Variant report

Variant	rs593684
Chromosome Location	chr11:121334610-121334611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1784926	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512892	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs539842	1.00[AMR][1000 genomes]
rs599920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610188	1.00[AMR][1000 genomes]
rs610258	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	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121323800-121335000	Weak transcription	Left Ventricle	heart
2	chr11:121323800-121336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:121323800-121336800	Weak transcription	Gastric	stomach
4	chr11:121324200-121335200	Weak transcription	Right Atrium	heart
5	chr11:121325000-121335200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:121325000-121336800	Weak transcription	Colonic Mucosa	Colon
7	chr11:121325400-121338000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:121325600-121335000	Weak transcription	Esophagus	oesophagus
9	chr11:121326200-121335200	Weak transcription	Fetal Brain Male	brain
10	chr11:121328000-121335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:121328600-121334800	Weak transcription	Fetal Brain Female	brain
12	chr11:121328600-121335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:121328800-121335000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:121330000-121336800	Enhancers	Brain Hippocampus Middle	brain
15	chr11:121330400-121334800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:121330400-121335400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:121330600-121335400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:121330600-121336600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:121330800-121334800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:121330800-121335200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:121330800-121335200	Weak transcription	Thymus	Thymus
22	chr11:121330800-121335400	Weak transcription	Fetal Stomach	stomach
23	chr11:121330800-121335600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:121330800-121337000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:121330800-121337000	Weak transcription	Fetal Lung	lung
26	chr11:121331000-121334800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:121331600-121335000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:121331600-121336000	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:121331600-121336200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:121331600-121336600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:121331600-121341200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:121331800-121339000	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:121332000-121338800	Enhancers	Brain Angular Gyrus	brain
34	chr11:121332000-121339800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:121332200-121335000	Weak transcription	Lung	lung
36	chr11:121332200-121335600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:121332400-121335000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:121332600-121334800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr11:121332800-121337000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:121332800-121339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:121333000-121337000	Enhancers	Primary T cells from cord blood	blood
42	chr11:121333000-121340600	Enhancers	Fetal Thymus	thymus
43	chr11:121333200-121337200	Weak transcription	Fetal Kidney	kidney
44	chr11:121333200-121343400	Enhancers	Liver	Liver
45	chr11:121333400-121340800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:121333600-121335000	Enhancers	NHEK	skin
47	chr11:121333600-121335200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:121333600-121337200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:121333600-121338200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:121333600-121339000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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