Variant report

Variant	rs2864496
Chromosome Location	chr18:9402958-9402959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9401819..9404534-chr18:9474029..9476633,3	MCF-7	breast:
2	chr18:9402400..9404038-chr18:9411064..9413182,2	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11081476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1507610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1507611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1605475	1.00[AMR][1000 genomes]
rs2864492	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56215503	1.00[AMR][1000 genomes]
rs60060452	1.00[AMR][1000 genomes]
rs6506657	1.00[AMR][1000 genomes]
rs6506658	1.00[AMR][1000 genomes]
rs6506662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7236178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359718	1.00[AMR][1000 genomes]
rs73939838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939850	1.00[AMR][1000 genomes]
rs73939851	1.00[AMR][1000 genomes]
rs8085686	1.00[AMR][1000 genomes]
rs8090712	1.00[AMR][1000 genomes]
rs8098555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
3	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
5	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
6	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:9387200-9403600	Weak transcription	K562	blood
8	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:9389400-9405400	Weak transcription	Lung	lung
12	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:9391000-9403800	Weak transcription	Gastric	stomach
15	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9392000-9403800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:9392200-9403400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
19	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
23	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
24	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:9395200-9403600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr18:9395400-9404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr18:9395400-9404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr18:9395600-9406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:9396600-9413800	Weak transcription	NH-A	brain
30	chr18:9396800-9404200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
32	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:9397400-9403000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:9397400-9406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:9397600-9404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:9397800-9403000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:9397800-9416600	Weak transcription	HSMM	muscle
38	chr18:9398400-9403600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:9398400-9404400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr18:9399000-9404400	Weak transcription	Right Atrium	heart
41	chr18:9399200-9404800	Weak transcription	Ovary	ovary
42	chr18:9399600-9403200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:9400400-9403200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:9400400-9403400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:9400600-9403400	Weak transcription	NHLF	lung
47	chr18:9400600-9404000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:9400600-9413400	Weak transcription	Osteobl	bone
49	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
50	chr18:9400800-9408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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