Variant report

Variant	rs9287723
Chromosome Location	chr2:10941677-10941678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
2	chr2:10935699..10938773-chr2:10938935..10941825,3	K562	blood:
3	chr2:10940410..10942215-chr2:10947909..10950138,3	K562	blood:
4	chr2:10939578..10942243-chr2:10950917..10952811,2	MCF-7	breast:
5	chr2:10931309..10945449-chr2:10946731..10956927,22	K562	blood:
6	chr2:10933426..10935588-chr2:10941272..10943187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143870	Chromatin interaction
ENSG00000238962	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10185558	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197695	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198312	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13382264	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856645	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4668698	1.00[MEX][hapmap]
rs60116713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6432144	1.00[MEX][hapmap]
rs6432146	0.88[YRI][hapmap];0.87[AMR][1000 genomes]
rs6736555	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748808	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73170277	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73170293	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568342	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574339	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7574716	0.83[ASW][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7583019	1.00[MEX][hapmap]
rs7595917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
2	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
7	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:10918000-10942400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:10918000-10942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10918200-10942200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:10918200-10942600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:10918200-10943200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:10918400-10943200	Strong transcription	HSMM	muscle
22	chr2:10918600-10942400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:10919600-10943800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:10919800-10942400	Strong transcription	Osteobl	bone
25	chr2:10920200-10942200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:10920200-10943000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:10924600-10944400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:10925400-10943200	Strong transcription	HepG2	liver
29	chr2:10929400-10942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:10929400-10951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:10931200-10943400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:10931400-10943200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:10931600-10942800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:10931600-10943200	Strong transcription	NHEK	skin
35	chr2:10932600-10942600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:10933200-10943200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:10933400-10948600	Weak transcription	Pancreas	Pancrea
38	chr2:10933600-10942000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:10934400-10942600	Strong transcription	GM12878-XiMat	blood
40	chr2:10934800-10942200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:10935000-10942200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:10935000-10942800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:10935000-10943000	Strong transcription	Primary T cells from cord blood	blood
44	chr2:10935000-10943200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10935000-10943400	Strong transcription	A549	lung
46	chr2:10935000-10943400	Strong transcription	Dnd41	blood
47	chr2:10935200-10942000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr2:10935200-10942200	Strong transcription	Brain Anterior Caudate	brain
49	chr2:10935200-10942800	Strong transcription	Placenta	Placenta
50	chr2:10935400-10942600	Strong transcription	Hela-S3	cervix

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