Variant report

Variant	rs7812405
Chromosome Location	chr8:105536592-105536593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105534479..105537318-chr8:105685417..105687384,2	K562	blood:
2	chr8:105533183..105536840-chr8:105546219..105548780,3	K562	blood:
3	chr8:105536142..105538633-chr8:105600457..105602580,2	MCF-7	breast:
4	chr8:105529380..105531604-chr8:105534787..105536889,2	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10429351	1.00[EUR][1000 genomes]
rs11989225	1.00[EUR][1000 genomes]
rs35163714	0.81[AFR][1000 genomes]
rs57061880	0.87[AFR][1000 genomes]
rs57149580	0.87[AFR][1000 genomes]
rs61129183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61360760	0.87[AFR][1000 genomes]
rs6468937	0.83[AMR][1000 genomes]
rs6998025	1.00[EUR][1000 genomes]
rs7016642	0.83[AMR][1000 genomes]
rs73293290	0.81[AFR][1000 genomes]
rs73293292	0.81[AFR][1000 genomes]
rs73293298	0.81[AFR][1000 genomes]
rs73295105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295108	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295119	0.83[AMR][1000 genomes]
rs73295122	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295137	0.83[AMR][1000 genomes]
rs73295148	0.81[AFR][1000 genomes]
rs73295155	0.81[AFR][1000 genomes]
rs73295157	0.81[AFR][1000 genomes]
rs7813481	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7824866	0.83[AMR][1000 genomes]
rs7832864	0.87[AFR][1000 genomes]
rs7833483	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105510200-105546200	Weak transcription	HMEC	breast
3	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
4	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:105520600-105537400	Weak transcription	NH-A	brain
9	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:105527200-105543000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:105530200-105540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:105530200-105542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:105531400-105544600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:105531600-105540000	Weak transcription	Fetal Thymus	thymus
19	chr8:105531600-105540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:105531600-105542200	Weak transcription	Thymus	Thymus
21	chr8:105533200-105551400	Weak transcription	HSMM	muscle
22	chr8:105533400-105539000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:105534000-105540000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:105534800-105544400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:105534800-105549400	Weak transcription	Osteobl	bone
26	chr8:105535200-105544200	Weak transcription	Ovary	ovary
27	chr8:105535600-105536800	Genic enhancers	K562	blood
28	chr8:105535600-105537400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:105535800-105541800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:105535800-105542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:105535800-105542600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:105536200-105540000	Weak transcription	Dnd41	blood
34	chr8:105536200-105541000	Weak transcription	A549	lung
35	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:105536400-105536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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