Variant report

Variant	rs34412930
Chromosome Location	chr15:59502137-59502138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1032178	0.80[EUR][1000 genomes]
rs1032179	0.80[EUR][1000 genomes]
rs1032180	0.82[EUR][1000 genomes]
rs1032182	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11634752	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11638935	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12898305	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12912558	0.80[EUR][1000 genomes]
rs12915115	0.96[EUR][1000 genomes]
rs2129426	0.84[EUR][1000 genomes]
rs35227552	0.80[EUR][1000 genomes]
rs3809530	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3825937	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162863	0.83[EUR][1000 genomes]
rs7173371	0.84[ASN][1000 genomes]
rs7178908	0.96[EUR][1000 genomes]
rs7182279	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999139	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs999140	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv904272	chr15:59500577-59549018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
2	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
3	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:59475200-59503200	Strong transcription	Liver	Liver
5	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:59485600-59505800	Weak transcription	Brain Germinal Matrix	brain
11	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:59487200-59502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
14	chr15:59489600-59503800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:59489800-59512600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
17	chr15:59490200-59502600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:59490200-59510800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:59491600-59503000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr15:59492000-59503600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr15:59492400-59502400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr15:59493000-59503000	Strong transcription	Adipose Nuclei	Adipose
24	chr15:59493000-59503400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:59493000-59506200	Strong transcription	Fetal Intestine Small	intestine
26	chr15:59493000-59512000	Strong transcription	HSMM	muscle
27	chr15:59493000-59513800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:59493200-59502400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:59493200-59502800	Strong transcription	HUVEC	blood vessel
30	chr15:59493200-59513600	Strong transcription	Osteobl	bone
31	chr15:59493200-59513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:59493200-59514400	Strong transcription	HMEC	breast
33	chr15:59493200-59523200	Strong transcription	Hela-S3	cervix
34	chr15:59493400-59502400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:59493400-59502800	Strong transcription	NH-A	brain
36	chr15:59494000-59502800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:59494800-59514200	Strong transcription	A549	lung
38	chr15:59495800-59502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:59496600-59503200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:59496800-59515200	Weak transcription	Spleen	Spleen
41	chr15:59496800-59515600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:59496800-59522000	Strong transcription	NHEK	skin
43	chr15:59497000-59514600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:59497000-59524800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:59497200-59502400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:59497200-59517600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:59498000-59516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:59498800-59502800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr15:59498800-59522000	Strong transcription	GM12878-XiMat	blood
50	chr15:59499200-59512600	Strong transcription	Fetal Intestine Large	intestine

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