Variant report

Variant	rs2509683
Chromosome Location	chr11:102298002-102298003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102296686..102299425-chr11:102321906..102324629,2	MCF-7	breast:
2	chr11:102284688..102287273-chr11:102297070..102298634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction

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

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

rs_ID	r²[population]
rs1275852	1.00[CEU][hapmap]
rs4754845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523356	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs531350	1.00[MEX][hapmap]
rs546361	0.89[AMR][1000 genomes]
rs618571	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs655139	0.85[YRI][hapmap]
rs667755	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap]
rs670314	1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes]
rs670334	1.00[MEX][hapmap]
rs672503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	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
2	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
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:102273200-102300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:102278600-102300600	Weak transcription	Esophagus	oesophagus
4	chr11:102281600-102300000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:102282200-102303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:102283000-102300600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:102283200-102300400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:102284400-102299600	Weak transcription	Right Atrium	heart
9	chr11:102284400-102302200	Weak transcription	Aorta	Aorta
10	chr11:102284600-102308600	Weak transcription	Lung	lung
11	chr11:102288200-102299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:102288600-102300600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:102288800-102300400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:102290600-102298200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:102290600-102301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:102291000-102298200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:102291000-102299600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:102291000-102301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:102291000-102303200	Weak transcription	HMEC	breast
20	chr11:102291200-102299000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:102291200-102302400	Weak transcription	NHEK	skin
22	chr11:102291600-102299600	Weak transcription	Small Intestine	intestine
23	chr11:102291600-102301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:102291600-102302600	Weak transcription	A549	lung
25	chr11:102291600-102307800	Weak transcription	K562	blood
26	chr11:102291800-102300600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:102292200-102299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:102292600-102299600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:102292600-102299600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:102292800-102300400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:102293000-102299600	Weak transcription	HSMMtube	muscle
32	chr11:102293000-102316000	Weak transcription	HUVEC	blood vessel
33	chr11:102293200-102302200	Weak transcription	Fetal Intestine Large	intestine
34	chr11:102293200-102303200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:102294000-102299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:102294200-102299600	Weak transcription	Placenta	Placenta
37	chr11:102294200-102303400	Weak transcription	Fetal Stomach	stomach
38	chr11:102294400-102299600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:102294400-102299600	Weak transcription	Left Ventricle	heart
40	chr11:102294400-102299600	Weak transcription	Psoas Muscle	Psoas
41	chr11:102294400-102300600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:102294400-102300600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:102294400-102303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:102295000-102299800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:102295000-102300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:102295200-102298600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr11:102295400-102301000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:102295400-102307600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:102295600-102298200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:102295600-102300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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