Variant report

Variant	rs7330729
Chromosome Location	chr13:75942130-75942131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75936738..75942482-chr13:75944415..75947523,6	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1325466	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408930	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17254379	1.00[CEU][hapmap]
rs1821127	0.97[ASN][1000 genomes]
rs2104418	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2328940	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825441	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885286	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6562886	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6562887	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7983831	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7991823	0.97[ASN][1000 genomes]
rs7992747	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998651	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565157	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573529	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573531	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573532	1.00[ASN][1000 genomes]
rs9573533	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75902600-75947000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:75932400-75944400	Weak transcription	Spleen	Spleen
5	chr13:75933000-75943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:75934800-75947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:75936600-75942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:75936600-75942600	Weak transcription	Fetal Stomach	stomach
9	chr13:75936600-75942800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:75936600-75943000	Weak transcription	Ovary	ovary
11	chr13:75936600-75947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:75936600-75947600	Weak transcription	Lung	lung
13	chr13:75937200-75945600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:75937800-75945800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr13:75939200-75943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:75939400-75943000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:75939600-75942400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:75940400-75942400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:75940400-75942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:75940400-75942800	Enhancers	NHDF-Ad	bronchial
21	chr13:75940400-75943400	Enhancers	HSMM	muscle
22	chr13:75940400-75944400	Weak transcription	K562	blood
23	chr13:75940400-75945200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:75940400-75947200	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:75940600-75942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:75940600-75942800	Weak transcription	Left Ventricle	heart
27	chr13:75940600-75943000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:75940600-75946800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:75940600-75947200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr13:75940800-75942400	Weak transcription	Hela-S3	cervix
31	chr13:75940800-75942800	Enhancers	GM12878-XiMat	blood
32	chr13:75941000-75942800	Enhancers	Fetal Kidney	kidney
33	chr13:75941200-75942200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:75941200-75942200	Enhancers	NH-A	brain
35	chr13:75941200-75942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:75941200-75942400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr13:75941200-75942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:75941200-75942800	Weak transcription	Psoas Muscle	Psoas
39	chr13:75941400-75942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:75941400-75942400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:75941400-75942800	Enhancers	Adipose Nuclei	Adipose
42	chr13:75941400-75942800	Flanking Active TSS	HUVEC	blood vessel
43	chr13:75941400-75944200	Weak transcription	Right Ventricle	heart
44	chr13:75941600-75942400	Enhancers	Fetal Heart	heart
45	chr13:75941600-75942600	Enhancers	Brain Anterior Caudate	brain
46	chr13:75941600-75945200	Weak transcription	HepG2	liver
47	chr13:75941600-75946800	Weak transcription	Liver	Liver
48	chr13:75941800-75942200	Enhancers	NHLF	lung
49	chr13:75941800-75942800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:75941800-75942800	Enhancers	NHEK	skin

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