Variant report

Variant	rs4773148
Chromosome Location	chr13:110963428-110963429
allele	G/T
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	chr13:110953431-110965799	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
COL4A1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11840942	1.00[MEX][hapmap]
rs521699	1.00[MEX][hapmap]
rs903355	1.00[MEX][hapmap]
rs9301444	1.00[MEX][hapmap]
rs9521753	1.00[MEX][hapmap]
rs9559763	1.00[MEX][hapmap]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523051	chr13:110951315-110966349	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr13:110960400-110965200	Weak transcription	Hela-S3	cervix
2	chr13:110961200-110963800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:110961200-110964000	Transcr. at gene 5' and 3'	NH-A	brain
4	chr13:110961200-110964800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
5	chr13:110961200-110965600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
6	chr13:110961400-110971400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:110961600-110964200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
8	chr13:110961600-110965200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:110961600-110965600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:110961600-110969200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:110961600-110969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:110961800-110963600	Enhancers	Fetal Heart	heart
13	chr13:110961800-110968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:110961800-110968600	Weak transcription	Gastric	stomach
15	chr13:110962000-110963600	Weak transcription	HSMMtube	muscle
16	chr13:110962000-110963800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:110962000-110963800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:110962000-110963800	Genic enhancers	Fetal Lung	lung
19	chr13:110962000-110963800	Enhancers	HMEC	breast
20	chr13:110962000-110964200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:110962000-110964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:110962000-110964400	Enhancers	NHDF-Ad	bronchial
23	chr13:110962000-110964600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:110962000-110965600	Genic enhancers	NHEK	skin
25	chr13:110962000-110968800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:110962000-110969000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:110962000-110969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:110962000-110971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:110962000-110971400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:110962000-110972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:110962000-110972800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr13:110962200-110964200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:110962200-110964400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:110962200-110965600	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr13:110962200-110965600	Genic enhancers	Fetal Intestine Small	intestine
37	chr13:110962400-110963600	Strong transcription	HSMM	muscle
38	chr13:110962400-110964200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:110962400-110964200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:110962400-110964200	Genic enhancers	Fetal Intestine Large	intestine
41	chr13:110962400-110965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:110962600-110963600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:110962600-110963800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:110962600-110968200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr13:110962800-110964000	Weak transcription	Psoas Muscle	Psoas
47	chr13:110962800-110964200	Enhancers	Right Atrium	heart
48	chr13:110962800-110964200	Genic enhancers	Osteobl	bone
49	chr13:110963000-110963600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:110963000-110963600	Enhancers	Colonic Mucosa	Colon

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