Variant report

Variant	rs149548451
Chromosome Location	chr5:167717822-167717823
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:167716728-167722319	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF12	chr5:167717776-167718902	A549	lung:	n/a	chr5:167718686-167718693
3	MAX	chr5:167717753-167719758	A549	lung:	n/a	chr5:167718916-167718925

No.	Distal block	Cell Line	Cell type
1	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
2	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
3	chr5:167716529..167718566-chr5:167880589..167883099,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2509622	chr5:167717822-167717822	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2049746	chr5:167717822-167717823	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167704600-167718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:167709600-167718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:167709600-167718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167709600-167718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:167712600-167718400	Weak transcription	Gastric	stomach
6	chr5:167713000-167718000	Enhancers	Fetal Brain Male	brain
7	chr5:167713200-167718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167713400-167718000	Enhancers	GM12878-XiMat	blood
9	chr5:167713600-167718000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:167713600-167718000	Enhancers	Placenta	Placenta
11	chr5:167713800-167718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167714000-167718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:167714600-167718200	Enhancers	Fetal Intestine Small	intestine
14	chr5:167715800-167718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:167715800-167718000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:167715800-167718000	Weak transcription	Colonic Mucosa	Colon
17	chr5:167715800-167718000	Weak transcription	Esophagus	oesophagus
18	chr5:167715800-167718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:167716000-167718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:167716200-167718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:167716200-167718000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:167716200-167718000	Enhancers	Liver	Liver
23	chr5:167716200-167718000	Weak transcription	Fetal Lung	lung
24	chr5:167716200-167718000	Enhancers	HMEC	breast
25	chr5:167716200-167718200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:167716200-167718200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:167716400-167718000	Enhancers	Hela-S3	cervix
28	chr5:167716400-167718000	Enhancers	NHEK	skin
29	chr5:167716400-167718200	Weak transcription	NH-A	brain
30	chr5:167717000-167718200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:167717200-167718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:167717200-167718000	Enhancers	Fetal Kidney	kidney
33	chr5:167717200-167718000	Weak transcription	Stomach Mucosa	stomach
34	chr5:167717200-167718200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:167717200-167718200	Enhancers	HSMMtube	muscle
36	chr5:167717400-167718000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:167717400-167718000	Enhancers	Fetal Brain Female	brain
38	chr5:167717800-167718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:167717800-167718000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:167717800-167718000	Enhancers	Fetal Intestine Large	intestine
41	chr5:167717800-167718200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:167717800-167718200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:167717800-167718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:167717800-167718200	Enhancers	Pancreas	Pancrea
45	chr5:167717800-167718200	Flanking Active TSS	A549	lung
46	chr5:167717800-167718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:167717800-167718400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:167717800-167718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:167717800-167718400	Flanking Active TSS	HepG2	liver
50	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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