Variant report

Variant	rs74021506
Chromosome Location	chr15:73073313-73073314
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	chr15:73072441-73074185	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:73072851-73073363	GM12878	blood:	n/a	n/a
3	ZNF263	chr15:73073280-73073883	HEK293-T-REx	kidney:	n/a	chr15:73073453-73073474
4	POLR2A	chr15:73072978-73073925	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:
2	chr15:73072574..73074689-chr15:73091514..73094026,2	K562	blood:
3	chr15:73070867..73073438-chr15:73080121..73082937,2	K562	blood:

Variant related genes	Relation type
ADPGK-AS1	TF binding region
ENSG00000159322	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12324257	1.00[AMR][1000 genomes]
rs13329347	1.00[AMR][1000 genomes]
rs2577576	1.00[AMR][1000 genomes]
rs28413514	1.00[AMR][1000 genomes]
rs28451211	1.00[AMR][1000 genomes]
rs28451625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463280	1.00[AMR][1000 genomes]
rs28483407	1.00[AMR][1000 genomes]
rs28516420	1.00[AMR][1000 genomes]
rs28567078	1.00[AMR][1000 genomes]
rs28575961	1.00[AMR][1000 genomes]
rs28635032	1.00[AMR][1000 genomes]
rs28649245	1.00[AMR][1000 genomes]
rs28687667	1.00[AMR][1000 genomes]
rs28734818	1.00[AMR][1000 genomes]
rs74024328	0.91[AFR][1000 genomes];1.00[AMR][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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
2	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
6	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:73061400-73073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:73061400-73073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
11	chr15:73062600-73073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:73062800-73073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:73062800-73074000	Weak transcription	Small Intestine	intestine
14	chr15:73065000-73073800	Weak transcription	HMEC	breast
15	chr15:73065000-73074200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:73065200-73073800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:73065400-73074000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:73065400-73074200	Weak transcription	Brain Germinal Matrix	brain
19	chr15:73065600-73073600	Weak transcription	Brain Anterior Caudate	brain
20	chr15:73066000-73073600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:73066400-73073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:73066800-73074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:73067000-73074200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:73067000-73075000	Weak transcription	Esophagus	oesophagus
25	chr15:73067200-73073400	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:73067200-73073600	Weak transcription	Brain Substantia Nigra	brain
27	chr15:73067200-73074000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:73067400-73073400	Weak transcription	Brain Angular Gyrus	brain
29	chr15:73067400-73073600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:73067400-73073600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:73067400-73073600	Weak transcription	NHLF	lung
32	chr15:73067400-73073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:73067400-73073800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:73067400-73074000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:73067400-73074000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:73067400-73074200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:73067400-73074200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:73067400-73074200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:73067400-73074200	Weak transcription	Fetal Brain Male	brain
40	chr15:73067400-73074200	Weak transcription	Left Ventricle	heart
41	chr15:73067400-73074200	Weak transcription	Lung	lung
42	chr15:73067400-73074200	Weak transcription	Psoas Muscle	Psoas
43	chr15:73067400-73074200	Weak transcription	Right Ventricle	heart
44	chr15:73067400-73074400	Weak transcription	NH-A	brain
45	chr15:73067400-73074600	Weak transcription	Placenta	Placenta
46	chr15:73067400-73074800	Weak transcription	Fetal Brain Female	brain
47	chr15:73067400-73074800	Weak transcription	HUVEC	blood vessel
48	chr15:73067400-73075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:73067400-73075000	Weak transcription	Aorta	Aorta
50	chr15:73067400-73075000	Weak transcription	Ovary	ovary

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