Variant report

Variant	rs73554441
Chromosome Location	chr6:133131909-133131910
allele	C/T
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	chr6:133131884-133131934	GM06990	blood:	n/a
2	chr6:133131884-133131934	SKMC	muscle:	n/a
3	chr6:133131884-133131934	SK-N-MC	brain:	n/a
4	chr6:133131884-133131934	MCF10A-Er-Src	breast:	n/a
5	chr6:133131884-133131934	GM19239	blood:	n/a
6	chr6:133131884-133131934	H1-hESC	embryonic stem cell:	embryo
7	chr6:133131884-133131934	GM12891	blood:	n/a
8	chr6:133131884-133131934	Hepatocyte	liver:	n/a
9	chr6:133131884-133131934	Jurkat	blood:	n/a
10	chr6:133131884-133131934	HCF	heart:	n/a
11	chr6:133131884-133131934	SK-N-SH_RA	brain:	n/a
12	chr6:133131884-133131934	NT2-D1	testis:	n/a
13	chr6:133131884-133131934	GM12878	blood:	n/a
14	chr6:133131884-133131934	HL-60	blood:	n/a
15	chr6:133131884-133131934	RPTEC	kidney:	n/a
16	chr6:133131884-133131934	ProgFib	skin:	n/a
17	chr6:133131884-133131934	PrEC	prostate:	n/a
18	chr6:133131884-133131934	HEEpiC	esophagus:	n/a
19	chr6:133131884-133131934	NHBE	bronchial:	n/a
20	chr6:133131884-133131934	PFSK-1	brain:	n/a
21	chr6:133131884-133131934	HUVEC	blood vessel:	n/a
22	chr6:133131884-133131934	AG10803	skin:	n/a
23	chr6:133131884-133131934	U87	brain:	n/a
24	chr6:133131884-133131934	HEK293	kidney:	embryo
25	chr6:133131884-133131934	CMK	blood:	n/a
26	chr6:133131884-133131934	K562	blood:	n/a
27	chr6:133131884-133131934	HRE	kidney:	n/a
28	chr6:133131884-133131934	Hela-S3	cervix:	n/a
29	chr6:133131884-133131934	NH-A	brain:	n/a
30	chr6:133131884-133131934	BE2_C	brain:	n/a
31	chr6:133131884-133131934	HNPCEpiC	eye:	n/a
32	chr6:133131884-133131934	HCPEpiC	choroid plexus:	n/a
33	chr6:133131884-133131934	HMEC	breast:	n/a
34	chr6:133131884-133131934	GM12892	blood:	n/a
35	chr6:133131884-133131934	Caco-2	colon:	n/a
36	chr6:133131884-133131934	NHDF-neo	bronchial:	n/a
37	chr6:133131884-133131934	AG04449	skin:	fetal
38	chr6:133131884-133131934	IMR90	lung:	fetal
39	chr6:133131884-133131934	A549	lung:	n/a
40	chr6:133131884-133131934	BJ	skin:	n/a
41	chr6:133131884-133131934	HAEpiC	amniotic membrane:	n/a
42	chr6:133131884-133131934	HIPEpiC	eye:	n/a
43	chr6:133131884-133131934	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:133131884-133131934	T-47D	breast:	n/a
45	chr6:133131884-133131934	HCT-116	colon:	n/a
46	chr6:133131884-133131934	AoSMC	blood vessel:	n/a
47	chr6:133131884-133131934	ovcar-3	ovarian:	n/a
48	chr6:133131884-133131934	LNCaP	prostate:	n/a
49	chr6:133131884-133131934	HepG2	liver:	n/a
50	chr6:133131884-133131934	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
SNORD101	CpG island
RPS12	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57060973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57685859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59646391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60931106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61228504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554439	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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
2	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:133130000-133133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:133131200-133133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:133131600-133133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:133131800-133133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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