Variant report

Variant	rs1990597
Chromosome Location	chr14:81463132-81463133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81462345..81463310-chr14:81528942..81529784,4	MCF-7	breast:
2	chr14:81462289..81463361-chr14:81629649..81631060,10	MCF-7	breast:
3	chr14:81462591..81463541-chr14:81528802..81529444,3	MCF-7	breast:
4	chr14:81462542..81463148-chr14:81629279..81630008,2	K562	blood:
5	chr14:81461329..81464418-chr14:81684245..81687408,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11845052	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11850464	0.95[ASN][1000 genomes]
rs12050078	0.80[EUR][1000 genomes]
rs12050350	0.80[EUR][1000 genomes]
rs12437005	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896769	0.92[ASN][1000 genomes]
rs17544968	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17545038	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17545310	0.90[ASN][1000 genomes]
rs179243	0.80[ASN][1000 genomes]
rs179245	0.80[ASN][1000 genomes]
rs179249	0.92[ASN][1000 genomes]
rs179251	0.92[ASN][1000 genomes]
rs179254	0.86[ASN][1000 genomes]
rs179257	0.94[ASN][1000 genomes]
rs2024427	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2110696	0.91[ASN][1000 genomes]
rs2268457	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268458	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2268460	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284718	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284719	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284720	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284722	0.93[ASN][1000 genomes]
rs2284727	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2300521	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35472552	0.81[ASN][1000 genomes]
rs3783945	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783951	0.92[ASN][1000 genomes]
rs4903958	0.92[ASN][1000 genomes]
rs4903959	0.92[ASN][1000 genomes]
rs5002906	0.93[ASN][1000 genomes]
rs55945219	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59431750	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59711583	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724169	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72693057	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72693068	0.93[ASN][1000 genomes]
rs72693069	0.93[ASN][1000 genomes]
rs72693070	0.93[ASN][1000 genomes]
rs72693072	0.93[ASN][1000 genomes]
rs72693073	0.93[ASN][1000 genomes]
rs72693075	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72693078	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693080	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693090	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72693093	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693096	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72695026	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74064796	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917985	0.93[ASN][1000 genomes]
rs929630	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455400-81463800	Weak transcription	Thymus	Thymus
2	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
3	chr14:81459400-81465600	Strong transcription	Dnd41	blood
4	chr14:81462600-81463200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:81462600-81463200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:81462600-81463200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:81462600-81463200	Flanking Active TSS	Liver	Liver
8	chr14:81462600-81463200	Enhancers	Colon Smooth Muscle	Colon
9	chr14:81462600-81463200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr14:81462600-81463200	Enhancers	K562	blood
11	chr14:81462600-81463400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:81462800-81463200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:81462800-81463200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr14:81462800-81463200	Enhancers	Primary T cells from cord blood	blood
15	chr14:81462800-81463200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:81462800-81463200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:81462800-81463200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:81462800-81463200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr14:81462800-81463200	Active TSS	Brain Substantia Nigra	brain
20	chr14:81462800-81463200	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:81462800-81463200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:81462800-81463200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:81462800-81463200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr14:81463000-81463200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:81463000-81463200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:81463000-81463200	Active TSS	Adipose Nuclei	Adipose
27	chr14:81463000-81463200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr14:81463000-81463200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr14:81463000-81463200	Flanking Active TSS	Psoas Muscle	Psoas
30	chr14:81463000-81463200	Bivalent/Poised TSS	Osteobl	bone
31	chr14:81463000-81467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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