Variant report

Variant	rs73259460
Chromosome Location	chr8:61467192-61467193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:61466133-61467222	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61466223..61468183-chr8:61469041..61471139,3	K562	blood:

Variant related genes	Relation type
ENSG00000255321	TF binding region
RAB2A	TF binding region
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7003660	0.85[AMR][1000 genomes]
rs7014033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259501	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831316	0.97[AFR][1000 genomes];1.00[AMR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
4	chr8:61434800-61480600	Weak transcription	HMEC	breast
5	chr8:61435400-61470800	Weak transcription	NHEK	skin
6	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
8	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
12	chr8:61447600-61469200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:61447600-61472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:61449000-61473800	Weak transcription	HSMMtube	muscle
16	chr8:61449400-61472800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:61451200-61468400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:61451200-61469600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:61451400-61469800	Weak transcription	Lung	lung
20	chr8:61451400-61472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:61451400-61472400	Weak transcription	Ovary	ovary
22	chr8:61451400-61472600	Weak transcription	Fetal Stomach	stomach
23	chr8:61451400-61472600	Weak transcription	Spleen	Spleen
24	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
25	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
26	chr8:61452400-61472400	Weak transcription	Liver	Liver
27	chr8:61453400-61472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:61453800-61470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:61454400-61469800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:61454400-61470000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:61454600-61469000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:61454600-61469000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:61454600-61472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:61455000-61472600	Weak transcription	Left Ventricle	heart
35	chr8:61455600-61469600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:61455600-61471200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:61456200-61471200	Weak transcription	Fetal Thymus	thymus
39	chr8:61456200-61472800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:61457800-61475800	Weak transcription	K562	blood
41	chr8:61458200-61469000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:61458200-61470600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:61458200-61471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:61458200-61472800	Weak transcription	Pancreas	Pancrea
45	chr8:61458200-61480600	Weak transcription	Gastric	stomach
46	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:61459000-61472400	Weak transcription	A549	lung
48	chr8:61459200-61470600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:61459400-61469400	Weak transcription	Primary B cells from cord blood	blood
50	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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