Variant report

Variant	rs73780543
Chromosome Location	chr6:144685083-144685084
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144683606..144685239-chr6:144688766..144690435,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55751309	0.91[AFR][1000 genomes]
rs55842866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632768	1.00[AMR][1000 genomes]
rs57945244	1.00[AMR][1000 genomes]
rs58244219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58476463	1.00[AMR][1000 genomes]
rs58595212	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58683489	0.91[AFR][1000 genomes]
rs60593456	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60800156	1.00[AMR][1000 genomes]
rs61128349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61224948	1.00[AMR][1000 genomes]
rs73780530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7766619	1.00[AFR][1000 genomes];1.00[AMR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144663200-144685800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:144665400-144696400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:144670800-144691200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:144671200-144692000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144671800-144685200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
7	chr6:144675400-144685600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:144675600-144692000	Weak transcription	Dnd41	blood
9	chr6:144675800-144687000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:144676000-144685800	Weak transcription	Thymus	Thymus
11	chr6:144676000-144688200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:144676600-144685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:144679000-144685400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:144681600-144685600	Enhancers	Adipose Nuclei	Adipose
15	chr6:144681600-144686600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr6:144681800-144685800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
18	chr6:144682000-144685200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:144682000-144685800	Weak transcription	Placenta	Placenta
20	chr6:144682000-144685800	Weak transcription	Fetal Thymus	thymus
21	chr6:144682000-144691200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:144682000-144693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:144682000-144698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:144682200-144686200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:144682400-144686000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:144682400-144686600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:144682600-144685600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:144682600-144685800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:144682600-144696600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:144682800-144685800	Weak transcription	Osteobl	bone
31	chr6:144683200-144688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:144683400-144685800	Weak transcription	NHDF-Ad	bronchial
33	chr6:144683400-144690400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:144683600-144685400	Weak transcription	Spleen	Spleen
35	chr6:144683600-144685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:144683600-144685800	Weak transcription	Gastric	stomach
37	chr6:144683600-144686000	Weak transcription	Fetal Heart	heart
38	chr6:144683600-144691400	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:144683600-144691400	Weak transcription	Lung	lung
40	chr6:144683600-144699600	Weak transcription	Ovary	ovary
41	chr6:144683800-144685200	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:144683800-144685400	Weak transcription	HUVEC	blood vessel
43	chr6:144683800-144685600	Weak transcription	HSMMtube	muscle
44	chr6:144683800-144685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:144683800-144686000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:144683800-144686800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
48	chr6:144684000-144685200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:144684000-144685200	Weak transcription	GM12878-XiMat	blood
50	chr6:144684000-144685400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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