Variant report

Variant	rs58610082
Chromosome Location	chr5:14681555-14681556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14681339-14681884	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14681508-14681645	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:14681332-14681733	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:14681543-14681672	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14663911..14666053-chr5:14679468..14682192,2	MCF-7	breast:

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10057226	0.83[AMR][1000 genomes]
rs10077606	0.83[AMR][1000 genomes]
rs10214122	0.83[AMR][1000 genomes]
rs10214386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10475018	0.83[AMR][1000 genomes]
rs10475019	0.83[AMR][1000 genomes]
rs10475021	0.83[AMR][1000 genomes]
rs13355536	0.83[AMR][1000 genomes]
rs13358074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61502042	0.83[AMR][1000 genomes]
rs73048824	0.83[AMR][1000 genomes]
rs73048838	0.82[AFR][1000 genomes]
rs7712783	0.83[AMR][1000 genomes]
rs9312870	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:14666400-14688200	Weak transcription	Ovary	ovary
3	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
5	chr5:14672000-14684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
7	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
9	chr5:14674600-14687200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:14674600-14688400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:14675600-14682200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:14675800-14685400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:14676000-14682000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14676200-14681600	Weak transcription	Brain Substantia Nigra	brain
17	chr5:14676800-14683600	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:14676800-14687800	Weak transcription	Fetal Kidney	kidney
19	chr5:14676800-14690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:14677000-14681600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:14677000-14682200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:14677000-14685800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:14677000-14688400	Weak transcription	Stomach Mucosa	stomach
25	chr5:14677000-14695200	Strong transcription	K562	blood
26	chr5:14677600-14689800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:14677600-14705600	Strong transcription	Dnd41	blood
28	chr5:14677800-14685600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:14677800-14685800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:14677800-14704000	Strong transcription	HepG2	liver
31	chr5:14678000-14683200	Strong transcription	Liver	Liver
32	chr5:14678000-14685200	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:14678000-14686000	Strong transcription	Primary T cells from cord blood	blood
34	chr5:14678000-14689800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:14678000-14690200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:14678000-14690200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:14678200-14681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:14678200-14681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:14678200-14683400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:14678200-14683400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:14678200-14685000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:14678200-14685200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr5:14678200-14685200	Strong transcription	Osteobl	bone
44	chr5:14678200-14685800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:14678200-14685800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:14678200-14689200	Strong transcription	Fetal Intestine Small	intestine
47	chr5:14678200-14690400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:14678200-14690400	Strong transcription	Fetal Stomach	stomach
49	chr5:14678400-14683400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:14678400-14684000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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