Variant report

Variant	rs72743925
Chromosome Location	chr1:213004927-213004928
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17019780	0.80[EUR][1000 genomes]
rs41277152	1.00[ASN][1000 genomes]
rs72743911	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743920	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743933	0.89[EUR][1000 genomes]
rs72743935	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72743938	0.89[EUR][1000 genomes]
rs72743992	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	nsv549149	chr1:212997385-213009657	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv549150	chr1:212999701-213011812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv549151	chr1:213002088-213007296	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv549152	chr1:213002088-213007465	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv549153	chr1:213002088-213007542	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv549154	chr1:213002088-213009469	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv549155	chr1:213002088-213009657	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2421907	chr1:213002088-213010436	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv549156	chr1:213002088-213011812	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv549157	chr1:213002088-213018125	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv8791	chr1:213002097-213014844	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3321128	chr1:213002226-213013781	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv826564	chr1:213002232-213013565	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv3321127	chr1:213002235-213013744	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	esv3321126	chr1:213002278-213013753	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	esv3321130	chr1:213002280-213013711	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv3349041	chr1:213002330-213013685	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv3321131	chr1:213002369-213013669	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv549158	chr1:213003428-213007542	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	nsv549159	chr1:213003428-213008227	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	nsv549160	chr1:213003428-213009469	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
26	nsv549161	chr1:213003428-213009657	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
27	nsv549162	chr1:213003428-213011812	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
28	nsv549163	chr1:213003428-213018125	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
29	esv2763825	chr1:213004455-213014453	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
30	esv10902	chr1:213004863-213013140	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72743925	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:213001400-213005800	Weak transcription	A549	lung
6	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
7	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:213002800-213006000	Weak transcription	HepG2	liver
12	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:213004600-213005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:213004600-213005000	Enhancers	GM12878-XiMat	blood
15	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:213004800-213005000	Enhancers	Primary B cells from cord blood	blood
18	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood

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