Variant report

Variant	rs11954736
Chromosome Location	chr5:167760730-167760731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167741881..167744596-chr5:167758725..167761667,2	MCF-7	breast:
2	chr5:167750597..167752285-chr5:167759409..167761522,2	MCF-7	breast:
3	chr5:167694757..167697092-chr5:167760205..167762595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11949188	0.86[YRI][hapmap]
rs12519918	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17051843	1.00[JPT][hapmap]
rs17070081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632741	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17632785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873605	0.87[ASN][1000 genomes]
rs72822616	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822618	0.91[ASN][1000 genomes]
rs72822619	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822620	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822623	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822625	1.00[ASN][1000 genomes]
rs72822626	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822628	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822629	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828862	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828867	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764221	0.93[YRI][hapmap]
rs7725545	1.00[CHB][hapmap];1.00[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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167752600-167773000	Weak transcription	Esophagus	oesophagus
2	chr5:167755400-167761200	Weak transcription	HMEC	breast
3	chr5:167755600-167761200	Weak transcription	NHDF-Ad	bronchial
4	chr5:167755600-167761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:167756200-167760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:167756200-167761000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:167756200-167761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:167756200-167773000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:167756600-167761200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:167756600-167761200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:167756800-167761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:167756800-167761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:167756800-167761200	Weak transcription	Ovary	ovary
14	chr5:167756800-167761600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:167757200-167761200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:167757200-167761200	Weak transcription	HepG2	liver
17	chr5:167757200-167762000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:167757200-167775200	Weak transcription	Liver	Liver
19	chr5:167757400-167761200	Weak transcription	Fetal Lung	lung
20	chr5:167757600-167761200	Enhancers	A549	lung
21	chr5:167757600-167761400	Weak transcription	Fetal Kidney	kidney
22	chr5:167757600-167761600	Weak transcription	Hela-S3	cervix
23	chr5:167757600-167767400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:167757800-167761200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:167758200-167760800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:167758200-167761800	Weak transcription	Lung	lung
27	chr5:167758200-167772800	Weak transcription	Fetal Intestine Large	intestine
28	chr5:167758600-167768000	Weak transcription	Gastric	stomach
29	chr5:167759200-167761200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:167759600-167761200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:167759600-167761200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:167759600-167762200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:167759600-167767600	Weak transcription	NHEK	skin
34	chr5:167759800-167763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:167760000-167761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:167760000-167761200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:167760000-167762400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:167760000-167763000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:167760000-167763200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:167760000-167764800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:167760200-167761200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:167760200-167761200	Weak transcription	Pancreas	Pancrea
43	chr5:167760200-167761400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:167760200-167762400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:167760200-167763000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:167760400-167762800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:167760600-167761000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:167760600-167762400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:167760600-167762800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:167760600-167763200	Enhancers	Placenta	Placenta

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