Variant report

Variant	rs11695081
Chromosome Location	chr2:11925782-11925783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10520097	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11679358	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11690125	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11694797	0.93[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11695610	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17603197	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17603755	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2289193	0.85[CEU][hapmap]
rs2358125	0.87[AMR][1000 genomes]
rs3762583	0.87[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4129758	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62113359	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62114960	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7587836	0.81[CEU][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11927000	Weak transcription	Fetal Heart	heart
3	chr2:11919400-11940400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:11919400-11943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:11919600-11930400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11919600-11940800	Strong transcription	Left Ventricle	heart
8	chr2:11919600-11940800	Strong transcription	NHEK	skin
9	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:11919800-11930000	Strong transcription	Thymus	Thymus
11	chr2:11919800-11933600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:11919800-11934400	Strong transcription	K562	blood
13	chr2:11919800-11937600	Strong transcription	HepG2	liver
14	chr2:11919800-11939600	Strong transcription	Fetal Thymus	thymus
15	chr2:11919800-11940000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:11919800-11940000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:11919800-11940400	Strong transcription	Dnd41	blood
18	chr2:11919800-11940600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:11919800-11940600	Strong transcription	Placenta	Placenta
20	chr2:11919800-11948400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:11919800-11949000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:11919800-11959200	Strong transcription	Liver	Liver
25	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
26	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:11920000-11936800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:11920000-11940400	Strong transcription	HMEC	breast
32	chr2:11920000-11941000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:11920200-11929400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:11920200-11931000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:11920200-11934000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:11920200-11937200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:11920200-11939600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:11920200-11940800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:11920400-11926000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:11920400-11939800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:11920400-11940400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:11920400-11940400	Strong transcription	Gastric	stomach
43	chr2:11920600-11927600	Strong transcription	A549	lung
44	chr2:11920600-11931000	Strong transcription	Spleen	Spleen
45	chr2:11921400-11928600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:11922600-11926600	Weak transcription	Small Intestine	intestine
47	chr2:11922600-11929200	Strong transcription	GM12878-XiMat	blood
48	chr2:11923200-11930800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr2:11923400-11927000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:11923600-11928800	Strong transcription	Colon Smooth Muscle	Colon

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