Variant report

Variant	rs34445909
Chromosome Location	chr2:189167807-189167808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189154812..189157871-chr2:189165748..189168050,3	MCF-7	breast:
2	chr2:189161236..189163223-chr2:189166744..189169461,3	K562	blood:
3	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:
4	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
5	chr2:189167224..189169277-chr2:189170587..189173046,3	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction
ENSG00000207951	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10193506	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10197499	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10197505	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10804020	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10931346	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931356	0.82[EUR][1000 genomes]
rs10931359	0.81[EUR][1000 genomes]
rs11687248	0.96[ASN][1000 genomes]
rs12465164	0.80[EUR][1000 genomes]
rs12465625	0.80[EUR][1000 genomes]
rs12469904	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473653	0.81[EUR][1000 genomes]
rs12474692	0.81[EUR][1000 genomes]
rs12624002	0.83[EUR][1000 genomes]
rs13008931	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13014693	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13022513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964306	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4294965	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4381753	0.81[EUR][1000 genomes]
rs4396679	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4402720	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4413123	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4426503	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4516391	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4564741	0.83[EUR][1000 genomes]
rs4591312	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4599076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610010	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666759	0.84[EUR][1000 genomes]
rs4667215	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59106803	0.84[EUR][1000 genomes]
rs62183206	0.84[EUR][1000 genomes]
rs62183212	0.81[EUR][1000 genomes]
rs62183213	0.81[EUR][1000 genomes]
rs6712056	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6724636	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724867	0.84[EUR][1000 genomes]
rs6744629	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753371	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425596	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7564706	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7566619	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7586390	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593546	0.89[AMR][1000 genomes];0.91[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
rs34445909	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
4	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:189160200-189168200	Weak transcription	HMEC	breast
7	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
9	chr2:189164000-189169200	Weak transcription	Pancreas	Pancrea
10	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
11	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
12	chr2:189164800-189168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189165400-189168000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:189165600-189170200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:189166000-189168200	Weak transcription	NHEK	skin
17	chr2:189166600-189168000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:189166600-189168000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:189167200-189168600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:189167200-189169200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:189167200-189170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189167200-189171600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:189167400-189168000	Enhancers	Placenta	Placenta
24	chr2:189167400-189168200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:189167400-189168200	Enhancers	HUVEC	blood vessel
26	chr2:189167400-189168400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:189167400-189168400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:189167400-189168600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:189167400-189168600	Enhancers	K562	blood
30	chr2:189167400-189169600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:189167400-189169600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:189167600-189168000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:189167600-189168200	Enhancers	NHDF-Ad	bronchial
35	chr2:189167600-189168400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:189167600-189168800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:189167600-189168800	Enhancers	A549	lung
38	chr2:189167600-189170200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:189167800-189168200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:189167800-189168400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:189167800-189168600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr2:189167800-189169200	Enhancers	Osteobl	bone
43	chr2:189167800-189169400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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