Variant report

Variant	rs793274
Chromosome Location	chr11:19247285-19247286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1698885	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1698891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs793251	1.00[AMR][1000 genomes]
rs796969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924692	1.00[AFR][1000 genomes];1.00[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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1041249	chr11:19229878-19248268	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19239000-19261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:19239600-19259000	Weak transcription	Brain Germinal Matrix	brain
3	chr11:19240000-19249800	Weak transcription	HMEC	breast
4	chr11:19240800-19253400	Weak transcription	Small Intestine	intestine
5	chr11:19240800-19261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:19241000-19251000	Weak transcription	Gastric	stomach
7	chr11:19241000-19254200	Weak transcription	Hela-S3	cervix
8	chr11:19241000-19254400	Weak transcription	HSMM	muscle
9	chr11:19241000-19256000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:19241000-19261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:19241800-19261200	Weak transcription	Primary B cells from cord blood	blood
12	chr11:19243000-19254400	Weak transcription	NHDF-Ad	bronchial
13	chr11:19243200-19254200	Weak transcription	Osteobl	bone
14	chr11:19243200-19261600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:19243400-19250000	Weak transcription	Placenta	Placenta
16	chr11:19243400-19255800	Weak transcription	Fetal Lung	lung
17	chr11:19243800-19259600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:19243800-19261800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:19243800-19261800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:19244000-19248000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:19244000-19260000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:19244200-19250600	Weak transcription	HSMMtube	muscle
23	chr11:19244200-19250600	Weak transcription	NHEK	skin
24	chr11:19244200-19251000	Weak transcription	Right Ventricle	heart
25	chr11:19244200-19254600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:19244200-19254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:19244200-19259400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:19244200-19261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:19244400-19248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:19244400-19261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:19244600-19247800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:19244600-19253400	Strong transcription	HUVEC	blood vessel
33	chr11:19244600-19256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:19244600-19260600	Strong transcription	Fetal Thymus	thymus
35	chr11:19244800-19247600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:19244800-19247800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:19244800-19247800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:19244800-19251600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:19244800-19253400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:19244800-19253600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:19244800-19255000	Strong transcription	GM12878-XiMat	blood
42	chr11:19244800-19259200	Strong transcription	Dnd41	blood
43	chr11:19244800-19259400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:19245000-19247800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:19245000-19248200	Strong transcription	K562	blood
46	chr11:19245000-19252600	Weak transcription	Fetal Kidney	kidney
47	chr11:19245000-19254000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:19245000-19260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:19245200-19248000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:19245400-19254800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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