Variant report

Variant	rs1256434
Chromosome Location	chr15:83550040-83550041
allele	C/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	chr15:83550002..83552945-chr15:83556510..83558401,2	MCF-7	breast:
2	chr15:83548836..83552018-chr15:83556203..83558359,3	K562	blood:
3	chr15:83543732..83546327-chr15:83548068..83551024,3	K562	blood:
4	chr15:83545265..83547067-chr15:83547824..83550376,2	MCF-7	breast:
5	chr15:83521559..83523474-chr15:83548872..83551411,2	MCF-7	breast:
6	chr15:83548774..83553055-chr15:83557279..83560019,6	K562	blood:
7	chr15:83548573..83551400-chr15:83560401..83562858,2	MCF-7	breast:
8	chr15:83549718..83551479-chr15:83574830..83576758,2	MCF-7	breast:

No data

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10906985	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11259959	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12385964	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1256429	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1256451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1256452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1256453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256455	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12905235	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13380133	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553883	0.86[JPT][hapmap]
rs17360083	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2379992	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2621227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2621228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667382	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667383	0.99[ASN][1000 genomes]
rs2667385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41310978	0.94[ASN][1000 genomes]
rs4238539	0.88[JPT][hapmap]
rs62011731	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62011732	0.96[ASN][1000 genomes]
rs62011734	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168760	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7169401	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8038679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9806543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1256434	WHAMM	cis	Adipose Subcutaneous	GTEx
rs1256434	HOMER2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83520000-83563800	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83523600-83558000	Weak transcription	Esophagus	oesophagus
3	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
4	chr15:83524800-83563800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:83537000-83551400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:83540600-83573200	Weak transcription	Right Atrium	heart
7	chr15:83540800-83563600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:83541000-83566200	Weak transcription	Spleen	Spleen
9	chr15:83542400-83551000	Weak transcription	Right Ventricle	heart
10	chr15:83542400-83564000	Weak transcription	Lung	lung
11	chr15:83542400-83567200	Weak transcription	Brain Angular Gyrus	brain
12	chr15:83542800-83558000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:83543000-83557600	Weak transcription	Fetal Stomach	stomach
14	chr15:83543600-83557800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:83543600-83558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:83543600-83567600	Weak transcription	Aorta	Aorta
17	chr15:83544000-83550800	Weak transcription	Gastric	stomach
18	chr15:83544000-83551000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:83544000-83558000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:83544000-83558000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:83544000-83563800	Weak transcription	Brain Anterior Caudate	brain
22	chr15:83544200-83557800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:83544200-83560800	Weak transcription	Primary T cells from cord blood	blood
24	chr15:83544400-83551000	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:83544600-83550400	Weak transcription	HSMMtube	muscle
26	chr15:83544800-83559400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:83545000-83551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:83549000-83550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:83549000-83550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:83549000-83551600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr15:83549200-83551400	Strong transcription	Liver	Liver
32	chr15:83549200-83551600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:83549600-83550200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr15:83549800-83550600	Weak transcription	Pancreas	Pancrea
35	chr15:83549800-83550800	Weak transcription	Psoas Muscle	Psoas

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