Variant report

Variant	rs57927355
Chromosome Location	chr1:120077044-120077045
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:1)
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	chr1:120076995-120077045	HepG2	liver:	n/a
2	chr1:120076995-120077045	HEK293	kidney:	embryo
3	chr1:120076995-120077045	ovcar-3	ovarian:	n/a
4	chr1:120076995-120077045	ECC-1	luminal epithelium:	n/a
5	chr1:120076995-120077045	HRE	kidney:	n/a
6	chr1:120076995-120077045	SK-N-SH	brain:	n/a
7	chr1:120076995-120077045	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:120076995-120077045	PrEC	prostate:	n/a
9	chr1:120076995-120077045	A549	lung:	n/a
10	chr1:120076995-120077045	HCF	heart:	n/a
11	chr1:120076995-120077045	HCPEpiC	choroid plexus:	n/a
12	chr1:120076995-120077045	PFSK-1	brain:	n/a
13	chr1:120076995-120077045	HEEpiC	esophagus:	n/a
14	chr1:120076995-120077045	NH-A	brain:	n/a
15	chr1:120076995-120077045	HAEpiC	amniotic membrane:	n/a
16	chr1:120076995-120077045	GM19239	blood:	n/a
17	chr1:120076995-120077045	H1-hESC	embryonic stem cell:	embryo
18	chr1:120076995-120077045	NB4	blood:	n/a
19	chr1:120076995-120077045	ProgFib	skin:	n/a
20	chr1:120076995-120077045	MCF10A-Er-Src	breast:	n/a
21	chr1:120076995-120077045	AG04450	lung:	fetal
22	chr1:120076995-120077045	BE2_C	brain:	n/a
23	chr1:120076995-120077045	GM12878	blood:	n/a
24	chr1:120076995-120077045	AG09319	gingival:	n/a
25	chr1:120076995-120077045	NHBE	bronchial:	n/a
26	chr1:120076995-120077045	AG09309	skin:	n/a
27	chr1:120076995-120077045	T-47D	breast:	n/a
28	chr1:120076995-120077045	Jurkat	blood:	n/a
29	chr1:120076995-120077045	HCT-116	colon:	n/a
30	chr1:120076995-120077045	HCM	heart:	n/a
31	chr1:120076995-120077045	MCF-7	breast:	n/a
32	chr1:120076995-120077045	Hela-S3	cervix:	n/a
33	chr1:120076995-120077045	SAEC	small airway:	n/a
34	chr1:120076995-120077045	CMK	blood:	n/a
35	chr1:120076995-120077045	AG10803	skin:	n/a
36	chr1:120076995-120077045	SK-N-SH_RA	brain:	n/a
37	chr1:120076995-120077045	HIPEpiC	eye:	n/a
38	chr1:120076995-120077045	GM06990	blood:	n/a
39	chr1:120076995-120077045	NHDF-neo	bronchial:	n/a
40	chr1:120076995-120077045	HNPCEpiC	eye:	n/a
41	chr1:120076995-120077045	SK-N-MC	brain:	n/a
42	chr1:120076995-120077045	RPTEC	kidney:	n/a
43	chr1:120076995-120077045	PANC-1	pancreas:	n/a
44	chr1:120076995-120077045	HUVEC	blood vessel:	n/a
45	chr1:120076995-120077045	Hepatocyte	liver:	n/a
46	chr1:120076995-120077045	LNCaP	prostate:	n/a
47	chr1:120076995-120077045	Caco-2	colon:	n/a
48	chr1:120076995-120077045	GM12891	blood:	n/a
49	chr1:120076995-120077045	IMR90	lung:	fetal
50	chr1:120076995-120077045	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD3B2-1	chr1:120074820-120078855	ENSG00000249401

No data

Variant related genes	Relation type
HSD3BP3	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12059477	1.00[AMR][1000 genomes]
rs17038370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56267533	0.83[AFR][1000 genomes]
rs61628102	1.00[AMR][1000 genomes]
rs6665975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680519	1.00[AMR][1000 genomes]
rs6685889	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114641	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74117420	1.00[AMR][1000 genomes]
rs74117422	1.00[AMR][1000 genomes]
rs7521487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545636	1.00[AMR][1000 genomes]
rs7549017	1.00[AMR][1000 genomes]
rs7554121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs874350	1.00[AMR][1000 genomes]
rs9727644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1006564	chr1:120050603-120078534	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv5682	chr1:120072464-120135533	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120074800-120082400	Weak transcription	Placenta	Placenta
2	chr1:120074800-120083400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:120076600-120083400	Weak transcription	Ovary	ovary
4	chr1:120077000-120080600	Weak transcription	Liver	Liver

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