Variant report

Variant	rs73483835
Chromosome Location	chr13:50264923-50264924
allele	C/G
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	chr13:50219670..50221939-chr13:50262892..50264928,2	K562	blood:
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
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1043729	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12584003	0.83[EUR][1000 genomes]
rs13313256	0.92[EUR][1000 genomes]
rs17073322	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17073347	0.92[EUR][1000 genomes]
rs17073356	0.92[EUR][1000 genomes]
rs1819191	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885723	0.84[EUR][1000 genomes]
rs1969739	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998363	0.92[EUR][1000 genomes]
rs2181184	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236326	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736830	0.95[ASN][1000 genomes]
rs3742094	0.84[EUR][1000 genomes]
rs3782929	0.92[EUR][1000 genomes]
rs4941655	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4941656	0.84[EUR][1000 genomes]
rs4942862	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942865	0.84[EUR][1000 genomes]
rs56738401	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57118905	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57783887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57794226	0.92[EUR][1000 genomes]
rs58124341	0.84[EUR][1000 genomes]
rs60019803	0.92[EUR][1000 genomes]
rs60106669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60856213	0.92[EUR][1000 genomes]
rs7321391	0.84[EUR][1000 genomes]
rs7334018	0.92[EUR][1000 genomes]
rs7335016	0.84[EUR][1000 genomes]
rs7335310	0.92[EUR][1000 genomes]
rs73485710	0.84[EUR][1000 genomes]
rs765291	0.80[EUR][1000 genomes]
rs765292	0.84[EUR][1000 genomes]
rs7984711	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7988114	0.83[EUR][1000 genomes]
rs7989633	0.84[EUR][1000 genomes]
rs7990293	0.85[ASN][1000 genomes]
rs7993631	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7993860	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7994062	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535306	0.96[ASN][1000 genomes]
rs9591293	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591294	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9591296	0.92[EUR][1000 genomes]
rs9596172	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596173	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596174	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596175	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596176	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596181	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9596188	0.92[EUR][1000 genomes]
rs9596189	0.92[EUR][1000 genomes]
rs9596194	0.84[EUR][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	chr13:50263800-50265000	Flanking Active TSS	Dnd41	blood
3	chr13:50263800-50265000	Flanking Active TSS	HUVEC	blood vessel
4	chr13:50263800-50266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:50264000-50265200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr13:50264000-50265800	Active TSS	Hela-S3	cervix
7	chr13:50264000-50266000	Active TSS	GM12878-XiMat	blood
8	chr13:50264000-50266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:50264000-50266200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:50264000-50266200	Active TSS	HSMM	muscle
11	chr13:50264200-50265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50264200-50265000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:50264200-50265000	Flanking Active TSS	NH-A	brain
14	chr13:50264200-50265200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr13:50264200-50265200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr13:50264200-50265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:50264200-50265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:50264200-50265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:50264200-50265800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr13:50264200-50266000	Active TSS	Lung	lung
21	chr13:50264200-50266000	Active TSS	Pancreas	Pancrea
22	chr13:50264200-50266200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr13:50264200-50266200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr13:50264200-50266200	Active TSS	Ovary	ovary
25	chr13:50264400-50265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:50264400-50265000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:50264400-50265000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr13:50264400-50265000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr13:50264400-50265000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr13:50264400-50265000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr13:50264400-50265000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr13:50264400-50265000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr13:50264400-50265000	Flanking Active TSS	NHEK	skin
34	chr13:50264400-50265200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr13:50264400-50265200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr13:50264400-50265200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr13:50264400-50265200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr13:50264400-50265200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr13:50264400-50265200	Flanking Active TSS	Osteobl	bone
40	chr13:50264400-50265400	Bivalent/Poised TSS	HepG2	liver
41	chr13:50264400-50265800	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr13:50264400-50265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:50264400-50265800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:50264400-50265800	Active TSS	Fetal Muscle Trunk	muscle
45	chr13:50264400-50266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:50264400-50266000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr13:50264400-50266000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:50264400-50266000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:50264400-50266000	Active TSS	Fetal Intestine Large	intestine
50	chr13:50264400-50266000	Active TSS	A549	lung

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