Variant report

Variant	rs11988531
Chromosome Location	chr8:61474039-61474040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61428999..61430549-chr8:61472398..61474659,2	MCF-7	breast:
2	chr8:61471508..61475092-chr8:61475799..61479657,3	K562	blood:

Variant related genes	Relation type
ENSG00000251396	Chromatin interaction
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11987507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989127	1.00[AMR][1000 genomes]
rs11992608	1.00[AMR][1000 genomes]
rs11993479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1534849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61434800-61480600	Weak transcription	HMEC	breast
2	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
3	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
7	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
8	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:61457800-61475800	Weak transcription	K562	blood
10	chr8:61458200-61480600	Weak transcription	Gastric	stomach
11	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:61461200-61474200	Weak transcription	Fetal Kidney	kidney
14	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
15	chr8:61466000-61474200	Weak transcription	Right Atrium	heart
16	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
17	chr8:61466600-61474800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:61467000-61476000	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
20	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
21	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
23	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:61470000-61477200	Strong transcription	Primary T cells from cord blood	blood
25	chr8:61470200-61478000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61470400-61476800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:61470600-61474200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:61470600-61474600	Weak transcription	Small Intestine	intestine
29	chr8:61470800-61476400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:61470800-61477000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:61470800-61478000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:61471200-61474200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:61471200-61475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:61471200-61475000	Strong transcription	Fetal Thymus	thymus
35	chr8:61471400-61474400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:61471400-61474800	Strong transcription	HSMM	muscle
37	chr8:61471400-61475200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:61471400-61476200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:61471400-61477800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:61471400-61477800	Strong transcription	Dnd41	blood
41	chr8:61471600-61474200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:61471600-61475000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:61471600-61475400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:61471600-61477800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:61471800-61474200	Weak transcription	NHLF	lung
46	chr8:61471800-61474800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:61471800-61474800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:61471800-61475200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:61471800-61476600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:61471800-61477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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