Variant report

Variant	rs62441368
Chromosome Location	chr7:2746022-2746023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2744927..2748584-chr7:2749019..2753135,4	MCF-7	breast:
2	chr7:2745119..2746769-chr7:2746943..2749015,2	MCF-7	breast:
3	chr7:2745102..2748560-chr7:2749032..2751394,3	MCF-7	breast:
4	chr7:2738008..2742059-chr7:2743090..2747120,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10229817	0.90[ASN][1000 genomes]
rs12530852	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533534	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13235873	0.93[ASN][1000 genomes]
rs58726146	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58748470	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59438885	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60925902	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61128220	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518027	chr7:2643607-2753667	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1015695	chr7:2654768-2754025	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538651	chr7:2654768-2754025	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv605865	chr7:2662818-2748487	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv605869	chr7:2672972-2752487	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
8	nsv887312	chr7:2707822-2763102	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62441368	GNA12	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2729400-2749000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:2735000-2747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:2740600-2747000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:2741400-2749000	Weak transcription	Fetal Brain Female	brain
5	chr7:2741600-2749200	Weak transcription	Right Atrium	heart
6	chr7:2741800-2746400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:2741800-2753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:2742000-2751800	Weak transcription	NHLF	lung
9	chr7:2742200-2749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:2742200-2765600	Weak transcription	HSMM	muscle
11	chr7:2742600-2748000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:2742600-2748200	Weak transcription	Gastric	stomach
13	chr7:2742600-2749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:2742600-2749600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:2742800-2746200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:2742800-2746400	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:2743200-2746200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:2743200-2746200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:2745000-2749600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:2745600-2746200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:2745600-2747000	Weak transcription	Spleen	Spleen
22	chr7:2745800-2749200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:2745800-2749600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:2746000-2747400	Enhancers	Brain Germinal Matrix	brain
25	chr7:2746000-2747600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:2746000-2750800	Enhancers	Placenta	Placenta

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