Variant report

Variant	rs7733544
Chromosome Location	chr5:126860145-126860146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126851024..126854935-chr5:126857550..126860318,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction

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

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

rs_ID	r²[population]
rs10044579	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]
rs10055438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126854200-126860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:126854200-126860200	Weak transcription	Spleen	Spleen
3	chr5:126854400-126860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:126854400-126860200	Weak transcription	Esophagus	oesophagus
5	chr5:126854400-126861000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:126854400-126864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:126855200-126860400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
9	chr5:126855600-126860200	Weak transcription	Aorta	Aorta
10	chr5:126855600-126860200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:126855600-126860800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:126855600-126872200	Strong transcription	Fetal Intestine Large	intestine
13	chr5:126855800-126869400	Weak transcription	Psoas Muscle	Psoas
14	chr5:126856000-126860200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:126856000-126863800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:126856000-126876400	Strong transcription	NH-A	brain
17	chr5:126856200-126876200	Strong transcription	NHDF-Ad	bronchial
18	chr5:126856200-126877000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:126856400-126860200	Weak transcription	Ovary	ovary
20	chr5:126856600-126863600	Strong transcription	Primary B cells from cord blood	blood
21	chr5:126856600-126865400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:126857000-126860200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:126857200-126867400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:126857200-126875800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:126857200-126876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:126857400-126867400	Strong transcription	Dnd41	blood
27	chr5:126857600-126860200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:126857600-126876400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:126857600-126876800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:126857600-126877000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr5:126857800-126860200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:126857800-126860200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:126857800-126860200	Weak transcription	A549	lung
34	chr5:126857800-126860800	Weak transcription	Fetal Heart	heart
35	chr5:126857800-126862000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:126857800-126863800	Strong transcription	NHEK	skin
37	chr5:126857800-126864000	Weak transcription	K562	blood
38	chr5:126857800-126866800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:126857800-126872600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:126857800-126875400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:126857800-126875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:126857800-126876400	Strong transcription	HSMM	muscle
43	chr5:126857800-126876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:126857800-126877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:126857800-126877000	Strong transcription	Liver	Liver
46	chr5:126858000-126860200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:126858000-126860200	Strong transcription	Brain Germinal Matrix	brain
48	chr5:126858000-126861000	Strong transcription	Fetal Stomach	stomach
49	chr5:126858000-126862600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:126858200-126860200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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