Variant report

Variant	rs3795613
Chromosome Location	chr1:169073948-169073949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:169073901-169073996	HepG2	liver:	n/a	chr1:169073926-169073946 chr1:169073925-169073940

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
2	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
3	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
4	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
5	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP1B1-1	chr1:169073948-169074145	XLOC_000457
2	lnc-ATP1B1-1	chr1:169073947-169074145	NONHSAT007454

No data

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000117475	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000203601	Chromatin interaction
ENSG00000143153	Chromatin interaction
ENSG00000143156	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10919057	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10919059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021894	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17349138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892090	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1922924	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926516	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
4	chr1:169069200-169074400	Enhancers	HepG2	liver
5	chr1:169070600-169074400	Enhancers	A549	lung
6	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:169070800-169074200	Weak transcription	Liver	Liver
8	chr1:169071000-169074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:169071600-169074400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:169071600-169074400	Enhancers	Stomach Mucosa	stomach
11	chr1:169071600-169074600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:169072000-169074400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:169072000-169074400	Weak transcription	Fetal Lung	lung
14	chr1:169072200-169074800	Weak transcription	Right Atrium	heart
15	chr1:169072400-169074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:169072400-169074600	Weak transcription	Fetal Brain Female	brain
17	chr1:169072400-169075000	Weak transcription	Aorta	Aorta
18	chr1:169072600-169074400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:169072600-169074400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr1:169072600-169074600	Enhancers	Pancreas	Pancrea
21	chr1:169072600-169074800	Enhancers	Brain Substantia Nigra	brain
22	chr1:169072800-169074000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:169072800-169074000	Weak transcription	Fetal Brain Male	brain
24	chr1:169072800-169074400	Enhancers	Brain Hippocampus Middle	brain
25	chr1:169072800-169074400	Enhancers	Colonic Mucosa	Colon
26	chr1:169072800-169074400	Enhancers	Fetal Kidney	kidney
27	chr1:169072800-169074400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:169072800-169074600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:169072800-169074800	Enhancers	Esophagus	oesophagus
30	chr1:169073000-169074000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:169073000-169074000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:169073000-169074000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:169073000-169074200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:169073000-169074200	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:169073000-169074200	Weak transcription	Lung	lung
36	chr1:169073000-169074200	Weak transcription	Right Ventricle	heart
37	chr1:169073000-169074200	Weak transcription	Hela-S3	cervix
38	chr1:169073000-169074400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:169073000-169074600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:169073000-169074600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:169073000-169074600	Weak transcription	Left Ventricle	heart
42	chr1:169073200-169074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:169073200-169074200	Weak transcription	Brain Anterior Caudate	brain
44	chr1:169073200-169074400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:169073200-169074400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:169073200-169074600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:169073200-169074800	Weak transcription	Ovary	ovary
48	chr1:169073200-169074800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:169073200-169075000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:169073400-169074200	Weak transcription	Stomach Smooth Muscle	stomach

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