Variant report

Variant	rs72838326
Chromosome Location	chr5:167723152-167723153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167722620..167723210-chr5:167741876..167742482,2	MCF-7	breast:
2	chr5:167721263..167723335-chr5:167744275..167746095,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72822609	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72838318	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7721532	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72838326	WWC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167720400-167723200	Enhancers	Fetal Brain Male	brain
2	chr5:167720400-167724200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:167720400-167726000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:167720600-167727000	Weak transcription	GM12878-XiMat	blood
5	chr5:167720800-167724000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:167721200-167724400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:167721600-167724200	Enhancers	Placenta	Placenta
8	chr5:167721800-167724000	Enhancers	HepG2	liver
9	chr5:167722000-167723200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:167722000-167723200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:167722000-167723200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:167722000-167723200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:167722000-167723200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:167722000-167723400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:167722000-167723400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:167722000-167723400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:167722000-167723400	Enhancers	Osteobl	bone
18	chr5:167722000-167724000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:167722000-167724000	Genic enhancers	Fetal Intestine Small	intestine
20	chr5:167722000-167724000	Enhancers	Stomach Mucosa	stomach
21	chr5:167722000-167724200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:167722200-167723400	Enhancers	Fetal Lung	lung
23	chr5:167722200-167723400	Enhancers	NH-A	brain
24	chr5:167722200-167723600	Enhancers	Fetal Intestine Large	intestine
25	chr5:167722400-167723200	Enhancers	Brain Germinal Matrix	brain
26	chr5:167722400-167723200	Weak transcription	Fetal Kidney	kidney
27	chr5:167722400-167723400	Enhancers	Fetal Heart	heart
28	chr5:167722600-167723200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:167722600-167723200	Enhancers	Ovary	ovary
30	chr5:167722600-167723400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:167722600-167723400	Flanking Active TSS	Fetal Brain Female	brain
32	chr5:167722600-167723600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:167722600-167724200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:167722600-167724400	Enhancers	Brain Hippocampus Middle	brain
35	chr5:167722600-167724400	Enhancers	Gastric	stomach
36	chr5:167722800-167723200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:167722800-167723200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr5:167722800-167723200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:167722800-167723200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:167722800-167723200	Flanking Active TSS	HMEC	breast
41	chr5:167722800-167723200	Transcr. at gene 5' and 3'	NHEK	skin
42	chr5:167722800-167723400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:167722800-167723400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:167722800-167723400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:167722800-167723400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:167722800-167723400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:167722800-167723400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr5:167722800-167723400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:167722800-167723400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:167722800-167723600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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