Variant report

Variant	rs7718390
Chromosome Location	chr5:167720121-167720122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167719706..167722622-chr5:167894559..167896628,2	MCF-7	breast:
2	chr5:167718914..167721325-chr5:167913985..167916640,3	MCF-7	breast:
3	chr5:167718924..167721617-chr5:168004476..168006374,2	MCF-7	breast:
4	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113643	Chromatin interaction
ENSG00000113645	Chromatin interaction
ENSG00000120137	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10051069	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475874	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108717	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514628	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12517127	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12519918	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12522231	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17051843	0.81[EUR][1000 genomes]
rs17632741	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72822615	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72838318	1.00[ASN][1000 genomes]
rs72838320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72838323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72838333	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72838335	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7721532	0.95[AMR][1000 genomes];0.98[EUR][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	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	esv3366386	chr5:167717474-167720872	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3397146	chr5:167717924-167720922	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:167718000-167720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:167718200-167720200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:167718200-167720200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:167718200-167720200	Active TSS	A549	lung
8	chr5:167718200-167720400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:167718200-167720400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:167718200-167720400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:167718400-167720200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:167718400-167720200	Active TSS	Fetal Intestine Large	intestine
13	chr5:167718400-167720400	Active TSS	Gastric	stomach
14	chr5:167718400-167720600	Active TSS	Fetal Kidney	kidney
15	chr5:167718600-167720200	Active TSS	Liver	Liver
16	chr5:167718600-167720200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
17	chr5:167718600-167720600	Active TSS	GM12878-XiMat	blood
18	chr5:167718600-167720800	Active TSS	Brain Anterior Caudate	brain
19	chr5:167718800-167720200	Active TSS	Lung	lung
20	chr5:167719200-167722000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:167719200-167722800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:167719400-167720200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:167719400-167720400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:167719400-167720400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr5:167719400-167720400	Flanking Active TSS	Placenta	Placenta
26	chr5:167719600-167720200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:167719600-167720200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:167719600-167720200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:167719600-167720200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr5:167719600-167720200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:167719600-167720200	Bivalent/Poised TSS	Right Ventricle	heart
32	chr5:167719600-167722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:167719600-167722000	Weak transcription	Ovary	ovary
34	chr5:167719800-167720200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:167719800-167720200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr5:167719800-167720200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr5:167719800-167720200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr5:167719800-167720200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:167719800-167720200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr5:167719800-167720200	Flanking Active TSS	HepG2	liver
41	chr5:167719800-167720200	Flanking Active TSS	NH-A	brain
42	chr5:167719800-167720200	Flanking Active TSS	NHLF	lung
43	chr5:167719800-167720400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:167719800-167720400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:167719800-167720400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:167719800-167720400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr5:167719800-167720400	Flanking Active TSS	Esophagus	oesophagus
48	chr5:167719800-167720400	Flanking Active TSS	Fetal Brain Male	brain
49	chr5:167719800-167720400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
50	chr5:167719800-167720600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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