Variant report

Variant	rs10851414
Chromosome Location	chr15:43433932-43433933
allele	C/G
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	chr15:43433794-43434222	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43432184-43434240	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:43431725-43434446	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:43432384-43434315	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:43432220-43434196	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:43431787-43434290	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:
2	chr15:43424554..43427279-chr15:43433886..43435896,3	MCF-7	breast:
3	chr15:43425606..43428403-chr15:43431821..43436252,4	K562	blood:
4	chr15:43339146..43340895-chr15:43431393..43434266,2	K562	blood:

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11070389	0.89[ASN][1000 genomes]
rs11070390	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632120	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050604	0.80[ASN][1000 genomes]
rs12442190	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12913112	0.92[ASN][1000 genomes]
rs12913134	0.92[ASN][1000 genomes]
rs1474200	0.91[ASN][1000 genomes]
rs2056346	0.85[ASN][1000 genomes]
rs2139651	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139652	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438149	0.87[AFR][1000 genomes]
rs476342	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489964	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs502157	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs530118	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs531598	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs574531	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs574856	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165861	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7166467	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635327	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426600-43442200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:43426800-43436400	Weak transcription	Primary T cells from cord blood	blood
3	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
4	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
5	chr15:43427000-43440600	Weak transcription	Fetal Heart	heart
6	chr15:43427000-43442200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:43427000-43442200	Weak transcription	NH-A	brain
8	chr15:43427200-43436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:43427200-43436400	Weak transcription	K562	blood
10	chr15:43427600-43434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:43427600-43434400	Strong transcription	Primary B cells from cord blood	blood
12	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
13	chr15:43427800-43434000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43427800-43434600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:43427800-43435000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:43427800-43435600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43427800-43435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:43427800-43448400	Weak transcription	Fetal Kidney	kidney
19	chr15:43428000-43445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:43428200-43434000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:43428200-43434200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:43428400-43434000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:43428400-43434200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr15:43428400-43434200	Strong transcription	Fetal Intestine Large	intestine
25	chr15:43428400-43435200	Strong transcription	Liver	Liver
26	chr15:43428600-43434200	Strong transcription	Adipose Nuclei	Adipose
27	chr15:43428800-43434000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:43428800-43434000	Strong transcription	Placenta	Placenta
29	chr15:43428800-43434200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr15:43429000-43434000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:43429000-43434000	Strong transcription	Brain Hippocampus Middle	brain
32	chr15:43429000-43434000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:43429000-43436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:43429200-43434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:43429200-43434200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:43429200-43435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:43429400-43444400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:43429600-43434000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:43429600-43434000	Strong transcription	Brain Germinal Matrix	brain
40	chr15:43429600-43434400	Strong transcription	Colon Smooth Muscle	Colon
41	chr15:43429800-43435800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:43430400-43436800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:43430400-43441000	Weak transcription	HSMMtube	muscle
44	chr15:43430600-43441200	Weak transcription	Hela-S3	cervix
45	chr15:43430600-43442000	Weak transcription	HMEC	breast
46	chr15:43431000-43442000	Weak transcription	Fetal Thymus	thymus
47	chr15:43431200-43434200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:43431600-43435600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:43432200-43441000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:43432200-43446400	Weak transcription	Small Intestine	intestine

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