Variant report

Variant	rs7566619
Chromosome Location	chr2:189199195-189199196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
2	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10169317	0.81[ASN][1000 genomes]
rs10170220	0.81[CHD][hapmap]
rs10174928	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs10175259	0.85[ASN][1000 genomes]
rs10180222	0.90[ASN][1000 genomes]
rs10180687	0.84[ASN][1000 genomes]
rs10193506	0.85[CEU][hapmap];0.84[MEX][hapmap]
rs10197499	0.80[EUR][1000 genomes]
rs10199112	0.81[ASN][1000 genomes]
rs10199264	0.81[ASN][1000 genomes]
rs10206696	0.81[ASN][1000 genomes]
rs10210696	0.84[ASN][1000 genomes]
rs10211189	0.81[CHD][hapmap]
rs10804020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931346	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931355	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs10931356	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931359	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1125099	0.81[CHD][hapmap]
rs12329399	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs12465164	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12465625	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469904	0.87[EUR][1000 genomes]
rs12473653	0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473872	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs12474692	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12611919	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12613615	0.88[ASN][1000 genomes]
rs12619361	0.90[ASN][1000 genomes]
rs12624002	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693489	0.88[ASN][1000 genomes]
rs12987194	0.88[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs13008931	1.00[CEU][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13014693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022513	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13388723	0.81[ASN][1000 genomes]
rs13388746	0.80[CHB][hapmap]
rs13389155	0.81[JPT][hapmap]
rs13412312	0.81[ASN][1000 genomes]
rs13420369	0.81[ASN][1000 genomes]
rs13424536	0.81[JPT][hapmap]
rs34189381	0.92[ASN][1000 genomes]
rs34445909	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34778517	0.80[EUR][1000 genomes]
rs35180255	0.85[EUR][1000 genomes]
rs35365782	0.90[EUR][1000 genomes]
rs35964306	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890574	0.81[CHD][hapmap]
rs4261684	0.84[ASN][1000 genomes]
rs4274570	0.80[JPT][hapmap];0.82[YRI][hapmap]
rs4294965	0.81[EUR][1000 genomes]
rs4340469	0.81[CHD][hapmap];0.82[YRI][hapmap]
rs4361092	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4381753	0.86[EUR][1000 genomes]
rs4396679	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4398237	0.81[JPT][hapmap]
rs4402719	0.90[ASN][1000 genomes]
rs4402720	0.82[EUR][1000 genomes]
rs4413123	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4426503	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4430902	0.88[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4433962	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4458180	0.84[CHD][hapmap]
rs4513258	0.81[JPT][hapmap]
rs4516391	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4522565	0.80[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4564741	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4591312	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4599076	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4610010	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4640356	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4666758	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs4666759	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667215	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667221	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667222	0.80[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs4667227	0.81[CHD][hapmap];0.82[YRI][hapmap]
rs4992744	0.88[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs59106803	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183206	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183212	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62183213	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434269	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6704814	0.84[CHD][hapmap]
rs67092191	0.81[ASN][1000 genomes]
rs6711822	0.82[ASN][1000 genomes]
rs6712056	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718999	0.81[ASN][1000 genomes]
rs67211370	0.80[ASN][1000 genomes]
rs67240894	0.82[ASN][1000 genomes]
rs6724428	0.87[ASW][hapmap];0.81[CEU][hapmap]
rs6724636	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6724867	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729182	0.81[JPT][hapmap]
rs6739162	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6743636	0.81[CHD][hapmap]
rs6744629	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753371	0.96[CEU][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6759539	0.81[ASN][1000 genomes]
rs6759766	0.81[ASN][1000 genomes]
rs67790470	0.80[ASN][1000 genomes]
rs67798410	0.81[ASN][1000 genomes]
rs67919447	0.81[ASN][1000 genomes]
rs72907672	0.81[ASN][1000 genomes]
rs7420700	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs7425596	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574262	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs7582137	0.81[ASN][1000 genomes]
rs7585703	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7586390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593215	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs7593546	0.80[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7595377	0.81[CHD][hapmap];0.82[YRI][hapmap]
rs7598279	0.91[ASN][1000 genomes]
rs7599516	0.90[ASN][1000 genomes]
rs7606178	0.86[YRI][hapmap]
rs893745	0.82[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv524228	chr2:189194029-189199195	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7566619	GULP1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
6	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
7	chr2:189194600-189218200	Weak transcription	Gastric	stomach
8	chr2:189195400-189200800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189196800-189199800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:189197200-189199200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:189197200-189200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:189197200-189200600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:189197200-189200600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:189197400-189200000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:189197400-189200400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:189197600-189199200	Weak transcription	Aorta	Aorta
17	chr2:189197800-189199200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:189198000-189199200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:189198000-189199200	Enhancers	Fetal Heart	heart
20	chr2:189198000-189199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:189198000-189199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:189198000-189202000	Weak transcription	Pancreas	Pancrea
23	chr2:189198400-189199400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:189198400-189199400	Enhancers	Fetal Lung	lung
25	chr2:189198400-189199400	Enhancers	HUVEC	blood vessel
26	chr2:189198400-189199800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:189198600-189199200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:189198600-189199200	Enhancers	Ovary	ovary
29	chr2:189198600-189199600	Enhancers	Stomach Mucosa	stomach
30	chr2:189198600-189201200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
32	chr2:189198800-189201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:189198800-189204000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:189198800-189205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:189198800-189206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:189199000-189199400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:189199000-189199400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189199000-189199400	Enhancers	Psoas Muscle	Psoas
39	chr2:189199000-189199400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:189199000-189199400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:189199000-189199800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:189199000-189200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon

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