Variant report

Variant	rs4667221
Chromosome Location	chr2:189206528-189206529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
2	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
3	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10180222	0.83[ASN][1000 genomes]
rs10182377	0.80[ASN][1000 genomes]
rs10185828	0.82[ASN][1000 genomes]
rs10198025	0.80[ASN][1000 genomes]
rs10206167	0.80[ASN][1000 genomes]
rs10209733	0.82[ASN][1000 genomes]
rs10804020	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931356	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931359	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151691	0.82[ASN][1000 genomes]
rs12465164	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465625	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12473653	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12473872	0.85[ASN][1000 genomes]
rs12474692	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12611919	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12613615	0.81[ASN][1000 genomes]
rs12619361	0.83[ASN][1000 genomes]
rs12624002	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12693489	0.81[ASN][1000 genomes]
rs13008931	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13014693	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13387350	0.80[ASN][1000 genomes]
rs13394421	0.80[ASN][1000 genomes]
rs13415123	0.82[ASN][1000 genomes]
rs13422836	0.80[ASN][1000 genomes]
rs13426709	0.80[ASN][1000 genomes]
rs34189381	0.85[ASN][1000 genomes]
rs34778517	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35180255	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35365782	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs35964306	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4381753	0.95[EUR][1000 genomes]
rs4402719	0.83[ASN][1000 genomes]
rs4426503	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4458180	0.83[ASN][1000 genomes]
rs4516391	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4564741	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591312	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4610010	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4666759	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667215	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667222	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56072532	0.80[ASN][1000 genomes]
rs58966470	0.80[ASN][1000 genomes]
rs58978246	0.82[ASN][1000 genomes]
rs59106803	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183206	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183212	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183213	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434269	0.82[ASN][1000 genomes]
rs66923332	0.80[ASN][1000 genomes]
rs67086516	0.82[ASN][1000 genomes]
rs6712056	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6724867	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6737728	0.80[ASN][1000 genomes]
rs6743636	0.80[ASN][1000 genomes]
rs6744629	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7425596	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7566619	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7574262	0.93[ASN][1000 genomes]
rs7579610	0.80[ASN][1000 genomes]
rs7585703	0.83[ASN][1000 genomes]
rs7586390	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593546	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7595377	0.82[ASN][1000 genomes]
rs7598279	0.84[ASN][1000 genomes]
rs7599516	0.83[ASN][1000 genomes]
rs7606178	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4667221	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
3	chr2:189194600-189218200	Weak transcription	Gastric	stomach
4	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
5	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
7	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
8	chr2:189199800-189209000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:189201400-189209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:189205000-189207000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:189205400-189208800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:189205400-189208800	Weak transcription	Fetal Lung	lung
16	chr2:189205600-189209400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:189205600-189210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:189205600-189212000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:189205600-189215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:189205600-189227400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:189205800-189208000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:189205800-189209000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:189205800-189211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:189206000-189209400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:189206000-189220400	Weak transcription	Fetal Stomach	stomach
26	chr2:189206200-189208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:189206200-189208800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:189206200-189210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:189206200-189218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:189206400-189218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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