Variant report

Variant	rs4797749
Chromosome Location	chr18:13245736-13245737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13243981..13246911-chr18:13539689..13542169,2	MCF-7	breast:
2	chr18:13238761..13241458-chr18:13244320..13246123,2	MCF-7	breast:
3	chr18:13215937..13222150-chr18:13244092..13248320,7	MCF-7	breast:
4	chr18:13241697..13243575-chr18:13244259..13246294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12455455	0.81[ASN][1000 genomes]
rs12458598	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607576	0.83[ASN][1000 genomes]
rs12955200	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12968182	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12968748	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3901403	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4277409	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4616353	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4797744	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4797747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4797750	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55962651	0.83[ASN][1000 genomes]
rs56191278	0.83[ASN][1000 genomes]
rs62636871	0.83[ASN][1000 genomes]
rs6505789	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67772629	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228009	0.81[EUR][1000 genomes]
rs7244519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9944928	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9952107	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952186	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9952516	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9952649	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9955376	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9955747	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9958724	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9962328	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9967502	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13223800-13259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:13224000-13259800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:13224400-13259800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:13232800-13246200	Weak transcription	Psoas Muscle	Psoas
5	chr18:13233000-13260200	Weak transcription	Colonic Mucosa	Colon
6	chr18:13233200-13245800	Weak transcription	Right Atrium	heart
7	chr18:13233400-13254000	Weak transcription	Spleen	Spleen
8	chr18:13233400-13259000	Weak transcription	Primary T cells from cord blood	blood
9	chr18:13235800-13245800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:13236200-13258800	Weak transcription	Fetal Lung	lung
11	chr18:13237400-13258800	Weak transcription	Adipose Nuclei	Adipose
12	chr18:13237400-13258800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:13237800-13258800	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:13239600-13255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:13240200-13246200	Weak transcription	Liver	Liver
16	chr18:13240200-13256000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:13240400-13246400	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:13240600-13246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:13240600-13252400	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:13240600-13252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:13243200-13260200	Weak transcription	Aorta	Aorta
22	chr18:13243600-13278200	Weak transcription	Dnd41	blood
23	chr18:13243800-13252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:13243800-13252800	Weak transcription	Fetal Stomach	stomach
25	chr18:13244400-13246800	Enhancers	Fetal Brain Male	brain
26	chr18:13244800-13247200	Enhancers	Fetal Brain Female	brain
27	chr18:13245000-13246000	Enhancers	Brain Germinal Matrix	brain
28	chr18:13245000-13246400	Enhancers	Gastric	stomach
29	chr18:13245200-13245800	Enhancers	Pancreas	Pancrea
30	chr18:13245200-13246800	Enhancers	Left Ventricle	heart
31	chr18:13245200-13247200	Enhancers	Fetal Heart	heart
32	chr18:13245400-13253000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:13245600-13246000	Weak transcription	Brain Anterior Caudate	brain
34	chr18:13245600-13246000	Genic enhancers	Thymus	Thymus
35	chr18:13245600-13246200	Genic enhancers	Fetal Thymus	thymus
36	chr18:13245600-13246400	Enhancers	Right Ventricle	heart
37	chr18:13245600-13247000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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