Variant report

Variant	rs36122571
Chromosome Location	chr13:111129942-111129943
allele	C/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	chr13:111129888-111130005	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56023078	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56134938	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66546432	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66941288	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657976	0.96[EUR][1000 genomes]
rs72657977	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
5	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
8	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
9	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
11	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
12	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
15	chr13:111109600-111158800	Strong transcription	Ovary	ovary
16	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
19	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
20	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
21	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
23	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
24	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
27	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
30	chr13:111124200-111130400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:111124200-111131400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:111124200-111137400	Strong transcription	NH-A	brain
33	chr13:111124200-111144600	Weak transcription	Liver	Liver
34	chr13:111124400-111136200	Strong transcription	HSMM	muscle
35	chr13:111124400-111139000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr13:111124400-111152000	Strong transcription	Osteobl	bone
37	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:111124600-111131400	Strong transcription	NHLF	lung
39	chr13:111125200-111136800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:111125400-111131400	Strong transcription	NHEK	skin
41	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
42	chr13:111126400-111130000	Strong transcription	HMEC	breast
43	chr13:111127400-111131400	Weak transcription	Esophagus	oesophagus
44	chr13:111127400-111132800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:111127400-111134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:111127400-111134400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:111127400-111134400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:111127400-111147400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr13:111127400-111148200	Weak transcription	Brain Hippocampus Middle	brain
50	chr13:111127400-111148600	Weak transcription	Brain Inferior Temporal Lobe	brain

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