Variant report

Variant	rs16831393
Chromosome Location	chr1:160101981-160101982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr1:160101682-160102174	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:160101980-160102065	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:160101920-160102155	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR3C1	chr1:160101674-160102321	A549	lung:	n/a	n/a
5	NR3C1	chr1:160101664-160102128	ECC-1	luminal epithelium:	n/a	n/a
6	NR3C1	chr1:160101816-160102128	A549	lung:	n/a	n/a
7	NR3C1	chr1:160101715-160102257	A549	lung:	n/a	n/a
8	NR3C1	chr1:160101762-160102234	A549	lung:	n/a	n/a
9	NR3C1	chr1:160101715-160102147	A549	lung:	n/a	n/a
10	NR3C1	chr1:160101707-160102167	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160097137..160099642-chr1:160101829..160104164,2	K562	blood:

No data

Variant related genes	Relation type
ATP1A2	TF binding region
ENSG00000018625	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16831402	0.97[AFR][1000 genomes]
rs59070876	0.81[AFR][1000 genomes]
rs61435997	0.81[AFR][1000 genomes]
rs61734529	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv3453724	chr1:160098374-160136495	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv3453725	chr1:160098456-160136351	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160088000-160146200	Weak transcription	Spleen	Spleen
2	chr1:160088800-160107400	Weak transcription	Fetal Brain Female	brain
3	chr1:160090200-160104600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:160090600-160112600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:160092400-160112200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:160093800-160106600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:160094000-160112000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:160094800-160110200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:160095000-160103200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:160095400-160108200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:160097000-160109800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr1:160097200-160103400	Enhancers	Psoas Muscle	Psoas
13	chr1:160097200-160103400	Enhancers	Right Atrium	heart
14	chr1:160097200-160112200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:160097400-160104800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:160097400-160107600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:160098000-160102600	Strong transcription	Rectal Smooth Muscle	rectum
18	chr1:160098200-160102000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:160098400-160103200	Strong transcription	Colon Smooth Muscle	Colon
20	chr1:160098600-160112200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:160099600-160102400	Enhancers	HepG2	liver
22	chr1:160099600-160107400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:160099800-160104200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:160099800-160109000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:160100000-160102600	Enhancers	Adipose Nuclei	Adipose
26	chr1:160100000-160114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:160100200-160102200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:160100200-160102200	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr1:160100200-160103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:160100400-160107200	Strong transcription	HSMMtube	muscle
31	chr1:160100600-160102000	Weak transcription	Aorta	Aorta
32	chr1:160100600-160105800	Weak transcription	Ovary	ovary
33	chr1:160100600-160112000	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:160100800-160102000	Genic enhancers	Brain Anterior Caudate	brain
35	chr1:160100800-160102000	Weak transcription	Esophagus	oesophagus
36	chr1:160100800-160102800	Enhancers	Left Ventricle	heart
37	chr1:160100800-160104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:160100800-160104200	Weak transcription	Fetal Stomach	stomach
39	chr1:160100800-160105200	Weak transcription	HSMM	muscle
40	chr1:160101000-160102200	Enhancers	Liver	Liver
41	chr1:160101200-160104000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:160101200-160106600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:160101400-160102200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:160101400-160102200	Weak transcription	Right Ventricle	heart
45	chr1:160101400-160102200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:160101400-160102800	Weak transcription	Lung	lung
47	chr1:160101400-160103800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:160101400-160104400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:160101400-160105000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:160101600-160102200	Enhancers	Pancreas	Pancrea

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