Variant report

Variant	rs7944183
Chromosome Location	chr11:49123972-49123973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49123970-49124020	NH-A	brain:	n/a
2	chr11:49123970-49124020	Caco-2	colon:	n/a
3	chr11:49123970-49124020	AG09309	skin:	n/a
4	chr11:49123970-49124020	HMEC	breast:	n/a
5	chr11:49123970-49124020	GM12878	blood:	n/a
6	chr11:49123970-49124020	HepG2	liver:	n/a
7	chr11:49123970-49124020	RPTEC	kidney:	n/a
8	chr11:49123970-49124020	Jurkat	blood:	n/a
9	chr11:49123970-49124020	T-47D	breast:	n/a
10	chr11:49123970-49124020	NT2-D1	testis:	n/a
11	chr11:49123970-49124020	GM19239	blood:	n/a
12	chr11:49123970-49124020	HNPCEpiC	eye:	n/a
13	chr11:49123970-49124020	SKMC	muscle:	n/a
14	chr11:49123970-49124020	HRE	kidney:	n/a
15	chr11:49123970-49124020	MCF10A-Er-Src	breast:	n/a
16	chr11:49123970-49124020	AG09319	gingival:	n/a
17	chr11:49123970-49124020	HEK293	kidney:	embryo
18	chr11:49123970-49124020	K562	blood:	n/a
19	chr11:49123970-49124020	HRCEpiC	kidney:	n/a
20	chr11:49123970-49124020	HCM	heart:	n/a
21	chr11:49123970-49124020	HCT-116	colon:	n/a
22	chr11:49123970-49124020	ProgFib	skin:	n/a
23	chr11:49123970-49124020	H1-hESC	embryonic stem cell:	embryo
24	chr11:49123970-49124020	NB4	blood:	n/a
25	chr11:49123970-49124020	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:49123970-49124020	MCF-7	breast:	n/a
27	chr11:49123970-49124020	HEEpiC	esophagus:	n/a
28	chr11:49123970-49124020	HRPEpiC	eye:	n/a
29	chr11:49123970-49124020	PFSK-1	brain:	n/a
30	chr11:49123970-49124020	SAEC	small airway:	n/a
31	chr11:49123970-49124020	BJ	skin:	n/a
32	chr11:49123970-49124020	SK-N-SH_RA	brain:	n/a
33	chr11:49123970-49124020	AG04450	lung:	fetal
34	chr11:49123970-49124020	CMK	blood:	n/a
35	chr11:49123970-49124020	PANC-1	pancreas:	n/a
36	chr11:49123970-49124020	NHBE	bronchial:	n/a
37	chr11:49123970-49124020	HCPEpiC	choroid plexus:	n/a
38	chr11:49123970-49124020	AG04449	skin:	fetal
39	chr11:49123970-49124020	HCF	heart:	n/a
40	chr11:49123970-49124020	ECC-1	luminal epithelium:	n/a
41	chr11:49123970-49124020	LNCaP	prostate:	n/a
42	chr11:49123970-49124020	PrEC	prostate:	n/a
43	chr11:49123970-49124020	HIPEpiC	eye:	n/a
44	chr11:49123970-49124020	HUVEC	blood vessel:	n/a
45	chr11:49123970-49124020	U87	brain:	n/a
46	chr11:49123970-49124020	SK-N-SH	brain:	n/a
47	chr11:49123970-49124020	BE2_C	brain:	n/a
48	chr11:49123970-49124020	ovcar-3	ovarian:	n/a
49	chr11:49123970-49124020	Hela-S3	cervix:	n/a
50	chr11:49123970-49124020	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000254412	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs17815807	0.87[AMR][1000 genomes]
rs17821682	0.87[AMR][1000 genomes]
rs2002868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2031086	0.87[AMR][1000 genomes]
rs2866146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34534366	0.87[AMR][1000 genomes]
rs3868868	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3872565	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55869423	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55956951	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55987311	0.87[AMR][1000 genomes]
rs56039736	0.87[AMR][1000 genomes]
rs56307959	0.83[EUR][1000 genomes]
rs61885250	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61885251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886480	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61886482	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61886483	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886487	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61886489	0.87[AMR][1000 genomes]
rs61886492	0.82[AFR][1000 genomes]
rs61886493	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61886494	0.87[AMR][1000 genomes]
rs61886495	0.87[AMR][1000 genomes]
rs61886498	0.87[AMR][1000 genomes]
rs61886507	0.87[AMR][1000 genomes]
rs61886509	0.87[AMR][1000 genomes]
rs61886511	0.87[AMR][1000 genomes]
rs61886512	0.87[AMR][1000 genomes]
rs61886517	0.87[AMR][1000 genomes]
rs61886529	0.87[AMR][1000 genomes]
rs61886530	0.87[AMR][1000 genomes]
rs61886531	0.87[AMR][1000 genomes]
rs61886532	0.87[AMR][1000 genomes]
rs6485967	0.87[AMR][1000 genomes]
rs7106778	0.87[AMR][1000 genomes]
rs7113939	0.87[AMR][1000 genomes]
rs7116845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7119205	0.87[AMR][1000 genomes]
rs7120140	0.87[AMR][1000 genomes]
rs7122398	0.87[AMR][1000 genomes]
rs7123690	0.87[AMR][1000 genomes]
rs7124497	0.87[AMR][1000 genomes]
rs7126361	0.87[AMR][1000 genomes]
rs7126472	0.87[AMR][1000 genomes]
rs7126892	0.87[AMR][1000 genomes]
rs7925435	0.87[AMR][1000 genomes]
rs7940776	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7940887	0.88[EUR][1000 genomes]
rs7944746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759824	chr11:48303671-49185190	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv1828260	chr11:48735614-49162948	Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv427886	chr11:48850348-49185190	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2758268	chr11:48856977-49185190	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv832145	chr11:49002873-49185190	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1054955	chr11:49007476-49138758	Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv897484	chr11:49042866-49162948	ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv983012	chr11:49088073-49124095	Enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1835275	chr11:49111467-49131149	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv319	chr11:49123918-49144093	Inactive region	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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