Variant report

Variant	rs10057956
Chromosome Location	chr5:7903794-7903795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7867749..7869978-chr5:7901913..7904399,2	K562	blood:
2	chr5:7903532..7905536-chr5:9562936..9564513,2	MCF-7	breast:
3	chr5:7897897..7900344-chr5:7900899..7905029,3	MCF-7	breast:
4	chr5:7890500..7892516-chr5:7901778..7905024,3	K562	blood:

Variant related genes	Relation type
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10039165	0.88[YRI][hapmap]

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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7871200-7903800	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:7871400-7903800	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:7871600-7905000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:7871600-7906400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:7871600-7906800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:7871800-7907400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:7873400-7904000	Strong transcription	Hela-S3	cervix
8	chr5:7874000-7905400	Strong transcription	Primary T cells from cord blood	blood
9	chr5:7874000-7909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:7875000-7906600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:7875400-7903800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:7875400-7904200	Strong transcription	Primary hematopoietic stem cells	blood
13	chr5:7875400-7904400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:7875600-7904400	Strong transcription	Left Ventricle	heart
15	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:7879200-7906400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:7880400-7906600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:7880600-7907000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:7880800-7903800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:7881000-7904400	Strong transcription	Fetal Intestine Large	intestine
21	chr5:7882400-7905000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:7885400-7904000	Strong transcription	A549	lung
23	chr5:7885400-7904800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:7887600-7906800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:7888200-7904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:7888200-7904000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:7888200-7904200	Strong transcription	Liver	Liver
28	chr5:7888400-7904000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:7888400-7904200	Strong transcription	Placenta	Placenta
30	chr5:7888400-7906400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:7888600-7904000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:7888600-7904200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:7888600-7906600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:7889200-7903800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:7891400-7906200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:7892400-7903800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:7892800-7904000	Strong transcription	Fetal Lung	lung
38	chr5:7894800-7904200	Strong transcription	Adipose Nuclei	Adipose
39	chr5:7894800-7905800	Strong transcription	Brain Anterior Caudate	brain
40	chr5:7894800-7906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:7895200-7904000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:7895400-7903800	Strong transcription	GM12878-XiMat	blood
43	chr5:7895400-7909600	Weak transcription	Fetal Heart	heart
44	chr5:7895600-7904400	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:7895800-7904200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:7896800-7903800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:7898400-7904000	Strong transcription	Lung	lung
48	chr5:7898400-7904200	Strong transcription	Thymus	Thymus
49	chr5:7898400-7904400	Strong transcription	Brain Germinal Matrix	brain
50	chr5:7899000-7904000	Weak transcription	Stomach Mucosa	stomach

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