[CHB][hapmap]
rs17624865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2442528	0.82[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs2442532	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2442548	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2442549	0.84[ASN][1000 genomes]
rs2442550	0.84[ASN][1000 genomes]
rs2442551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2442553	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2515514	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515516	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2922826	1.00[CHB][hapmap]
rs2922840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2922841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2922842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2922843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2959776	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2959777	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3739390	1.00[CHB][hapmap]
rs3739391	0.86[EUR][1000 genomes]
rs3739392	1.00[CHB][hapmap]
rs73661407	0.84[ASN][1000 genomes]
rs7817104	1.00[CHB][hapmap]
rs7820827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7833871	1.00[CHB][hapmap]
rs7838154	1.00[CHB][hapmap]

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	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6416800-6442400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:6417600-6442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
5	chr8:6420800-6429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:6420800-6433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:6421000-6435400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:6421200-6436200	Weak transcription	Right Atrium	heart
9	chr8:6421400-6433200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
11	chr8:6424200-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:6424400-6434400	Weak transcription	Lung	lung
13	chr8:6424400-6442800	Weak transcription	NHEK	skin
14	chr8:6424600-6433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:6424800-6430200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:6424800-6436600	Weak transcription	Esophagus	oesophagus
17	chr8:6424800-6440600	Weak transcription	Primary T cells from cord blood	blood
18	chr8:6424800-6442200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:6424800-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:6424800-6451600	Weak transcription	Spleen	Spleen
21	chr8:6425000-6432800	Weak transcription	Pancreas	Pancrea
22	chr8:6425200-6429000	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:6425200-6430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:6425800-6430400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:6426200-6433200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:6426400-6433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:6426400-6442800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:6426600-6442800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:6427400-6429400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:6427400-6432600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:6427600-6435600	Weak transcription	Ovary	ovary
32	chr8:6427800-6451200	Weak transcription	Adipose Nuclei	Adipose
33	chr8:6428200-6429000	Weak transcription	Fetal Brain Male	brain
34	chr8:6428200-6429600	Weak transcription	Fetal Brain Female	brain
35	chr8:6428200-6430000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:6428200-6430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:6428200-6430000	Weak transcription	NHDF-Ad	bronchial
38	chr8:6428200-6430200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:6428200-6430200	Weak transcription	Placenta	Placenta
40	chr8:6428200-6430200	Weak transcription	Fetal Thymus	thymus
41	chr8:6428200-6431400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:6428200-6433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:6428200-6435400	Weak transcription	Aorta	Aorta
44	chr8:6428200-6435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:6428200-6440800	Weak transcription	Thymus	Thymus
46	chr8:6428200-6441000	Weak transcription	Fetal Kidney	kidney
47	chr8:6428200-6442200	Weak transcription	HSMM	muscle
48	chr8:6428200-6450800	Weak transcription	Left Ventricle	heart
49	chr8:6428400-6430200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:6428400-6439400	Weak transcription	Fetal Stomach	stomach

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