Variant report

Variant	rs2278150
Chromosome Location	chr15:72579370-72579371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72563018..72565780-chr15:72578799..72580848,2	K562	blood:
2	chr15:72523217..72525097-chr15:72577058..72579494,2	K562	blood:
3	chr15:72562719..72568093-chr15:72577087..72580814,5	MCF-7	breast:
4	chr15:72577424..72579912-chr15:72581637..72583573,2	K562	blood:
5	chr15:72521313..72523545-chr15:72578405..72580075,2	MCF-7	breast:
6	chr15:72473291..72475888-chr15:72577722..72579583,2	K562	blood:
7	chr15:72575298..72576860-chr15:72578215..72580118,2	K562	blood:
8	chr15:72521272..72525431-chr15:72575824..72579485,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137817	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11072353	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072355	0.82[JPT][hapmap]
rs11072356	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11629508	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11631113	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635828	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11636289	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11637797	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12440927	0.82[JPT][hapmap]
rs12911449	0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs12914971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12915032	0.92[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs2162235	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288258	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912205	0.86[AMR][1000 genomes]
rs2912226	0.82[AMR][1000 genomes]
rs2912229	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs2959915	0.83[JPT][hapmap]
rs2959938	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087652	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4606667	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4776591	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4777498	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777503	0.93[CHB][hapmap];0.87[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes]
rs55792138	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59353578	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67849115	0.84[ASN][1000 genomes]
rs8026600	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
3	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:72573000-72582600	Weak transcription	Placenta	Placenta
6	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
7	chr15:72573400-72582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:72573800-72595000	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:72573800-72595000	Weak transcription	Brain Substantia Nigra	brain
10	chr15:72573800-72596200	Weak transcription	Liver	Liver
11	chr15:72573800-72597200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:72574400-72595000	Weak transcription	Lung	lung
13	chr15:72574600-72581000	Weak transcription	Fetal Brain Female	brain
14	chr15:72575800-72582600	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr15:72577000-72580800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:72577600-72581000	Strong transcription	Brain Angular Gyrus	brain
17	chr15:72577800-72581600	Strong transcription	Fetal Intestine Small	intestine
18	chr15:72578000-72580000	Weak transcription	Fetal Stomach	stomach
19	chr15:72578000-72581000	Weak transcription	Spleen	Spleen
20	chr15:72578000-72611800	Weak transcription	Ovary	ovary
21	chr15:72578600-72580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:72578600-72580800	Strong transcription	Adipose Nuclei	Adipose
23	chr15:72578800-72580800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:72578800-72581200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr15:72579000-72598200	Weak transcription	Brain Germinal Matrix	brain
26	chr15:72579200-72579600	Strong transcription	Primary T cells from cord blood	blood
27	chr15:72579200-72586400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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