Variant report

Variant	rs10055519
Chromosome Location	chr5:127395854-127395855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127395043..127397660-chr5:127418836..127421107,2	MCF-7	breast:
2	chr5:127394903..127397902-chr5:127411158..127414826,3	K562	blood:
3	chr5:127395089..127397182-chr5:127418719..127420552,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A2-3	chr5:127395509-127396068	NONHSAT103639

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10036170	1.00[AMR][1000 genomes]
rs10064377	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065431	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10478795	0.87[AFR][1000 genomes]
rs10519975	0.86[ASW][hapmap];1.00[AMR][1000 genomes]
rs13358466	0.96[AFR][1000 genomes]
rs17164277	1.00[AMR][1000 genomes]
rs17164360	1.00[ASW][hapmap];0.86[LWK][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes]
rs17164412	0.87[AFR][1000 genomes]
rs6860829	1.00[AMR][1000 genomes]
rs6868281	1.00[AMR][1000 genomes]
rs6870817	0.87[AFR][1000 genomes]
rs6882728	1.00[AMR][1000 genomes]
rs6888776	0.96[AFR][1000 genomes]
rs73784511	1.00[AMR][1000 genomes]
rs73784516	1.00[AMR][1000 genomes]
rs9327467	0.94[AFR][1000 genomes]
rs9327470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv508378	chr5:127374904-127405030	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1804376	chr5:127395854-127410583	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1806383	chr5:127395854-127410583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1807831	chr5:127395854-127410583	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
3	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
7	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:127371600-127398000	Weak transcription	Small Intestine	intestine
11	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:127376000-127397000	Weak transcription	NHEK	skin
14	chr5:127376400-127397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:127376400-127414400	Weak transcription	Dnd41	blood
16	chr5:127377200-127414200	Weak transcription	K562	blood
17	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
18	chr5:127378400-127401600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:127380200-127398000	Weak transcription	Esophagus	oesophagus
23	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:127380400-127402800	Weak transcription	Gastric	stomach
26	chr5:127384600-127397600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:127384800-127397800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:127385400-127398000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:127385600-127398000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:127385600-127400000	Weak transcription	Fetal Lung	lung
31	chr5:127386400-127414400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
33	chr5:127387600-127400600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:127389000-127409000	Weak transcription	Fetal Intestine Small	intestine
35	chr5:127389200-127397400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:127389200-127402000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:127389200-127409000	Weak transcription	Aorta	Aorta
38	chr5:127389200-127414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:127389400-127396000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:127389400-127397600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:127389400-127398000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127389400-127398000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:127389400-127398000	Weak transcription	Brain Angular Gyrus	brain
44	chr5:127389400-127414600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:127389600-127397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:127389600-127397600	Weak transcription	Osteobl	bone
47	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
48	chr5:127389800-127416200	Weak transcription	Thymus	Thymus
49	chr5:127390200-127398000	Weak transcription	HSMMtube	muscle
50	chr5:127390200-127415400	Weak transcription	Primary T cells fromperipheralblood	blood

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