Variant report

Variant	rs13379893
Chromosome Location	chr15:42646914-42646915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42646825-42648360	K562	blood:	n/a	n/a

Variant related genes	Relation type
CAPN3	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10438262	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10438301	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12324373	1.00[AMR][1000 genomes]
rs13380340	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13380403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056186	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2412708	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412710	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs28364350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364394	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364404	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364417	1.00[ASW][hapmap]
rs28364474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364494	1.00[AMR][1000 genomes]
rs28537979	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28576515	1.00[AMR][1000 genomes]
rs62642519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359222	1.00[AMR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13379893	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42603400-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:42603400-42648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
5	chr15:42619600-42647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:42619600-42656200	Weak transcription	HMEC	breast
7	chr15:42627600-42654600	Weak transcription	HSMM	muscle
8	chr15:42630600-42650600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:42631600-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:42631600-42649800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:42631800-42649400	Weak transcription	Fetal Brain Male	brain
12	chr15:42631800-42651000	Weak transcription	Fetal Heart	heart
13	chr15:42632200-42652600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr15:42634600-42648000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:42634600-42648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:42634600-42650400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr15:42636400-42647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
20	chr15:42637600-42647000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:42638400-42651800	Weak transcription	Psoas Muscle	Psoas
22	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
23	chr15:42639800-42652200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:42640200-42649800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr15:42641400-42657400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:42641800-42648600	Weak transcription	NH-A	brain
27	chr15:42641800-42649600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:42641800-42652800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:42642400-42655400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:42642600-42648200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:42643000-42650400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:42643000-42650800	Strong transcription	Adipose Nuclei	Adipose
33	chr15:42643000-42654800	Strong transcription	Liver	Liver
34	chr15:42643200-42647400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr15:42643200-42647400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:42643200-42647600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr15:42643200-42647800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:42643200-42647800	Strong transcription	Lung	lung
39	chr15:42643200-42650800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:42643400-42647200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:42643400-42647200	Strong transcription	Brain Angular Gyrus	brain
42	chr15:42643400-42647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:42643400-42647800	Strong transcription	Ovary	ovary
44	chr15:42643400-42649400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:42643400-42649400	Strong transcription	Fetal Intestine Large	intestine
46	chr15:42643400-42649600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:42643400-42649600	Strong transcription	Primary B cells from cord blood	blood
48	chr15:42643400-42649800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:42643400-42649800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:42644400-42648800	Weak transcription	HSMMtube	muscle

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