Variant report

Variant	rs11949501
Chromosome Location	chr5:106814731-106814732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106808580..106812777-chr5:106814056..106818233,4	MCF-7	breast:
2	chr5:106812320..106814965-chr5:107717200..107719891,2	K562	blood:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11948482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11954938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12518253	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2288385	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs636137	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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 target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106805600-106822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106806000-106825600	Weak transcription	Aorta	Aorta
3	chr5:106806200-106822200	Weak transcription	HSMM	muscle
4	chr5:106806800-106815600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:106808600-106822600	Weak transcription	Gastric	stomach
7	chr5:106808800-106822800	Weak transcription	Left Ventricle	heart
8	chr5:106809000-106822800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:106809200-106814800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:106810400-106817800	Weak transcription	Right Atrium	heart
11	chr5:106811200-106816800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:106811400-106817200	Weak transcription	Small Intestine	intestine
13	chr5:106811600-106819200	Weak transcription	Fetal Lung	lung
14	chr5:106812000-106815400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:106812000-106815400	Enhancers	NHEK	skin
16	chr5:106812000-106816000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:106812200-106814800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:106812200-106815000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:106812200-106815800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:106812200-106816200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:106812400-106815400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:106812400-106815800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:106812800-106815000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:106813000-106816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:106813000-106817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:106813000-106819200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:106813200-106816600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:106813200-106821400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:106813800-106815400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:106814000-106818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:106814000-106819000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:106814000-106821600	Weak transcription	Right Ventricle	heart
33	chr5:106814200-106815600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:106814200-106819000	Weak transcription	GM12878-XiMat	blood
35	chr5:106814200-106819000	Weak transcription	NHDF-Ad	bronchial
36	chr5:106814400-106817000	Weak transcription	Fetal Heart	heart
37	chr5:106814400-106817600	Weak transcription	Stomach Mucosa	stomach
38	chr5:106814400-106819400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:106814400-106819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:106814400-106821000	Weak transcription	HMEC	breast
41	chr5:106814600-106815000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:106814600-106815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:106814600-106815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:106814600-106815200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:106814600-106816000	Weak transcription	A549	lung
46	chr5:106814600-106816200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:106814600-106818800	Weak transcription	Fetal Kidney	kidney

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