Variant report

Variant	rs73040535
Chromosome Location	chr19:40492262-40492263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40491586..40493353-chr19:40595299..40596901,2	MCF-7	breast:
2	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:
3	chr19:40482332..40484056-chr19:40492145..40494034,2	MCF-7	breast:
4	chr19:40491047..40493453-chr19:40495126..40496667,2	K562	blood:
5	chr19:40490913..40493300-chr19:40497189..40499591,2	K562	blood:
6	chr19:40491800..40493887-chr19:40495833..40498689,2	K562	blood:

Variant related genes	Relation type
ENSG00000197782	Chromatin interaction
ENSG00000269749	Chromatin interaction
ENSG00000221233	Chromatin interaction
ENSG00000269296	Chromatin interaction
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11878670	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879271	0.82[ASN][1000 genomes]
rs11880843	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881551	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883342	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052060	0.82[ASN][1000 genomes]
rs16974069	0.85[EUR][1000 genomes]
rs55673424	1.00[ASN][1000 genomes]
rs55718963	1.00[ASN][1000 genomes]
rs55838062	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55873814	1.00[ASN][1000 genomes]
rs56040936	0.82[ASN][1000 genomes]
rs56108413	0.82[ASN][1000 genomes]
rs7250934	1.00[ASN][1000 genomes]
rs73040537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040542	0.92[EUR][1000 genomes]
rs73040556	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040573	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040578	0.85[EUR][1000 genomes]
rs73052630	0.82[ASN][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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40477800-40501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40478600-40501800	Weak transcription	Right Atrium	heart
3	chr19:40485800-40494600	ZNF genes & repeats	A549	lung
4	chr19:40486800-40492800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:40487200-40499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40487600-40501800	Weak transcription	Right Ventricle	heart
7	chr19:40488200-40492400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:40488200-40497000	Weak transcription	Pancreas	Pancrea
9	chr19:40488200-40497400	Weak transcription	Gastric	stomach
10	chr19:40488200-40499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:40488200-40501800	Weak transcription	Esophagus	oesophagus
12	chr19:40488400-40492600	Weak transcription	Brain Angular Gyrus	brain
13	chr19:40488400-40501800	Weak transcription	Left Ventricle	heart
14	chr19:40488800-40501800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:40489000-40501600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:40489400-40494800	Weak transcription	Placenta	Placenta
17	chr19:40489600-40500200	Weak transcription	Fetal Kidney	kidney
18	chr19:40490000-40492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:40490000-40492400	Weak transcription	HUVEC	blood vessel
20	chr19:40490000-40492600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:40490000-40492600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:40490000-40493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:40490000-40497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:40490200-40492400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:40490200-40492400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:40490200-40492400	Weak transcription	Psoas Muscle	Psoas
27	chr19:40490200-40499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:40490200-40499600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:40490200-40499800	Weak transcription	Lung	lung
30	chr19:40490200-40501600	Weak transcription	HSMM	muscle
31	chr19:40490200-40501600	Weak transcription	Osteobl	bone
32	chr19:40490200-40501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:40490200-40501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:40490200-40502400	Weak transcription	Aorta	Aorta
35	chr19:40490400-40499600	Weak transcription	Fetal Thymus	thymus
36	chr19:40490400-40501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:40491000-40502200	Weak transcription	Ovary	ovary
38	chr19:40492200-40493400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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