Variant report

Variant	rs9327443
Chromosome Location	chr5:126862702-126862703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126853384..126855292-chr5:126860584..126863005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10043977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10055438	1.00[MEX][hapmap]
rs10063277	1.00[AMR][1000 genomes]
rs10063666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155578	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452551	1.00[AMR][1000 genomes]
rs10478768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361500	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436211	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13436719	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439085	1.00[AMR][1000 genomes]
rs28514390	1.00[AMR][1000 genomes]
rs28535011	1.00[AMR][1000 genomes]
rs57261222	1.00[AMR][1000 genomes]
rs58086571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61631930	1.00[AMR][1000 genomes]
rs73331301	1.00[AMR][1000 genomes]
rs73333106	1.00[AMR][1000 genomes]
rs73333162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335031	1.00[AMR][1000 genomes]
rs73335039	1.00[AMR][1000 genomes]
rs73335045	1.00[AMR][1000 genomes]
rs73783903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73785582	1.00[AMR][1000 genomes]
rs73785583	1.00[AMR][1000 genomes]
rs73786118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327445	1.00[AMR][1000 genomes]
rs9327446	1.00[AMR][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	chr5:126854400-126864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
3	chr5:126855600-126872200	Strong transcription	Fetal Intestine Large	intestine
4	chr5:126855800-126869400	Weak transcription	Psoas Muscle	Psoas
5	chr5:126856000-126863800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:126856000-126876400	Strong transcription	NH-A	brain
7	chr5:126856200-126876200	Strong transcription	NHDF-Ad	bronchial
8	chr5:126856200-126877000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:126856600-126863600	Strong transcription	Primary B cells from cord blood	blood
10	chr5:126856600-126865400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:126857200-126867400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:126857200-126875800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:126857200-126876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:126857400-126867400	Strong transcription	Dnd41	blood
15	chr5:126857600-126876400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:126857600-126876800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:126857600-126877000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr5:126857800-126863800	Strong transcription	NHEK	skin
19	chr5:126857800-126864000	Weak transcription	K562	blood
20	chr5:126857800-126866800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:126857800-126872600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:126857800-126875400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126857800-126875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:126857800-126876400	Strong transcription	HSMM	muscle
25	chr5:126857800-126876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:126857800-126877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:126857800-126877000	Strong transcription	Liver	Liver
28	chr5:126858200-126873600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:126858200-126874600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:126858200-126874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:126858200-126876600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:126858400-126863400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:126858400-126863400	Strong transcription	Fetal Muscle Leg	muscle
34	chr5:126858400-126876400	Strong transcription	Fetal Thymus	thymus
35	chr5:126858600-126864000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:126858600-126875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:126858600-126876400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:126858600-126876600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:126858600-126877000	Strong transcription	Placenta	Placenta
40	chr5:126858800-126865200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:126858800-126876400	Strong transcription	Osteobl	bone
42	chr5:126859000-126863600	Strong transcription	HUVEC	blood vessel
43	chr5:126859000-126874800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr5:126859000-126875200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:126859000-126876000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:126859000-126876400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:126859000-126876600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:126859000-126876800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:126859000-126877000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:126859200-126862800	Strong transcription	HSMMtube	muscle

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