Variant report

Variant	rs6899227
Chromosome Location	chr5:16734743-16734744
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	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
2	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11133857	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189316	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13356962	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1445946	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28540543	0.94[EUR][1000 genomes]
rs34998371	0.99[EUR][1000 genomes]
rs61561869	0.94[ASN][1000 genomes]
rs72732217	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
3	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
4	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
5	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
6	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16724600-16734800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:16727600-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:16728400-16735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:16728400-16736200	Weak transcription	Ovary	ovary
12	chr5:16728400-16736800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:16728600-16735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:16728600-16735200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:16728600-16735400	Weak transcription	Lung	lung
16	chr5:16728600-16736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:16728800-16735000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:16729000-16734800	Weak transcription	Pancreas	Pancrea
19	chr5:16729000-16735800	Weak transcription	Brain Angular Gyrus	brain
20	chr5:16729000-16736000	Weak transcription	Spleen	Spleen
21	chr5:16729000-16736400	Weak transcription	Psoas Muscle	Psoas
22	chr5:16729800-16735600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:16730000-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:16730000-16735600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:16730200-16735200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr5:16730200-16735200	Strong transcription	HSMMtube	muscle
27	chr5:16730800-16735000	Weak transcription	Stomach Mucosa	stomach
28	chr5:16730800-16735800	Strong transcription	HUVEC	blood vessel
29	chr5:16730800-16741400	Strong transcription	A549	lung
30	chr5:16730800-16744400	Weak transcription	HSMM	muscle
31	chr5:16731000-16735400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:16731600-16735400	Strong transcription	NH-A	brain
33	chr5:16731800-16735600	Enhancers	Fetal Brain Male	brain
34	chr5:16731800-16736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:16732000-16736000	Weak transcription	NHLF	lung
36	chr5:16732000-16736200	Weak transcription	Gastric	stomach
37	chr5:16732200-16734800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:16732200-16735200	Weak transcription	Fetal Stomach	stomach
39	chr5:16732200-16735400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:16732400-16735400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:16732400-16735400	Strong transcription	NHEK	skin
42	chr5:16732400-16736000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:16732400-16736000	Weak transcription	Adipose Nuclei	Adipose
44	chr5:16732600-16735200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:16732800-16735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:16732800-16735000	Weak transcription	HMEC	breast
47	chr5:16732800-16735600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:16733000-16734800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:16733000-16735000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:16733200-16735200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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