Variant report

Variant	rs11954181
Chromosome Location	chr5:179464076-179464077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179463832..179465886-chr5:179496517..179500422,3	MCF-7	breast:
2	chr5:179451853..179453889-chr5:179463627..179465589,2	MCF-7	breast:
3	chr5:179462999..179464802-chr5:179497559..179499062,2	K562	blood:

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10045947	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10054764	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10058085	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10073876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075627	0.94[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11948891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348523	0.94[CEU][hapmap]
rs1867447	0.81[CEU][hapmap]
rs2115042	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28754309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62404973	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62405022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348273	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7448914	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7706876	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs9329092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:179438000-179466400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:179447800-179466800	Weak transcription	Hela-S3	cervix
4	chr5:179450600-179466000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:179451200-179477200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:179454800-179464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:179455800-179467600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:179458800-179467000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:179458800-179467200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179458800-179468200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:179459000-179464600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:179459400-179464400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:179459400-179467600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179459600-179467400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:179460400-179464400	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr5:179460400-179465200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:179460400-179467400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr5:179461400-179464400	ZNF genes & repeats	Fetal Lung	lung
19	chr5:179461600-179464600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:179461600-179464600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:179461600-179464600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr5:179461600-179464600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr5:179461600-179464800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr5:179461600-179465400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr5:179461800-179483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:179462000-179467200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:179462200-179464600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr5:179462200-179465200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:179462400-179464200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:179462400-179464200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr5:179462400-179464400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:179462400-179464600	ZNF genes & repeats	K562	blood
33	chr5:179462400-179464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:179462400-179465400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:179462400-179465400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:179462400-179467200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:179462400-179467400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:179462400-179467800	Strong transcription	Left Ventricle	heart
39	chr5:179462600-179464600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:179462600-179465000	Strong transcription	Fetal Intestine Large	intestine
41	chr5:179462600-179465400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:179462800-179464200	Weak transcription	Right Ventricle	heart
43	chr5:179462800-179467200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:179462800-179474800	Weak transcription	Fetal Heart	heart
45	chr5:179462800-179477000	Weak transcription	Colonic Mucosa	Colon
46	chr5:179463000-179464400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:179463000-179464600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr5:179463000-179464600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:179463000-179464600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr5:179463000-179464800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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