Variant report

Variant	rs757790
Chromosome Location	chr7:2848827-2848828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2847142..2848969-chr7:2888487..2890440,2	MCF-7	breast:
2	chr7:2727601..2730936-chr7:2847456..2852448,6	MCF-7	breast:
3	chr7:2829606..2831716-chr7:2848209..2850258,2	MCF-7	breast:
4	chr7:2846081..2849160-chr7:2882142..2884295,3	MCF-7	breast:
5	chr7:2848223..2850269-chr7:2862070..2864443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1182206	0.83[EUR][1000 genomes]
rs2057918	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs208346	0.81[ASN][1000 genomes]
rs208356	0.81[ASN][1000 genomes]
rs2251718	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255541	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255782	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258960	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2266923	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527682	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2527689	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644272	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2644276	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644311	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2693566	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3846992	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs709280	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs709281	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs757789	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs798501	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798504	0.87[EUR][1000 genomes]
rs798505	0.85[EUR][1000 genomes]
rs798509	0.83[ASN][1000 genomes]
rs798515	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798516	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs798517	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798519	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798520	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs798521	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798522	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs798523	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs798524	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798525	0.81[ASN][1000 genomes]
rs798527	0.83[ASN][1000 genomes]
rs798529	0.81[ASN][1000 genomes]
rs798530	0.82[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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs757790	GNA12	cis	Artery Tibial	GTEx
rs757790	GNA12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2837000-2850600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:2839400-2850800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:2841000-2850200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:2842400-2850800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:2842600-2850600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:2842600-2869400	Weak transcription	Primary T cells from cord blood	blood
7	chr7:2842800-2850800	Weak transcription	HMEC	breast
8	chr7:2842800-2851800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:2843000-2860800	Weak transcription	Esophagus	oesophagus
10	chr7:2843200-2849800	Weak transcription	Osteobl	bone
11	chr7:2843200-2850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:2843200-2850600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:2843200-2850800	Weak transcription	Aorta	Aorta
14	chr7:2843200-2855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:2843200-2857400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:2843200-2860800	Weak transcription	HSMMtube	muscle
17	chr7:2843200-2864400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:2843400-2850000	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:2843400-2854400	Weak transcription	Colonic Mucosa	Colon
20	chr7:2843600-2852800	Weak transcription	Dnd41	blood
21	chr7:2843600-2857200	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:2843600-2860600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:2843600-2864400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:2843800-2849200	Weak transcription	HUVEC	blood vessel
25	chr7:2843800-2850000	Weak transcription	NH-A	brain
26	chr7:2843800-2850600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:2843800-2854800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:2844000-2858800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:2844200-2850600	Weak transcription	Psoas Muscle	Psoas
30	chr7:2844200-2853400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:2845000-2853000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:2845800-2862200	Weak transcription	K562	blood
33	chr7:2846600-2849000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:2847400-2849000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:2847400-2849000	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:2847400-2849200	Enhancers	Placenta	Placenta
37	chr7:2847400-2849200	Enhancers	Left Ventricle	heart
38	chr7:2847400-2853200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:2847600-2849000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:2847600-2849000	Genic enhancers	Pancreas	Pancrea
41	chr7:2847600-2850000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:2847800-2849000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:2847800-2849000	Enhancers	Ovary	ovary
44	chr7:2847800-2849000	Enhancers	Right Ventricle	heart
45	chr7:2847800-2849200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:2847800-2858800	Weak transcription	HSMM	muscle
47	chr7:2848000-2849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:2848000-2849200	Enhancers	Adipose Nuclei	Adipose
49	chr7:2848000-2849200	Enhancers	Lung	lung
50	chr7:2848000-2849200	Enhancers	HepG2	liver

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