Variant report

Variant	rs2123646
Chromosome Location	chr8:95952016-95952017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95942270..95944492-chr8:95951412..95952960,2	K562	blood:
2	chr8:95943585..95953194-chr8:95954184..95962168,12	MCF-7	breast:
3	chr8:95950598..95952633-chr8:95958047..95959890,2	K562	blood:
4	chr8:95906394..95908643-chr8:95950499..95952500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10106630	1.00[EUR][1000 genomes]
rs524678	0.81[YRI][hapmap];0.87[AFR][1000 genomes]
rs6983485	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs73697052	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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 target site	61 gene(s)	inside rSNPs	diseases
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95935200-95956400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:95936400-95956800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95937000-95956800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:95937200-95953400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:95937200-95956000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:95938400-95954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:95938400-95954200	Strong transcription	NHDF-Ad	bronchial
9	chr8:95939000-95954000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:95941600-95953400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:95941800-95952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:95941800-95953200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:95941800-95953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:95941800-95953200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:95941800-95953800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:95942000-95953200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:95942000-95953200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95942200-95953400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:95944200-95953400	Strong transcription	HSMM	muscle
20	chr8:95944600-95957000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95946600-95952200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:95946800-95952800	Strong transcription	Primary B cells from cord blood	blood
23	chr8:95946800-95953000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:95946800-95953200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:95946800-95953200	Strong transcription	Fetal Thymus	thymus
26	chr8:95946800-95956000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:95947000-95953200	Strong transcription	Brain Anterior Caudate	brain
28	chr8:95947000-95953400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr8:95947000-95953600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:95947000-95956000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:95947200-95952200	Strong transcription	Colon Smooth Muscle	Colon
32	chr8:95947200-95953400	Strong transcription	Fetal Kidney	kidney
33	chr8:95947200-95954800	Strong transcription	Osteobl	bone
34	chr8:95947200-95957400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:95947400-95953000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:95947400-95953200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr8:95947400-95953200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:95947400-95953200	Strong transcription	HMEC	breast
39	chr8:95947400-95953400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:95947400-95953600	Strong transcription	NH-A	brain
41	chr8:95947400-95956400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:95947400-95956400	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:95947600-95952600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:95947600-95953200	Strong transcription	Adipose Nuclei	Adipose
45	chr8:95947600-95953400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:95947600-95953400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:95947600-95955000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:95947600-95956200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:95947800-95952800	Strong transcription	Primary T cells from cord blood	blood
50	chr8:95947800-95953000	Strong transcription	Brain Cingulate Gyrus	brain

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