Variant report

Variant	rs56687994
Chromosome Location	chr13:111062701-111062702
allele	A/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	chr13:111061916-111062835	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr13:111062082-111062916	IMR90	lung:	n/a	n/a
3	POLR2A	chr13:111061664-111063139	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr13:111061684-111062809	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000238629	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12853693	0.81[AMR][1000 genomes]
rs34402154	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34992019	0.81[AMR][1000 genomes]
rs35096048	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773177	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773178	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773182	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492267	0.84[EUR][1000 genomes]
rs7140025	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140030	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7318742	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320498	0.81[EUR][1000 genomes]
rs7328731	0.81[AMR][1000 genomes]
rs913397	0.88[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	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	esv3354806	chr13:111059151-111063549	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 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	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
3	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
5	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:111056200-111066000	Enhancers	Lung	lung
7	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr13:111057800-111070400	Enhancers	Right Atrium	heart
9	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
10	chr13:111058400-111062800	Strong transcription	Fetal Intestine Small	intestine
11	chr13:111058800-111063600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:111058800-111063800	Weak transcription	Small Intestine	intestine
13	chr13:111058800-111064200	Weak transcription	Fetal Intestine Large	intestine
14	chr13:111059000-111063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:111059200-111063600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:111059400-111063800	Genic enhancers	Fetal Stomach	stomach
17	chr13:111059400-111065200	Enhancers	Spleen	Spleen
18	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:111059600-111064200	Genic enhancers	Osteobl	bone
20	chr13:111059600-111064400	Enhancers	Aorta	Aorta
21	chr13:111059800-111064800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:111059800-111065200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:111060200-111063400	Weak transcription	Brain Substantia Nigra	brain
24	chr13:111060200-111063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:111060200-111064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:111060200-111064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:111060200-111064200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:111060200-111064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:111060200-111064400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:111060200-111065200	Enhancers	HMEC	breast
31	chr13:111060200-111065600	Weak transcription	Esophagus	oesophagus
32	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
33	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:111060400-111064000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:111060400-111064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr13:111060400-111064400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:111060400-111064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:111060800-111063200	Enhancers	Hela-S3	cervix
39	chr13:111060800-111063600	Weak transcription	A549	lung
40	chr13:111060800-111064000	Weak transcription	NHEK	skin
41	chr13:111061000-111065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:111061200-111063400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:111061200-111063600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:111061200-111064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:111061200-111065800	Enhancers	Colon Smooth Muscle	Colon
47	chr13:111061400-111064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:111061400-111065600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111061400-111065600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:111061400-111065800	Enhancers	Rectal Smooth Muscle	rectum

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