Variant report

Variant	rs2233918
Chromosome Location	chr9:116022450-116022451
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	chr9:116021697..116024612-chr9:116025730..116027476,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16926505	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926542	1.00[AMR][1000 genomes]
rs16928811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2233917	0.89[AFR][1000 genomes]
rs28619870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57702101	1.00[AMR][1000 genomes]
rs7032466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7034815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7868348	1.00[AMR][1000 genomes]

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	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
4	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	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	chr9:116017200-116023000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:116017400-116023200	Strong transcription	HepG2	liver
8	chr9:116017400-116023600	Strong transcription	Fetal Intestine Small	intestine
9	chr9:116017400-116025800	Strong transcription	Fetal Muscle Leg	muscle
10	chr9:116017600-116026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:116017600-116031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:116017800-116025200	Strong transcription	Left Ventricle	heart
13	chr9:116017800-116025400	Strong transcription	Fetal Brain Female	brain
14	chr9:116017800-116026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:116018000-116024600	Weak transcription	HMEC	breast
16	chr9:116018000-116025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:116018000-116027600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:116018200-116024200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:116018200-116026200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:116018400-116022600	Strong transcription	NH-A	brain
21	chr9:116018400-116023000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr9:116018400-116024400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:116018400-116024600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:116018400-116024800	Strong transcription	NHEK	skin
25	chr9:116018400-116025200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:116018400-116026000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:116018600-116024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:116018600-116024800	Strong transcription	Primary T cells from cord blood	blood
29	chr9:116018600-116026000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:116018600-116036000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr9:116018800-116024400	Weak transcription	Fetal Lung	lung
32	chr9:116019000-116023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:116019000-116025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:116019000-116026000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:116019200-116022800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:116019200-116023200	Strong transcription	Brain Hippocampus Middle	brain
37	chr9:116019200-116024800	Strong transcription	HSMMtube	muscle
38	chr9:116019200-116025200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr9:116019200-116025200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:116019200-116025400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:116019200-116028800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr9:116019400-116022600	Strong transcription	NHDF-Ad	bronchial
43	chr9:116019400-116023000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr9:116019400-116023200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:116019400-116024200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:116019400-116024600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:116019400-116024800	Strong transcription	Osteobl	bone
48	chr9:116019400-116025200	Strong transcription	Adipose Nuclei	Adipose
49	chr9:116019400-116025400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:116019400-116025800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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