Variant report

Variant	rs62011518
Chromosome Location	chr15:78363184-78363185
allele	G/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	CTCF	chr15:78363100-78363250	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:
2	chr15:78354817..78358592-chr15:78361208..78364275,3	MCF-7	breast:
3	chr15:78362119..78363904-chr15:78366538..78368474,2	MCF-7	breast:
4	chr15:78354448..78356062-chr15:78363127..78365544,2	K562	blood:

Variant related genes	Relation type
TBC1D2B	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11630013	1.00[ASN][1000 genomes]
rs11635115	1.00[ASN][1000 genomes]
rs11635268	1.00[ASN][1000 genomes]
rs16969502	1.00[ASN][1000 genomes]
rs17398057	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17399424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057735	1.00[ASN][1000 genomes]
rs4438275	1.00[ASN][1000 genomes]
rs4887008	1.00[ASN][1000 genomes]
rs55829894	1.00[ASN][1000 genomes]
rs55914317	1.00[ASN][1000 genomes]
rs57778149	1.00[ASN][1000 genomes]
rs59075488	1.00[ASN][1000 genomes]
rs60790001	1.00[ASN][1000 genomes]
rs62008166	1.00[ASN][1000 genomes]
rs62008596	1.00[ASN][1000 genomes]
rs62011472	0.87[AMR][1000 genomes]
rs62011475	1.00[ASN][1000 genomes]
rs62011476	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011479	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011482	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011483	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011509	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011510	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011512	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011516	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011521	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163268	1.00[ASN][1000 genomes]
rs7163579	1.00[ASN][1000 genomes]
rs7165474	1.00[ASN][1000 genomes]
rs7182599	1.00[ASN][1000 genomes]
rs7183671	1.00[ASN][1000 genomes]
rs74024166	1.00[ASN][1000 genomes]
rs74024170	1.00[ASN][1000 genomes]
rs8028842	1.00[ASN][1000 genomes]
rs894298	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78347400-78367800	Enhancers	Placenta	Placenta
2	chr15:78354200-78363200	Enhancers	Fetal Intestine Large	intestine
3	chr15:78354200-78363200	Enhancers	Stomach Mucosa	stomach
4	chr15:78354200-78366400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:78354600-78365400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr15:78354600-78366400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78355000-78363200	Enhancers	Brain Substantia Nigra	brain
8	chr15:78355200-78364000	Enhancers	Dnd41	blood
9	chr15:78355600-78365400	Enhancers	Small Intestine	intestine
10	chr15:78355800-78363200	Enhancers	Right Atrium	heart
11	chr15:78355800-78364000	Enhancers	Fetal Muscle Leg	muscle
12	chr15:78356000-78363800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:78357000-78363200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr15:78357400-78364400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:78357400-78365000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr15:78357600-78365200	Enhancers	Lung	lung
17	chr15:78358000-78363400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:78358400-78366000	Enhancers	HepG2	liver
19	chr15:78358600-78363200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:78358600-78363200	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:78358800-78363200	Enhancers	HSMM	muscle
22	chr15:78358800-78367800	Weak transcription	HMEC	breast
23	chr15:78359400-78363200	Enhancers	Left Ventricle	heart
24	chr15:78359600-78363200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:78359600-78363200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:78359800-78363200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:78360000-78363200	Enhancers	K562	blood
28	chr15:78360200-78363800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:78361000-78363200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:78361200-78363200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:78361200-78364400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:78361200-78364600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:78361200-78364600	Enhancers	NHDF-Ad	bronchial
34	chr15:78361200-78364800	Enhancers	Osteobl	bone
35	chr15:78361200-78365200	Weak transcription	Fetal Brain Male	brain
36	chr15:78361400-78363400	Genic enhancers	Fetal Intestine Small	intestine
37	chr15:78361400-78364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:78361400-78364600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:78361400-78364800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:78361400-78364800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:78361400-78367800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:78361400-78368000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:78361400-78368000	Weak transcription	Fetal Heart	heart
44	chr15:78361400-78368200	Weak transcription	Brain Germinal Matrix	brain
45	chr15:78361600-78363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:78361600-78363200	Enhancers	NHLF	lung
47	chr15:78361600-78363600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:78361600-78364000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:78361600-78364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:78361600-78364400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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