Variant report

Variant	rs12519797
Chromosome Location	chr5:98365881-98365882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98263162..98264704-chr5:98365544..98368385,2	K562	blood:
2	chr5:98263067..98265701-chr5:98365532..98368540,4	MCF-7	breast:
3	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
4	chr5:98261108..98266251-chr5:98365242..98369850,9	K562	blood:

Variant related genes	Relation type
ENSG00000153922	Chromatin interaction
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11739912	0.81[ASN][1000 genomes]
rs57195934	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61471055	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72775661	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][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	nsv1024391	chr5:98355665-98653657	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv599118	chr5:98358191-99029453	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv599119	chr5:98358191-99315677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98357400-98368400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:98358200-98366800	Weak transcription	K562	blood
3	chr5:98360200-98369000	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:98361200-98368000	Weak transcription	Osteobl	bone
5	chr5:98361600-98366000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:98361800-98366400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:98362000-98366400	Weak transcription	Colonic Mucosa	Colon
8	chr5:98362000-98367800	Weak transcription	Placenta	Placenta
9	chr5:98362200-98368400	Weak transcription	Small Intestine	intestine
10	chr5:98362400-98368400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:98362800-98366400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:98362800-98368400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:98363200-98366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:98363200-98368400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:98363400-98366200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:98363400-98366400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:98363400-98367800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:98363400-98368000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:98363400-98368000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:98363400-98368000	Weak transcription	Fetal Kidney	kidney
21	chr5:98363400-98368000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:98363400-98368200	Weak transcription	Fetal Intestine Small	intestine
23	chr5:98363400-98368200	Weak transcription	Stomach Mucosa	stomach
24	chr5:98363400-98368400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:98363400-98368400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:98363600-98367800	Weak transcription	Liver	Liver
27	chr5:98363600-98368000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:98363600-98368000	Weak transcription	A549	lung
29	chr5:98363600-98368400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:98363600-98368400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:98363600-98368600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:98364000-98367800	Weak transcription	Dnd41	blood
33	chr5:98364200-98366200	Weak transcription	Thymus	Thymus
34	chr5:98364200-98366400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:98364200-98366600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:98364200-98368000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:98364200-98368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:98364200-98368200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:98364400-98366200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:98364400-98366200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:98364400-98366200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:98364400-98366400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:98364400-98366400	Weak transcription	Fetal Thymus	thymus
44	chr5:98364400-98368200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:98364400-98368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:98364400-98368600	Enhancers	Primary B cells from cord blood	blood
47	chr5:98364600-98366000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:98364600-98366000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:98364600-98366400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:98364600-98368200	Weak transcription	Primary T cells from cord blood	blood

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