Variant report

Variant	rs148359245
Chromosome Location	chr5:167719591-167719592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs148359245	WWC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167717800-167720000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:167718000-167719800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:167718000-167719800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:167718000-167719800	Active TSS	Esophagus	oesophagus
7	chr5:167718000-167720000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:167718000-167720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:167718200-167719600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:167718200-167719600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:167718200-167719800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:167718200-167719800	Active TSS	Pancreas	Pancrea
14	chr5:167718200-167719800	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:167718200-167719800	Active TSS	HSMM	muscle
16	chr5:167718200-167719800	Active TSS	NHLF	lung
17	chr5:167718200-167720000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:167718200-167720000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:167718200-167720000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:167718200-167720000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:167718200-167720000	Active TSS	Fetal Brain Female	brain
22	chr5:167718200-167720000	Active TSS	HMEC	breast
23	chr5:167718200-167720200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:167718200-167720200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:167718200-167720200	Active TSS	A549	lung
26	chr5:167718200-167720400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:167718200-167720400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr5:167718200-167720400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:167718400-167719600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr5:167718400-167719600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:167718400-167719600	Active TSS	Right Atrium	heart
32	chr5:167718400-167719600	Bivalent/Poised TSS	Thymus	Thymus
33	chr5:167718400-167719800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:167718400-167719800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:167718400-167719800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:167718400-167719800	Active TSS	Brain Angular Gyrus	brain
37	chr5:167718400-167719800	Active TSS	Duodenum Mucosa	Duodenum
38	chr5:167718400-167719800	Active TSS	HepG2	liver
39	chr5:167718400-167719800	Active TSS	NH-A	brain
40	chr5:167718400-167720000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:167718400-167720000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:167718400-167720000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:167718400-167720000	Active TSS	Brain Cingulate Gyrus	brain
44	chr5:167718400-167720000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:167718400-167720000	Active TSS	Hela-S3	cervix
46	chr5:167718400-167720000	Active TSS	NHEK	skin
47	chr5:167718400-167720000	Active TSS	Osteobl	bone
48	chr5:167718400-167720200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:167718400-167720200	Active TSS	Fetal Intestine Large	intestine
50	chr5:167718400-167720400	Active TSS	Gastric	stomach

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