Variant report

Variant	rs7983561
Chromosome Location	chr13:110964322-110964323
allele	A/G
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	chr13:110964258-110964430	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr13:110953431-110965799	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
COL4A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7988493	0.93[AFR][1000 genomes];0.87[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	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110960400-110965200	Weak transcription	Hela-S3	cervix
2	chr13:110961200-110964800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
3	chr13:110961200-110965600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
4	chr13:110961400-110971400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:110961600-110965200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:110961600-110965600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:110961600-110969200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:110961600-110969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110961800-110968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:110961800-110968600	Weak transcription	Gastric	stomach
11	chr13:110962000-110964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:110962000-110964400	Enhancers	NHDF-Ad	bronchial
13	chr13:110962000-110964600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:110962000-110965600	Genic enhancers	NHEK	skin
15	chr13:110962000-110968800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:110962000-110969000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:110962000-110969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:110962000-110971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:110962000-110971400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:110962000-110972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:110962000-110972800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:110962200-110964400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:110962200-110965600	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr13:110962200-110965600	Genic enhancers	Fetal Intestine Small	intestine
26	chr13:110962400-110965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:110962600-110968200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:110963000-110964600	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr13:110963000-110967600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:110963200-110964400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:110963200-110964800	Transcr. at gene 5' and 3'	NHLF	lung
33	chr13:110963200-110965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:110963200-110965000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:110963400-110964400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
36	chr13:110963400-110964400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:110963400-110964400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:110963400-110964400	Transcr. at gene 5' and 3'	Lung	lung
39	chr13:110963400-110964600	Transcr. at gene 5' and 3'	Right Ventricle	heart
40	chr13:110963600-110964400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
41	chr13:110963600-110964600	Weak transcription	Fetal Kidney	kidney
42	chr13:110963600-110972000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:110963800-110964400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:110963800-110964400	Flanking Active TSS	Aorta	Aorta
45	chr13:110963800-110964400	Enhancers	Fetal Lung	lung
46	chr13:110963800-110964400	Flanking Active TSS	Left Ventricle	heart
47	chr13:110963800-110964600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:110963800-110965600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr13:110963800-110965600	Genic enhancers	HUVEC	blood vessel
50	chr13:110963800-110966800	Enhancers	HUES6 Cell Line	embryonic stem cell

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