Variant report

Variant	rs2233382
Chromosome Location	chr2:233897161-233897162
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	chr2:233897149-233897199	AG10803	skin:	n/a
2	chr2:233897149-233897199	ProgFib	skin:	n/a
3	chr2:233897149-233897199	HMEC	breast:	n/a
4	chr2:233897149-233897199	HCF	heart:	n/a
5	chr2:233897149-233897199	Hepatocyte	liver:	n/a
6	chr2:233897149-233897199	SK-N-MC	brain:	n/a
7	chr2:233897149-233897199	HRE	kidney:	n/a
8	chr2:233897149-233897199	SK-N-SH	brain:	n/a
9	chr2:233897149-233897199	AG04449	skin:	fetal
10	chr2:233897149-233897199	AG09319	gingival:	n/a
11	chr2:233897149-233897199	HIPEpiC	eye:	n/a
12	chr2:233897149-233897199	SKMC	muscle:	n/a
13	chr2:233897149-233897199	T-47D	breast:	n/a
14	chr2:233897149-233897199	AG09309	skin:	n/a
15	chr2:233897149-233897199	GM19239	blood:	n/a
16	chr2:233897149-233897199	RPTEC	kidney:	n/a
17	chr2:233897149-233897199	NHBE	bronchial:	n/a
18	chr2:233897149-233897199	HAEpiC	amniotic membrane:	n/a
19	chr2:233897149-233897199	U87	brain:	n/a
20	chr2:233897149-233897199	A549	lung:	n/a
21	chr2:233897149-233897199	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:233897149-233897199	HCM	heart:	n/a
23	chr2:233897149-233897199	MCF-7	breast:	n/a
24	chr2:233897149-233897199	GM12878	blood:	n/a
25	chr2:233897149-233897199	CMK	blood:	n/a
26	chr2:233897149-233897199	GM12891	blood:	n/a
27	chr2:233897149-233897199	HEK293	kidney:	embryo
28	chr2:233897149-233897199	HRCEpiC	kidney:	n/a
29	chr2:233897149-233897199	NT2-D1	testis:	n/a
30	chr2:233897149-233897199	MCF10A-Er-Src	breast:	n/a
31	chr2:233897149-233897199	Caco-2	colon:	n/a
32	chr2:233897149-233897199	K562	blood:	n/a
33	chr2:233897149-233897199	NHDF-neo	bronchial:	n/a
34	chr2:233897149-233897199	H1-hESC	embryonic stem cell:	embryo
35	chr2:233897149-233897199	HNPCEpiC	eye:	n/a
36	chr2:233897149-233897199	HCPEpiC	choroid plexus:	n/a
37	chr2:233897149-233897199	GM12892	blood:	n/a
38	chr2:233897149-233897199	HUVEC	blood vessel:	n/a
39	chr2:233897149-233897199	HepG2	liver:	n/a
40	chr2:233897149-233897199	Jurkat	blood:	n/a
41	chr2:233897149-233897199	PrEC	prostate:	n/a
42	chr2:233897149-233897199	AoSMC	blood vessel:	n/a
43	chr2:233897149-233897199	ECC-1	luminal epithelium:	n/a
44	chr2:233897149-233897199	HCT-116	colon:	n/a
45	chr2:233897149-233897199	ovcar-3	ovarian:	n/a
46	chr2:233897149-233897199	NB4	blood:	n/a
47	chr2:233897149-233897199	IMR90	lung:	fetal
48	chr2:233897149-233897199	GM06990	blood:	n/a
49	chr2:233897149-233897199	HRPEpiC	eye:	n/a
50	chr2:233897149-233897199	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
NEU2	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10190420	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11681712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683026	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11692562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233375	0.90[CEU][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2233384	0.84[ASN][1000 genomes]
rs2233394	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62191860	0.84[EUR][1000 genomes]
rs9653384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2233382	B3GNT7	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233888400-233900200	Weak transcription	Esophagus	oesophagus
3	chr2:233891600-233898200	Weak transcription	NH-A	brain
4	chr2:233891600-233900200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:233891800-233897200	Weak transcription	HMEC	breast
6	chr2:233892000-233898000	Weak transcription	NHEK	skin
7	chr2:233894200-233897400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:233894800-233898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:233895200-233898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:233896200-233897400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:233896200-233897600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:233896200-233897600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:233896200-233897800	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:233896400-233897200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:233896400-233897400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:233896400-233897400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:233896400-233898600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:233896400-233899000	Enhancers	HSMMtube	muscle
19	chr2:233896600-233897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:233896600-233897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:233896600-233898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:233896800-233897200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:233897000-233899000	Enhancers	Osteobl	bone

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