Variant report

Variant	rs41398051
Chromosome Location	chr8:125706410-125706411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125699774..125701577-chr8:125704384..125706753,2	K562	blood:
2	chr8:125549825..125551523-chr8:125704908..125707139,2	MCF-7	breast:
3	chr8:125703204..125704827-chr8:125704961..125706579,2	MCF-7	breast:
4	chr8:125697915..125700956-chr8:125703472..125706654,3	K562	blood:
5	chr8:125704431..125707211-chr8:125707702..125710134,3	K562	blood:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12547677	1.00[LWK][hapmap]
rs16899942	1.00[MEX][hapmap]
rs16899956	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125701400-125711400	Weak transcription	HSMMtube	muscle
3	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
6	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:125701800-125714800	Weak transcription	NHEK	skin
8	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125702600-125710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125702600-125711000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
13	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:125702800-125707400	Weak transcription	Fetal Heart	heart
15	chr8:125702800-125711200	Weak transcription	Placenta	Placenta
16	chr8:125702800-125711600	Weak transcription	Psoas Muscle	Psoas
17	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
18	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
20	chr8:125703000-125709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:125703000-125711000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:125703000-125711000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:125703000-125711200	Weak transcription	Osteobl	bone
24	chr8:125703000-125711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125703000-125711400	Weak transcription	Right Atrium	heart
26	chr8:125703000-125711400	Weak transcription	NHDF-Ad	bronchial
27	chr8:125703000-125711600	Weak transcription	NHLF	lung
28	chr8:125703000-125711800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
30	chr8:125703400-125711200	Weak transcription	Fetal Brain Male	brain
31	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:125703600-125711600	Weak transcription	Brain Angular Gyrus	brain
33	chr8:125704200-125707800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr8:125704400-125707800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:125704400-125710000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:125704400-125711400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:125704600-125707000	Strong transcription	Primary B cells from cord blood	blood
38	chr8:125704800-125706600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:125704800-125707000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:125704800-125707000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:125704800-125707000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:125704800-125707200	Strong transcription	Adipose Nuclei	Adipose
43	chr8:125704800-125708000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr8:125704800-125708000	Enhancers	K562	blood
45	chr8:125704800-125708400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:125704800-125711600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:125705000-125706800	Strong transcription	HMEC	breast
49	chr8:125705000-125707000	Strong transcription	Fetal Brain Female	brain
50	chr8:125705000-125711600	Weak transcription	Small Intestine	intestine

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