Variant report

Variant	rs73780546
Chromosome Location	chr6:144699280-144699281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144687742..144689243-chr6:144697539..144700530,2	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]
rs73780543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780545	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
2	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
3	chr6:144683600-144699600	Weak transcription	Ovary	ovary
4	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
5	chr6:144686600-144699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
9	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:144692400-144702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:144692400-144702200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:144693200-144699800	Weak transcription	GM12878-XiMat	blood
13	chr6:144694800-144699400	Weak transcription	NHEK	skin
14	chr6:144695000-144700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:144695600-144699800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:144696400-144701200	Strong transcription	Primary B cells from cord blood	blood
17	chr6:144696600-144699600	Weak transcription	Dnd41	blood
18	chr6:144697000-144699400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:144697000-144700000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:144697200-144699600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:144697200-144699600	Weak transcription	Pancreas	Pancrea
23	chr6:144697200-144700400	Weak transcription	Lung	lung
24	chr6:144697200-144732600	Weak transcription	Gastric	stomach
25	chr6:144697400-144700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:144697400-144701400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:144698000-144701200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:144698200-144699800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:144698200-144700800	Enhancers	Psoas Muscle	Psoas
30	chr6:144698200-144700800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:144698200-144700800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:144698200-144701000	Enhancers	Fetal Heart	heart
33	chr6:144698200-144701200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:144698200-144701400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:144698400-144699400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:144698400-144699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:144698400-144699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:144698400-144699800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:144698400-144700000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:144698400-144700000	Genic enhancers	HepG2	liver
41	chr6:144698400-144700800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:144698400-144700800	Enhancers	Right Atrium	heart
43	chr6:144698400-144700800	Enhancers	Spleen	Spleen
44	chr6:144698400-144700800	Enhancers	NHLF	lung
45	chr6:144698400-144701000	Enhancers	Stomach Mucosa	stomach
46	chr6:144698400-144701000	Enhancers	HSMMtube	muscle
47	chr6:144698400-144701000	Enhancers	NHDF-Ad	bronchial
48	chr6:144698600-144699800	Enhancers	Brain Anterior Caudate	brain
49	chr6:144698600-144700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:144698600-144700600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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