Variant report

Variant	rs73192681
Chromosome Location	chr13:50265068-50265069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50263387..50265868-chr13:50365424..50368677,3	K562	blood:
2	chr13:50264944..50265463-chr3:15900847..15901384,2	MCF-7	breast:
3	chr13:50258208..50260676-chr13:50262902..50265227,2	K562	blood:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
6	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:

Variant related genes	Relation type
ENSG00000206560	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55952201	1.00[ASN][1000 genomes]
rs56255891	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385734	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192656	0.83[EUR][1000 genomes]
rs73192678	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73194413	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320619	0.92[EUR][1000 genomes]
rs7998994	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50263600-50266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:50263800-50266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:50264000-50265200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr13:50264000-50265800	Active TSS	Hela-S3	cervix
5	chr13:50264000-50266000	Active TSS	GM12878-XiMat	blood
6	chr13:50264000-50266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:50264000-50266200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr13:50264000-50266200	Active TSS	HSMM	muscle
9	chr13:50264200-50265200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr13:50264200-50265200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr13:50264200-50265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:50264200-50265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:50264200-50265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:50264200-50265800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr13:50264200-50266000	Active TSS	Lung	lung
16	chr13:50264200-50266000	Active TSS	Pancreas	Pancrea
17	chr13:50264200-50266200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr13:50264200-50266200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr13:50264200-50266200	Active TSS	Ovary	ovary
20	chr13:50264400-50265200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:50264400-50265200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr13:50264400-50265200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr13:50264400-50265200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr13:50264400-50265200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr13:50264400-50265200	Flanking Active TSS	Osteobl	bone
26	chr13:50264400-50265400	Bivalent/Poised TSS	HepG2	liver
27	chr13:50264400-50265800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr13:50264400-50265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:50264400-50265800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:50264400-50265800	Active TSS	Fetal Muscle Trunk	muscle
31	chr13:50264400-50266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:50264400-50266000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr13:50264400-50266000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50264400-50266000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:50264400-50266000	Active TSS	Fetal Intestine Large	intestine
36	chr13:50264400-50266000	Active TSS	A549	lung
37	chr13:50264400-50266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr13:50264400-50266200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:50264400-50266200	Active TSS	Brain Cingulate Gyrus	brain
40	chr13:50264400-50266200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr13:50264400-50266200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:50264400-50266200	Active TSS	Fetal Intestine Small	intestine
43	chr13:50264400-50266200	Active TSS	Fetal Kidney	kidney
44	chr13:50264400-50266200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr13:50264400-50266200	Active TSS	Right Ventricle	heart
46	chr13:50264400-50266200	Active TSS	Thymus	Thymus
47	chr13:50264400-50266200	Active TSS	NHDF-Ad	bronchial
48	chr13:50264400-50266400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:50264400-50266400	Active TSS	Colonic Mucosa	Colon
50	chr13:50264400-50266400	Active TSS	Fetal Brain Female	brain

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