Variant report

Variant	rs16956369
Chromosome Location	chr15:72182813-72182814
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	chr15:72173982..72176259-chr15:72181202..72184060,3	K562	blood:
2	chr15:72180763..72183209-chr15:72189285..72191973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10851847	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11633167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634608	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12050794	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12148078	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12439494	0.90[EUR][1000 genomes]
rs12898728	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12898868	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12912771	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13858	0.82[EUR][1000 genomes]
rs1481860	0.83[EUR][1000 genomes]
rs1481861	0.83[EUR][1000 genomes]
rs1481862	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2128112	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278987	0.85[EUR][1000 genomes]
rs2306489	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2306576	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2415120	0.91[EUR][1000 genomes]
rs2415121	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2415126	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2415128	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28650442	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28717020	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2899775	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899776	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929508	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2929509	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2929510	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2929511	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929513	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929517	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2929525	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929526	0.86[EUR][1000 genomes]
rs2929527	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929528	0.83[EUR][1000 genomes]
rs2929532	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2930069	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957361	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957365	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957368	0.82[EUR][1000 genomes]
rs2957373	0.80[EUR][1000 genomes]
rs2957724	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957725	0.83[EUR][1000 genomes]
rs2957728	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957734	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957735	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957736	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957737	0.83[EUR][1000 genomes]
rs2957740	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957742	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957745	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957746	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957750	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759820	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3784310	0.86[AMR][1000 genomes]
rs3784313	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4454922	0.80[EUR][1000 genomes]
rs4511483	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4526973	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777466	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62023343	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6494973	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6494975	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494992	0.83[EUR][1000 genomes]
rs7162299	0.84[EUR][1000 genomes]
rs7164780	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7173626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7175373	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7177242	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7183055	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7183748	0.86[EUR][1000 genomes]
rs7403191	0.86[EUR][1000 genomes]
rs7496582	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7497104	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8027164	0.85[EUR][1000 genomes]
rs8028115	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8030815	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8036307	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8037381	0.81[EUR][1000 genomes]
rs8040216	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8178	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9302260	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs982752	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	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
9	nsv569907	chr15:72154000-72215065	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv569908	chr15:72154000-72218036	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	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
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16956369	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
3	chr15:72122400-72195000	Weak transcription	NHEK	skin
4	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
5	chr15:72122600-72195800	Weak transcription	Gastric	stomach
6	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:72142600-72183400	Weak transcription	Brain Angular Gyrus	brain
8	chr15:72142600-72189600	Weak transcription	NHLF	lung
9	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
10	chr15:72142800-72184800	Weak transcription	A549	lung
11	chr15:72142800-72190200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:72143000-72190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:72143000-72190600	Weak transcription	Colonic Mucosa	Colon
14	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:72145400-72190600	Weak transcription	Spleen	Spleen
16	chr15:72145600-72184800	Weak transcription	Lung	lung
17	chr15:72149200-72186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:72153200-72189600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
20	chr15:72162600-72187600	Strong transcription	Placenta	Placenta
21	chr15:72164000-72190600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:72164000-72190600	Weak transcription	Aorta	Aorta
23	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:72165400-72190800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:72167000-72197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:72168800-72190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:72170200-72194000	Weak transcription	Fetal Intestine Small	intestine
28	chr15:72171200-72192600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:72172400-72192000	Weak transcription	Thymus	Thymus
30	chr15:72172600-72185200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:72172600-72190200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:72172800-72183000	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:72172800-72186000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:72172800-72190000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:72172800-72190800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:72172800-72190800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:72173000-72183000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:72173000-72184800	Weak transcription	Primary T cells from cord blood	blood
39	chr15:72173000-72190000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:72173000-72200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:72173200-72190000	Weak transcription	HUVEC	blood vessel
42	chr15:72173200-72190600	Weak transcription	Dnd41	blood
43	chr15:72174800-72189800	Weak transcription	Fetal Brain Male	brain
44	chr15:72175200-72184600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:72175400-72185200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:72175400-72185400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:72175600-72185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:72175600-72185200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:72175600-72190200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:72175600-72190200	Weak transcription	Placenta Amnion	Placenta Amnion

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