Variant report

Variant	rs2930069
Chromosome Location	chr15:72226977-72226978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72225351..72227489-chr15:72231458..72233712,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10851847	0.87[AMR][1000 genomes]
rs11072349	0.83[EUR][1000 genomes]
rs11072350	0.84[EUR][1000 genomes]
rs11630170	0.84[EUR][1000 genomes]
rs11631650	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11633167	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11634608	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11639282	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12050794	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12148078	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12161990	0.81[ASN][1000 genomes]
rs12439494	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12898728	0.83[AMR][1000 genomes]
rs12898868	0.86[AMR][1000 genomes]
rs12912771	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13858	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1481860	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1481861	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1481862	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1552134	0.87[ASN][1000 genomes]
rs16956369	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2128112	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278987	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2306489	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306576	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415120	0.86[EUR][1000 genomes]
rs2415121	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2415126	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415128	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28650442	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28717020	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2899775	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2899776	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929508	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2929509	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929510	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929511	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2929517	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2929525	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929526	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929527	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929528	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2929532	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957361	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957368	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957373	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957724	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957725	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2957728	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957734	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957735	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957736	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957737	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957740	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2957742	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957743	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2957745	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957746	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957750	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759820	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784313	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4454922	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4511483	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4526973	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4777466	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4777485	0.81[EUR][1000 genomes]
rs55679065	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59975112	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62023343	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6494973	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494975	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6494990	0.82[EUR][1000 genomes]
rs6494992	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7162299	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7164780	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170456	0.81[EUR][1000 genomes]
rs7172158	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7173626	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7175197	0.81[EUR][1000 genomes]
rs7175373	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7175792	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7177242	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7183055	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7183748	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7403191	0.82[EUR][1000 genomes]
rs7496582	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7497104	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023788	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8025939	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027164	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028115	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8030815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8032222	0.82[EUR][1000 genomes]
rs8036307	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8037381	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8040216	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8178	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8182011	0.81[EUR][1000 genomes]
rs8557	0.83[AMR][1000 genomes]
rs9302260	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs982752	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2930069	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
2	chr15:72192400-72241200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:72192400-72249400	Weak transcription	NHLF	lung
4	chr15:72193800-72232000	Weak transcription	Fetal Heart	heart
5	chr15:72219200-72232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72219200-72239000	Weak transcription	Aorta	Aorta
7	chr15:72221800-72228200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:72222000-72227000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:72222000-72227800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:72222200-72232400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:72222600-72227400	Weak transcription	Fetal Brain Male	brain
12	chr15:72222600-72228800	Strong transcription	NHDF-Ad	bronchial
13	chr15:72223600-72228400	Strong transcription	Osteobl	bone
14	chr15:72223800-72231000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:72224000-72227600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:72224200-72228600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:72224800-72228800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:72225000-72227200	Strong transcription	Liver	Liver
19	chr15:72225000-72227400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:72225000-72227600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:72225000-72227800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr15:72225000-72227800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:72225000-72227800	Strong transcription	Adipose Nuclei	Adipose
24	chr15:72225000-72228000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:72225000-72228600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:72225000-72228600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:72225000-72229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:72225000-72230200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:72225000-72230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:72225000-72230600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:72225000-72231200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:72225000-72231200	Strong transcription	HSMM	muscle
33	chr15:72225000-72231800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:72225000-72232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:72225000-72232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:72225000-72232600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:72225000-72232600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:72225000-72246000	Weak transcription	Colonic Mucosa	Colon
39	chr15:72225000-72249400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:72225000-72249600	Weak transcription	NH-A	brain
41	chr15:72225000-72255400	Weak transcription	Left Ventricle	heart
42	chr15:72225000-72259800	Weak transcription	Brain Anterior Caudate	brain
43	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
44	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
48	chr15:72225000-72305600	Weak transcription	Gastric	stomach
49	chr15:72225200-72227000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:72225200-72227400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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