Variant report

Variant	rs1854099
Chromosome Location	chr19:40561689-40561690
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	chr19:40475179..40477026-chr19:40560831..40562342,2	K562	blood:

Variant related genes	Relation type
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1327185	0.84[YRI][hapmap]
rs1327193	0.85[YRI][hapmap]
rs17797100	0.85[YRI][hapmap]
rs2569640	0.85[YRI][hapmap]
rs2569641	0.85[YRI][hapmap]
rs2767607	0.84[YRI][hapmap]
rs337793	0.85[YRI][hapmap]
rs60365201	0.84[AFR][1000 genomes]
rs61347180	0.84[AFR][1000 genomes]
rs73545960	0.84[AFR][1000 genomes]
rs73545976	0.84[AFR][1000 genomes]
rs73547687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40560400-40561800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:40560400-40562600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:40560400-40562600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:40560400-40563000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:40560400-40563000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:40560400-40563000	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:40560400-40563200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:40560600-40561800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:40560600-40561800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:40560600-40562000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:40560600-40562600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40560600-40562600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:40560600-40562800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:40560600-40563000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:40560600-40563000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:40560600-40563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:40560600-40563000	Active TSS	Rectal Smooth Muscle	rectum
18	chr19:40560600-40563000	Active TSS	NHLF	lung
19	chr19:40560600-40563600	Active TSS	Right Atrium	heart
20	chr19:40560800-40561800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:40560800-40561800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:40560800-40562600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr19:40560800-40562600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:40560800-40562600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:40560800-40562800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:40560800-40562800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:40560800-40562800	Active TSS	Fetal Kidney	kidney
28	chr19:40560800-40563000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:40561000-40561800	Flanking Active TSS	Hela-S3	cervix
30	chr19:40561000-40562600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:40561000-40562600	Active TSS	Brain Cingulate Gyrus	brain
32	chr19:40561000-40562600	Active TSS	Left Ventricle	heart
33	chr19:40561000-40562800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr19:40561000-40562800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:40561000-40562800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:40561000-40562800	Active TSS	Fetal Intestine Small	intestine
37	chr19:40561000-40562800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:40561000-40562800	Active TSS	Right Ventricle	heart
39	chr19:40561000-40562800	Active TSS	A549	lung
40	chr19:40561000-40562800	Active TSS	GM12878-XiMat	blood
41	chr19:40561000-40562800	Active TSS	HSMMtube	muscle
42	chr19:40561000-40562800	Active TSS	K562	blood
43	chr19:40561000-40562800	Active TSS	NHDF-Ad	bronchial
44	chr19:40561000-40563000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:40561000-40563200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:40561200-40561800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr19:40561200-40561800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr19:40561200-40561800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr19:40561200-40561800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr19:40561200-40561800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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