Variant report

Variant	rs11673599
Chromosome Location	chr19:42831376-42831377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42804664..42808164-chr19:42828676..42831528,3	MCF-7	breast:
2	chr19:42720188..42722079-chr19:42829743..42831592,2	K562	blood:
3	chr19:42758717..42760946-chr19:42831370..42833314,2	MCF-7	breast:
4	chr19:42589152..42591857-chr19:42830713..42833464,2	K562	blood:
5	chr19:42806642..42809220-chr19:42829976..42831705,2	K562	blood:
6	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:

Variant related genes	Relation type
ENSG00000160570	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000079462	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9677031	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42829400-42831400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:42830200-42831400	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr19:42830200-42831600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:42830200-42831600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr19:42830200-42831600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr19:42830200-42831800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:42830200-42832000	Flanking Active TSS	Dnd41	blood
8	chr19:42830400-42831400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:42830400-42831600	Flanking Active TSS	Fetal Brain Male	brain
10	chr19:42830400-42831600	Flanking Active TSS	Fetal Brain Female	brain
11	chr19:42830400-42831600	Flanking Active TSS	Fetal Stomach	stomach
12	chr19:42830600-42831600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:42830600-42831600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:42830600-42831600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr19:42830600-42831800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:42830600-42832000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:42830600-42840200	Weak transcription	Aorta	Aorta
18	chr19:42830800-42831400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:42830800-42831400	Enhancers	Fetal Heart	heart
20	chr19:42830800-42831400	Enhancers	Fetal Muscle Leg	muscle
21	chr19:42830800-42831400	Enhancers	Hela-S3	cervix
22	chr19:42830800-42831400	Enhancers	NHEK	skin
23	chr19:42830800-42831600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:42830800-42831600	Enhancers	Primary T cells from cord blood	blood
25	chr19:42830800-42831600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:42830800-42831600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:42830800-42831600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr19:42830800-42831600	Flanking Active TSS	GM12878-XiMat	blood
29	chr19:42830800-42831600	Enhancers	HMEC	breast
30	chr19:42830800-42831800	Enhancers	Primary B cells from peripheral blood	blood
31	chr19:42830800-42831800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:42830800-42831800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:42830800-42831800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:42830800-42831800	Enhancers	Liver	Liver
35	chr19:42830800-42832000	Enhancers	Brain Hippocampus Middle	brain
36	chr19:42830800-42832000	Enhancers	Brain Substantia Nigra	brain
37	chr19:42830800-42832000	Enhancers	Gastric	stomach
38	chr19:42830800-42832200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr19:42830800-42832400	Weak transcription	Placenta	Placenta
40	chr19:42830800-42832400	Enhancers	Spleen	Spleen
41	chr19:42830800-42832600	Enhancers	Adipose Nuclei	Adipose
42	chr19:42830800-42832600	Enhancers	Fetal Muscle Trunk	muscle
43	chr19:42830800-42832800	Enhancers	Lung	lung
44	chr19:42830800-42833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:42830800-42833400	Enhancers	Ovary	ovary
46	chr19:42830800-42833600	Enhancers	Pancreas	Pancrea
47	chr19:42830800-42840000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr19:42830800-42840200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:42830800-42840400	Weak transcription	Colonic Mucosa	Colon
50	chr19:42830800-42840400	Weak transcription	A549	lung

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