Variant report

Variant	rs12508023
Chromosome Location	chr4:143641235-143641236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143637297..143639595-chr4:143640905..143643324,3	MCF-7	breast:
2	chr4:143393131..143399799-chr4:143636317..143645681,15	MCF-7	breast:
3	chr4:143392644..143398601-chr4:143638137..143645320,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11100757	1.00[EUR][1000 genomes]
rs11100758	1.00[EUR][1000 genomes]
rs11100759	1.00[EUR][1000 genomes]
rs12500163	1.00[EUR][1000 genomes]
rs12502865	1.00[EUR][1000 genomes]
rs12502867	1.00[EUR][1000 genomes]
rs12504681	1.00[EUR][1000 genomes]
rs12507570	1.00[EUR][1000 genomes]
rs12507620	1.00[EUR][1000 genomes]
rs17016749	1.00[EUR][1000 genomes]
rs17016755	1.00[EUR][1000 genomes]
rs17016776	1.00[EUR][1000 genomes]
rs2053574	1.00[ASN][1000 genomes]
rs28633136	1.00[EUR][1000 genomes]
rs55657725	1.00[EUR][1000 genomes]
rs55862660	1.00[EUR][1000 genomes]
rs55942956	1.00[EUR][1000 genomes]
rs56207111	1.00[EUR][1000 genomes]
rs56377132	0.93[AFR][1000 genomes]
rs57356511	1.00[EUR][1000 genomes]
rs57908294	1.00[EUR][1000 genomes]
rs6831728	1.00[EUR][1000 genomes]
rs7689139	1.00[EUR][1000 genomes]
rs7697637	1.00[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	nsv830101	chr4:143518810-143684392	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv595606	chr4:143631691-143729595	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143620800-143642000	Weak transcription	Fetal Heart	heart
2	chr4:143625200-143641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143630800-143650200	Weak transcription	Aorta	Aorta
4	chr4:143635000-143648200	Weak transcription	Thymus	Thymus
5	chr4:143637200-143653000	Weak transcription	Left Ventricle	heart
6	chr4:143639200-143641800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:143639600-143641400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:143639600-143641600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:143639600-143647000	Enhancers	Dnd41	blood
10	chr4:143640000-143641400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr4:143640200-143641400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:143640200-143641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:143640200-143642200	Enhancers	NHEK	skin
14	chr4:143640200-143642800	Enhancers	HMEC	breast
15	chr4:143640600-143641600	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:143640800-143641400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:143641000-143641400	Enhancers	Primary T cells from cord blood	blood
18	chr4:143641000-143641400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:143641000-143641400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:143641000-143641400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:143641000-143641400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:143641000-143641400	Enhancers	NHDF-Ad	bronchial
23	chr4:143641000-143641400	Enhancers	Osteobl	bone
24	chr4:143641000-143641800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:143641000-143641800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:143641000-143642600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:143641000-143642600	Enhancers	NH-A	brain
28	chr4:143641200-143641400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:143641200-143641600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:143641200-143642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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