Variant report

Variant	rs12497488
Chromosome Location	chr3:158493651-158493652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158484534..158487516-chr3:158491786..158494617,2	K562	blood:
2	chr3:158491435..158494572-chr3:158494718..158498804,3	K562	blood:
3	chr3:158460803..158463354-chr3:158491708..158495775,3	MCF-7	breast:
4	chr3:158482236..158484522-chr3:158493434..158494936,2	K562	blood:
5	chr3:158362239..158365959-chr3:158492526..158496007,3	K562	blood:

Variant related genes	Relation type
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12489730	0.98[ASN][1000 genomes]
rs12491877	0.98[ASN][1000 genomes]
rs12495962	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430413	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430414	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560417	1.00[ASN][1000 genomes]
rs1560418	1.00[ASN][1000 genomes]
rs16829365	0.87[ASN][1000 genomes]
rs17642769	0.95[ASN][1000 genomes]
rs17643171	0.95[ASN][1000 genomes]
rs17643252	0.97[ASN][1000 genomes]
rs17643483	0.97[ASN][1000 genomes]
rs17643581	0.97[ASN][1000 genomes]
rs17643860	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17643917	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17699478	0.95[ASN][1000 genomes]
rs17699526	0.95[ASN][1000 genomes]
rs17699997	0.97[ASN][1000 genomes]
rs17700122	0.94[ASN][1000 genomes]
rs17700475	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279561	0.95[ASN][1000 genomes]
rs2279562	0.95[ASN][1000 genomes]
rs2307064	0.95[ASN][1000 genomes]
rs2566347	1.00[ASN][1000 genomes]
rs34690420	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863076	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55678388	0.97[ASN][1000 genomes]
rs55705231	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55717824	0.98[ASN][1000 genomes]
rs55776609	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56023805	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56078503	0.98[ASN][1000 genomes]
rs56105525	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152025	0.97[ASN][1000 genomes]
rs56235582	0.98[ASN][1000 genomes]
rs56261306	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56318834	0.97[ASN][1000 genomes]
rs57262841	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59163359	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59173444	0.90[ASN][1000 genomes]
rs60203196	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61138408	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794798	0.97[ASN][1000 genomes]
rs61794799	0.97[ASN][1000 genomes]
rs61794818	0.98[ASN][1000 genomes]
rs61794821	0.98[ASN][1000 genomes]
rs61794822	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794833	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794834	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794835	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61794858	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794859	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796760	0.85[ASN][1000 genomes]
rs61796762	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61796764	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61796766	0.83[ASN][1000 genomes]
rs61796768	0.98[ASN][1000 genomes]
rs61796770	0.98[ASN][1000 genomes]
rs6441221	0.97[ASN][1000 genomes]
rs6761989	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783610	0.97[ASN][1000 genomes]
rs6792908	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158361	0.98[ASN][1000 genomes]
rs7624420	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7624702	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12497488	GFM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158479600-158495600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:158485600-158495800	Enhancers	Fetal Intestine Small	intestine
3	chr3:158486400-158494200	Weak transcription	Gastric	stomach
4	chr3:158486600-158494200	Weak transcription	Pancreas	Pancrea
5	chr3:158486800-158518200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:158487400-158496600	Enhancers	Fetal Lung	lung
7	chr3:158488400-158501000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:158488800-158494400	Weak transcription	Osteobl	bone
9	chr3:158489200-158495000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:158489200-158508800	Weak transcription	Primary T cells from cord blood	blood
11	chr3:158489800-158494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:158489800-158495200	Weak transcription	Colonic Mucosa	Colon
13	chr3:158489800-158495200	Weak transcription	Small Intestine	intestine
14	chr3:158489800-158500600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:158490000-158501000	Weak transcription	Ovary	ovary
16	chr3:158490200-158497800	Weak transcription	Hela-S3	cervix
17	chr3:158490400-158494200	Weak transcription	Right Atrium	heart
18	chr3:158491200-158494400	Weak transcription	Placenta	Placenta
19	chr3:158491400-158493800	Enhancers	Fetal Stomach	stomach
20	chr3:158491400-158494400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:158492000-158496000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:158492200-158495200	Weak transcription	A549	lung
23	chr3:158492200-158510600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:158492400-158495200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:158492800-158494800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:158493000-158495400	Weak transcription	NHLF	lung
27	chr3:158493200-158496000	Enhancers	Fetal Intestine Large	intestine
28	chr3:158493400-158494600	Enhancers	Lung	lung
29	chr3:158493600-158493800	Flanking Active TSS	HepG2	liver
30	chr3:158493600-158494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:158493600-158494400	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:158493600-158494600	Enhancers	Left Ventricle	heart
33	chr3:158493600-158495600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:158493600-158496000	Enhancers	K562	blood

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