Variant report

Variant	rs41280225
Chromosome Location	chr9:116023979-116023980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116023106..116028620-chr9:116032404..116039334,10	MCF-7	breast:
2	chr9:116021697..116024612-chr9:116025730..116027476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176386	Chromatin interaction
ENSG00000136875	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10981694	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10981699	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115996000-116031600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:116008200-116037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:116009600-116029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:116010200-116031800	Weak transcription	Fetal Heart	heart
5	chr9:116011400-116028800	Weak transcription	Fetal Kidney	kidney
6	chr9:116017400-116025800	Strong transcription	Fetal Muscle Leg	muscle
7	chr9:116017600-116026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:116017600-116031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:116017800-116025200	Strong transcription	Left Ventricle	heart
10	chr9:116017800-116025400	Strong transcription	Fetal Brain Female	brain
11	chr9:116017800-116026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:116018000-116024600	Weak transcription	HMEC	breast
13	chr9:116018000-116025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:116018000-116027600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:116018200-116024200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:116018200-116026200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:116018400-116024400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:116018400-116024600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:116018400-116024800	Strong transcription	NHEK	skin
20	chr9:116018400-116025200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:116018400-116026000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:116018600-116024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:116018600-116024800	Strong transcription	Primary T cells from cord blood	blood
24	chr9:116018600-116026000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:116018600-116036000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:116018800-116024400	Weak transcription	Fetal Lung	lung
27	chr9:116019000-116025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:116019000-116026000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:116019200-116024800	Strong transcription	HSMMtube	muscle
30	chr9:116019200-116025200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr9:116019200-116025200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:116019200-116025400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:116019200-116028800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr9:116019400-116024200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:116019400-116024600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:116019400-116024800	Strong transcription	Osteobl	bone
37	chr9:116019400-116025200	Strong transcription	Adipose Nuclei	Adipose
38	chr9:116019400-116025400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:116019400-116025800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:116019600-116033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:116019800-116024800	Strong transcription	Brain Substantia Nigra	brain
42	chr9:116019800-116025400	Strong transcription	Placenta	Placenta
43	chr9:116020000-116024800	Strong transcription	GM12878-XiMat	blood
44	chr9:116020000-116025200	Strong transcription	HSMM	muscle
45	chr9:116020000-116029600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:116020200-116024200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:116020200-116025000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr9:116020200-116026000	Strong transcription	Brain Anterior Caudate	brain
49	chr9:116020400-116024800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:116020600-116024400	Strong transcription	Duodenum Mucosa	Duodenum

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