Variant report

Variant	rs72992555
Chromosome Location	chr3:142835844-142835845
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:3)
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	chr3:142835844-142835894	NHDF-neo	bronchial:	n/a
2	chr3:142835844-142835894	NB4	blood:	n/a
3	chr3:142835844-142835894	BE2_C	brain:	n/a
4	chr3:142835844-142835894	RPTEC	kidney:	n/a
5	chr3:142835844-142835894	AG09319	gingival:	n/a
6	chr3:142835844-142835894	Hepatocyte	liver:	n/a
7	chr3:142835844-142835894	GM19239	blood:	n/a
8	chr3:142835844-142835894	HMEC	breast:	n/a
9	chr3:142835844-142835894	IMR90	lung:	fetal
10	chr3:142835844-142835894	MCF-7	breast:	n/a
11	chr3:142835844-142835894	AoSMC	blood vessel:	n/a
12	chr3:142835844-142835894	AG04449	skin:	fetal
13	chr3:142835844-142835894	AG04450	lung:	fetal
14	chr3:142835844-142835894	HCF	heart:	n/a
15	chr3:142835844-142835894	NH-A	brain:	n/a
16	chr3:142835844-142835894	HRPEpiC	eye:	n/a
17	chr3:142835844-142835894	GM06990	blood:	n/a
18	chr3:142835844-142835894	PrEC	prostate:	n/a
19	chr3:142835844-142835894	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:142835844-142835894	ovcar-3	ovarian:	n/a
21	chr3:142835844-142835894	GM12892	blood:	n/a
22	chr3:142835844-142835894	HEEpiC	esophagus:	n/a
23	chr3:142835844-142835894	HCPEpiC	choroid plexus:	n/a
24	chr3:142835844-142835894	Caco-2	colon:	n/a
25	chr3:142835844-142835894	HepG2	liver:	n/a
26	chr3:142835844-142835894	HIPEpiC	eye:	n/a
27	chr3:142835844-142835894	GM12878	blood:	n/a
28	chr3:142835844-142835894	HRCEpiC	kidney:	n/a
29	chr3:142835844-142835894	LNCaP	prostate:	n/a
30	chr3:142835844-142835894	Jurkat	blood:	n/a
31	chr3:142835844-142835894	A549	lung:	n/a
32	chr3:142835844-142835894	HRE	kidney:	n/a
33	chr3:142835844-142835894	HUVEC	blood vessel:	n/a
34	chr3:142835844-142835894	NT2-D1	testis:	n/a
35	chr3:142835844-142835894	AG09309	skin:	n/a
36	chr3:142835844-142835894	SK-N-SH_RA	brain:	n/a
37	chr3:142835844-142835894	ECC-1	luminal epithelium:	n/a
38	chr3:142835844-142835894	SK-N-SH	brain:	n/a
39	chr3:142835844-142835894	HL-60	blood:	n/a
40	chr3:142835844-142835894	GM12891	blood:	n/a
41	chr3:142835844-142835894	PFSK-1	brain:	n/a
42	chr3:142835844-142835894	ProgFib	skin:	n/a
43	chr3:142835844-142835894	HCT-116	colon:	n/a
44	chr3:142835844-142835894	HEK293	kidney:	embryo
45	chr3:142835844-142835894	Hela-S3	cervix:	n/a
46	chr3:142835844-142835894	PANC-1	pancreas:	n/a
47	chr3:142835844-142835894	HCM	heart:	n/a
48	chr3:142835844-142835894	BJ	skin:	n/a
49	chr3:142835844-142835894	HAEpiC	amniotic membrane:	n/a
50	chr3:142835844-142835894	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142835029..142837215-chr3:142844723..142846346,2	MCF-7	breast:
2	chr3:142835479..142837341-chr3:143085961..143087735,2	K562	blood:
3	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:

No data

Variant related genes	Relation type
CHST2	CpG island
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1107771	0.86[EUR][1000 genomes]
rs12107010	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13321817	0.87[EUR][1000 genomes]
rs13322379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13322528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13325630	0.86[EUR][1000 genomes]
rs16852899	0.86[EUR][1000 genomes]
rs3821646	0.86[EUR][1000 genomes]
rs58531834	0.86[EUR][1000 genomes]
rs59540153	0.86[EUR][1000 genomes]
rs6764683	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771415	0.86[EUR][1000 genomes]
rs6782124	0.86[EUR][1000 genomes]
rs6797880	0.86[EUR][1000 genomes]
rs6805721	0.86[EUR][1000 genomes]
rs6806835	0.86[EUR][1000 genomes]
rs72990813	0.86[EUR][1000 genomes]
rs72992541	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7646915	0.86[EUR][1000 genomes]
rs9289653	0.86[EUR][1000 genomes]
rs9808897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9808965	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9839114	0.86[EUR][1000 genomes]
rs9842812	0.86[EUR][1000 genomes]
rs9868064	0.86[EUR][1000 genomes]
rs9871843	0.86[EUR][1000 genomes]
rs9876889	0.86[EUR][1000 genomes]
rs9877143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881229	0.86[EUR][1000 genomes]
rs9881390	0.86[EUR][1000 genomes]
rs9882184	0.86[EUR][1000 genomes]
rs9883936	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9990198	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142831200-142837400	Weak transcription	GM12878-XiMat	blood
2	chr3:142835200-142836800	Enhancers	K562	blood
3	chr3:142835200-142837600	Enhancers	Fetal Thymus	thymus
4	chr3:142835400-142836200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:142835600-142837400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:142835800-142837600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:142835800-142837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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