Variant report

Variant	rs8034213
Chromosome Location	chr15:55780218-55780219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11071183	1.00[CEU][hapmap]
rs11629771	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11629841	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11854672	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11854716	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11854851	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11855391	0.85[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap]
rs11857139	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap]
rs11858302	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17819096	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs17819108	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap]
rs2447711	0.81[ASN][1000 genomes]
rs2927575	0.81[AMR][1000 genomes]
rs4380011	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap]
rs55670124	0.87[EUR][1000 genomes]
rs57411546	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59528426	0.84[EUR][1000 genomes]
rs622097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs627597	0.84[EUR][1000 genomes]
rs6493787	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap]
rs657217	0.87[AMR][1000 genomes]
rs66519356	0.84[AMR][1000 genomes]
rs692646	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs692690	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7167170	0.85[CEU][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs8029564	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8037376	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8043049	0.85[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][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	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS 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
10	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
11	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
12	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS 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
13	nsv833016	chr15:55749169-55897906	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers 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
rs8034213	BCL2L10	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55756200-55790000	Weak transcription	Fetal Kidney	kidney
2	chr15:55768400-55782800	Weak transcription	Brain Anterior Caudate	brain
3	chr15:55771400-55790000	Weak transcription	HSMM	muscle
4	chr15:55771600-55790000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:55772200-55790000	Weak transcription	Brain Angular Gyrus	brain
6	chr15:55772800-55789800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:55773800-55790200	Weak transcription	Pancreas	Pancrea
8	chr15:55774000-55790000	Weak transcription	Fetal Heart	heart
9	chr15:55774200-55781200	Weak transcription	Osteobl	bone
10	chr15:55774200-55790200	Weak transcription	Lung	lung
11	chr15:55774400-55781200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:55774400-55789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:55774400-55790000	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:55774400-55790200	Weak transcription	Gastric	stomach
15	chr15:55774600-55789800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:55774800-55789600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:55774800-55789600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:55775000-55789600	Weak transcription	Fetal Brain Male	brain
19	chr15:55775200-55789800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:55775200-55789800	Weak transcription	Brain Germinal Matrix	brain
21	chr15:55775200-55789800	Weak transcription	Fetal Lung	lung
22	chr15:55776200-55781000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:55777400-55781000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:55778200-55780400	Strong transcription	Ovary	ovary
25	chr15:55778400-55781200	Weak transcription	HUVEC	blood vessel
26	chr15:55778600-55781000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:55778600-55781600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:55778800-55780400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr15:55778800-55780600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:55778800-55781200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:55779000-55781400	Weak transcription	A549	lung
32	chr15:55779200-55781400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:55779400-55780400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:55779400-55780600	ZNF genes & repeats	Fetal Brain Female	brain
35	chr15:55779400-55780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:55779600-55789400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:55779600-55789800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:55779600-55789800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:55779600-55790000	Weak transcription	Adipose Nuclei	Adipose
40	chr15:55779600-55790000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:55779800-55780800	Weak transcription	Fetal Stomach	stomach
42	chr15:55779800-55786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:55779800-55789800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:55779800-55790200	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:55780000-55780400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:55780000-55781200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:55780000-55781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:55780000-55784600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:55780000-55786800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:55780000-55789600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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