Variant report

Variant	rs2415121
Chromosome Location	chr15:72134018-72134019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72132772..72134478-chr15:72147156..72150104,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10851847	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11633167	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11634608	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12050794	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439494	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898728	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12898868	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12912771	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1481862	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16956369	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2128112	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2306489	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2306576	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415120	0.90[EUR][1000 genomes]
rs2415126	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415128	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2625529	0.80[EUR][1000 genomes]
rs28650442	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28717020	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2899775	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899776	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2929508	0.84[EUR][1000 genomes]
rs2929509	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929510	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929511	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2929513	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2929517	0.83[EUR][1000 genomes]
rs2929526	0.81[EUR][1000 genomes]
rs2929527	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2929532	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2930069	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2957361	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957365	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2957724	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957728	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957734	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2957735	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2957736	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2957740	0.84[EUR][1000 genomes]
rs2957742	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2957745	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2957750	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3759820	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3784313	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4511483	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4526973	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4777466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62023343	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6494973	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6494975	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7173626	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7175373	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7183055	0.84[AMR][1000 genomes]
rs7183748	0.80[EUR][1000 genomes]
rs7403191	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7496582	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7497104	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8028115	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8036307	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8040216	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8178	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8557	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9302260	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs982752	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2415121	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72116000-72140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:72116000-72142000	Weak transcription	Hela-S3	cervix
5	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
7	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
8	chr15:72119400-72142400	Weak transcription	Fetal Thymus	thymus
9	chr15:72119600-72139000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:72119800-72140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:72119800-72142200	Weak transcription	Spleen	Spleen
12	chr15:72120200-72138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:72120200-72139000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:72120400-72138600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:72120400-72142400	Weak transcription	GM12878-XiMat	blood
16	chr15:72120600-72139800	Weak transcription	HMEC	breast
17	chr15:72120600-72147400	Weak transcription	Small Intestine	intestine
18	chr15:72120800-72142200	Weak transcription	Colonic Mucosa	Colon
19	chr15:72122200-72138400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:72122200-72139000	Weak transcription	Fetal Brain Male	brain
21	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
22	chr15:72122400-72136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:72122400-72136000	Weak transcription	HSMMtube	muscle
24	chr15:72122400-72137200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:72122400-72137400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:72122400-72139200	Weak transcription	Fetal Brain Female	brain
27	chr15:72122400-72140200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:72122400-72141800	Weak transcription	NH-A	brain
29	chr15:72122400-72142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:72122400-72195000	Weak transcription	NHEK	skin
31	chr15:72122600-72134800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:72122600-72135200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:72122600-72135200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:72122600-72135400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:72122600-72135600	Weak transcription	Brain Germinal Matrix	brain
36	chr15:72122600-72136000	Weak transcription	Liver	Liver
37	chr15:72122600-72136800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr15:72122600-72137000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:72122600-72137000	Weak transcription	Fetal Kidney	kidney
40	chr15:72122600-72137800	Weak transcription	Dnd41	blood
41	chr15:72122600-72138000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:72122600-72138200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:72122600-72138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:72122600-72138400	Weak transcription	Ovary	ovary
45	chr15:72122600-72138400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:72122600-72138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:72122600-72139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:72122600-72139000	Weak transcription	Brain Angular Gyrus	brain
49	chr15:72122600-72139600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:72122600-72140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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