Variant report

Variant	rs2509319
Chromosome Location	chr11:102233746-102233747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1275852	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1298369	0.93[AFR][1000 genomes]
rs480608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs516351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102219200-102234400	Weak transcription	Psoas Muscle	Psoas
2	chr11:102219200-102234600	Weak transcription	Ovary	ovary
3	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
6	chr11:102220800-102240000	Strong transcription	Liver	Liver
7	chr11:102221200-102239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:102222200-102234600	Weak transcription	K562	blood
9	chr11:102223800-102239800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
11	chr11:102227800-102239800	Strong transcription	Placenta	Placenta
12	chr11:102228200-102235200	Weak transcription	Fetal Brain Male	brain
13	chr11:102228800-102239800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:102228800-102239800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:102228800-102239800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:102228800-102240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:102229000-102239800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:102229400-102236400	Strong transcription	HMEC	breast
19	chr11:102229400-102239600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:102229400-102239800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:102229400-102239800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr11:102229400-102239800	Strong transcription	Osteobl	bone
23	chr11:102229600-102237800	Strong transcription	HUVEC	blood vessel
24	chr11:102229600-102239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:102229600-102239800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:102229800-102239800	Strong transcription	Adipose Nuclei	Adipose
27	chr11:102230200-102237200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:102230200-102239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:102230400-102236000	Weak transcription	Small Intestine	intestine
30	chr11:102230400-102236800	Strong transcription	Fetal Lung	lung
31	chr11:102230400-102237000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr11:102230600-102237800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:102230600-102240000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:102230800-102234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:102230800-102237000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:102230800-102240000	Strong transcription	Fetal Intestine Large	intestine
37	chr11:102230800-102245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:102231200-102239000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:102231200-102240000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:102231400-102233800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:102231400-102236600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:102231600-102234200	Strong transcription	NHLF	lung
43	chr11:102231600-102239400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:102232000-102234800	Weak transcription	Fetal Kidney	kidney
45	chr11:102232000-102239800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:102232000-102239800	Strong transcription	HepG2	liver
47	chr11:102232200-102235000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:102232400-102233800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:102232400-102234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:102232400-102234600	Weak transcription	Right Ventricle	heart

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