Variant report

Variant	rs72743911
Chromosome Location	chr1:212983399-212983400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212973105..212975746-chr1:212981833..212983410,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs41277152	1.00[ASN][1000 genomes]
rs55851960	0.82[EUR][1000 genomes]
rs72743920	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743925	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743933	0.83[EUR][1000 genomes]
rs72743935	0.83[EUR][1000 genomes]
rs72743938	0.83[EUR][1000 genomes]
rs72743992	0.81[AMR][1000 genomes]
rs72758435	0.82[EUR][1000 genomes]
rs72758446	0.83[EUR][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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72743911	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
3	chr1:212966400-212984000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:212966400-212985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:212966400-212988200	Weak transcription	Fetal Heart	heart
6	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
7	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
8	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
9	chr1:212967000-212984400	Weak transcription	Spleen	Spleen
10	chr1:212967200-212984000	Weak transcription	NHDF-Ad	bronchial
11	chr1:212967200-212988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:212967200-212989600	Weak transcription	NHLF	lung
14	chr1:212968000-212987400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:212968400-212988000	Weak transcription	Stomach Mucosa	stomach
16	chr1:212969600-212989000	Weak transcription	HepG2	liver
17	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:212970600-212985200	Weak transcription	Pancreas	Pancrea
19	chr1:212970600-212989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:212971000-212989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:212971200-212983800	Weak transcription	NH-A	brain
22	chr1:212971200-212990200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:212971400-212987600	Weak transcription	Small Intestine	intestine
24	chr1:212971400-212987800	Weak transcription	A549	lung
25	chr1:212971600-212988000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:212972000-212987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:212972400-212987800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:212972400-212993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:212972600-212983600	Weak transcription	Fetal Kidney	kidney
30	chr1:212972600-212988000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:212972600-212988000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:212972600-212988000	Weak transcription	Fetal Intestine Small	intestine
33	chr1:212972600-212989800	Weak transcription	HSMMtube	muscle
34	chr1:212972600-212990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:212973000-212988600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:212975600-212989600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:212975800-212984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:212975800-212987200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
40	chr1:212976000-212989600	Weak transcription	HSMM	muscle
41	chr1:212976000-212989600	Weak transcription	K562	blood
42	chr1:212976000-212990200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:212976000-212990200	Weak transcription	Fetal Brain Female	brain
44	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:212978200-212984000	Weak transcription	Osteobl	bone
46	chr1:212978200-212988000	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:212978200-212988400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:212978200-212989600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:212978200-212989800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:212978400-212989800	Weak transcription	Brain Germinal Matrix	brain

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