Variant report

Variant	rs4294965
Chromosome Location	chr2:189173347-189173348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189155646..189158219-chr2:189172760..189175467,2	MCF-7	breast:
2	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10193506	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10197499	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10197505	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10804020	0.81[EUR][1000 genomes]
rs10931346	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11687248	0.88[ASN][1000 genomes]
rs12469904	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13008931	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13014693	0.81[EUR][1000 genomes]
rs13022513	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34445909	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35964306	0.81[EUR][1000 genomes]
rs4396679	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4402720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4413123	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4426503	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4516391	0.82[EUR][1000 genomes]
rs4591312	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4599076	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4610010	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4667215	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6712056	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6724636	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6744629	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6753371	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7425596	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7564706	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7566619	0.81[EUR][1000 genomes]
rs7586390	0.81[EUR][1000 genomes]
rs7593546	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4294965	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
2	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
3	chr2:189168200-189183200	Weak transcription	Ovary	ovary
4	chr2:189168800-189183200	Weak transcription	A549	lung
5	chr2:189169000-189173600	Enhancers	HUVEC	blood vessel
6	chr2:189169400-189173600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:189169400-189173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:189169400-189187200	Weak transcription	NHLF	lung
9	chr2:189169600-189173400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:189170400-189177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:189170600-189183200	Weak transcription	Gastric	stomach
13	chr2:189171400-189173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:189171600-189176400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:189171600-189179200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:189171600-189179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:189172200-189173400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:189172400-189173400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:189172400-189173800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:189172600-189173600	Enhancers	Colon Smooth Muscle	Colon
21	chr2:189172600-189179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:189172800-189173400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
24	chr2:189173000-189174600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:189173000-189175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:189173200-189173400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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