Variant report

Variant	rs10044579
Chromosome Location	chr5:126854127-126854128
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126853642..126856280-chr5:128795385..128797778,2	MCF-7	breast:
2	chr5:126854104..126857054-chr5:126869827..126872747,2	K562	blood:

Variant related genes	Relation type
ENSG00000145808	Chromatin interaction
ENSG00000249421	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10055438	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063245	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60312557	0.82[ASN][1000 genomes]
rs6892265	0.91[ASN][1000 genomes]
rs7731486	0.91[ASN][1000 genomes]
rs7732306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733544	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784651	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126852600-126854400	Active TSS	A549	lung
2	chr5:126852600-126854600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:126852800-126854200	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:126852800-126854200	Active TSS	Brain Substantia Nigra	brain
5	chr5:126852800-126854200	Active TSS	Fetal Lung	lung
6	chr5:126852800-126854200	Active TSS	Lung	lung
7	chr5:126852800-126854400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:126852800-126854400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:126852800-126854400	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr5:126852800-126854400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:126852800-126854400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:126852800-126854400	Active TSS	Brain Angular Gyrus	brain
13	chr5:126852800-126854400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:126852800-126854400	Active TSS	Colonic Mucosa	Colon
15	chr5:126852800-126854400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:126852800-126854400	Active TSS	Fetal Heart	heart
17	chr5:126852800-126854400	Active TSS	Fetal Kidney	kidney
18	chr5:126852800-126854400	Active TSS	Right Ventricle	heart
19	chr5:126852800-126854400	Active TSS	Stomach Mucosa	stomach
20	chr5:126852800-126854600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:126852800-126854600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:126852800-126854600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:126852800-126854600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:126852800-126854600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:126852800-126854600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:126852800-126854600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:126852800-126854600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:126852800-126854600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:126852800-126854600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:126852800-126854600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:126852800-126854600	Active TSS	Fetal Brain Male	brain
32	chr5:126852800-126854600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:126852800-126854600	Active TSS	Placenta	Placenta
34	chr5:126852800-126854600	Active TSS	Ovary	ovary
35	chr5:126852800-126854600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr5:126852800-126854600	Active TSS	Right Atrium	heart
37	chr5:126852800-126854600	Active TSS	HSMM	muscle
38	chr5:126852800-126854800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:126852800-126854800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:126852800-126855000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:126852800-126855000	Active TSS	Fetal Intestine Large	intestine
42	chr5:126852800-126855000	Active TSS	Psoas Muscle	Psoas
43	chr5:126852800-126855600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:126853000-126854200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:126853000-126854200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:126853000-126854200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:126853000-126854200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr5:126853000-126854200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:126853000-126854200	Active TSS	Rectal Smooth Muscle	rectum
50	chr5:126853000-126854200	Active TSS	Sigmoid Colon	Sigmoid Colon

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