Variant report

Variant	rs1968241
Chromosome Location	chr19:51866955-51866956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
2	chr19:51841052..51843935-chr19:51865412..51867755,3	MCF-7	breast:
3	chr19:51848237..51856350-chr19:51866106..51872931,10	MCF-7	breast:
4	chr19:51843078..51845843-chr19:51865924..51867559,2	MCF-7	breast:
5	chr19:51841630..51844742-chr19:51864633..51867796,3	K562	blood:

Variant related genes	Relation type
ENSG00000267905	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000267984	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000105379	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11880489	0.82[EUR][1000 genomes]
rs7257274	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 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	chr19:51847200-51868600	Weak transcription	Fetal Lung	lung
2	chr19:51853600-51868600	Weak transcription	Aorta	Aorta
3	chr19:51853800-51868600	Weak transcription	HSMM	muscle
4	chr19:51854600-51867800	Weak transcription	Psoas Muscle	Psoas
5	chr19:51855400-51867600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:51856600-51867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:51856600-51868600	Weak transcription	Ovary	ovary
8	chr19:51857800-51867600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr19:51857800-51868400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:51858200-51867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:51858200-51867200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:51858200-51867800	Weak transcription	Fetal Muscle Leg	muscle
13	chr19:51858200-51869000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:51858400-51867000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:51858400-51867000	Weak transcription	Brain Angular Gyrus	brain
16	chr19:51858400-51867000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:51858400-51867000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:51858400-51867200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:51858400-51867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:51858400-51868600	Weak transcription	HSMMtube	muscle
21	chr19:51860000-51868400	Weak transcription	Fetal Stomach	stomach
22	chr19:51862600-51867200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:51863200-51867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:51863400-51867000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:51863400-51868400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:51864400-51868400	Enhancers	Fetal Intestine Large	intestine
27	chr19:51864600-51868600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:51865200-51867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:51865200-51868400	Enhancers	Osteobl	bone
30	chr19:51865200-51868600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:51865200-51868600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:51865200-51868600	Enhancers	Fetal Heart	heart
33	chr19:51865200-51868800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr19:51865400-51868400	Enhancers	Primary T cells from cord blood	blood
35	chr19:51865400-51868600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:51865400-51868600	Enhancers	Fetal Thymus	thymus
37	chr19:51865400-51868600	Enhancers	Stomach Mucosa	stomach
38	chr19:51865600-51867000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:51865600-51868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:51865600-51868400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr19:51865600-51868600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr19:51865600-51868600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:51865600-51868600	Enhancers	Pancreas	Pancrea
44	chr19:51865600-51868800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr19:51865800-51867000	Enhancers	Small Intestine	intestine
46	chr19:51865800-51867200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:51865800-51867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:51865800-51867800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:51865800-51868600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:51865800-51868600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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