Variant report

Variant	rs12916694
Chromosome Location	chr15:72298140-72298141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72297045..72298608-chr15:72298736..72301156,2	MCF-7	breast:
2	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
3	chr15:72296226..72298848-chr15:72307966..72310000,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10518979	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074330	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072338	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072339	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072346	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852789	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11853268	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050895	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12439900	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591426	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592044	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12592364	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593908	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595228	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12595464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899485	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12901580	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901886	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902661	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12903484	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12903980	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12906711	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12908300	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12908882	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12911154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913042	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12914070	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916951	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12917428	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1384007	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481860	0.86[EUR][1000 genomes]
rs1481861	0.85[EUR][1000 genomes]
rs16953769	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16956241	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16956302	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16956328	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16956381	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16956444	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16956452	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956634	0.81[EUR][1000 genomes]
rs2035379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054601	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279283	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306490	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415130	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2607090	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2625530	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2742323	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2899773	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2929528	0.85[EUR][1000 genomes]
rs2957368	0.84[EUR][1000 genomes]
rs2957373	0.83[EUR][1000 genomes]
rs2957725	0.86[EUR][1000 genomes]
rs2957737	0.86[EUR][1000 genomes]
rs34085279	0.88[ASN][1000 genomes]
rs34137768	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34189331	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34487006	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34514871	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35021156	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35112434	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35115747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35167572	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35186252	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35206011	0.81[EUR][1000 genomes]
rs35258998	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35673773	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35713471	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743224	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131630	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238447	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4238449	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411469	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4445848	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776579	0.87[EUR][1000 genomes]
rs4776581	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776584	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776586	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777464	0.87[EUR][1000 genomes]
rs4777467	0.84[EUR][1000 genomes]
rs4777469	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4777471	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777474	0.92[ASN][1000 genomes]
rs4777477	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777478	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777480	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4777484	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777485	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4777489	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55854204	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60921026	0.87[ASN][1000 genomes]
rs62023342	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62025574	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6494990	0.80[EUR][1000 genomes]
rs71395051	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7170461	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7170754	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7172309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7177242	0.81[EUR][1000 genomes]
rs7182776	0.86[ASN][1000 genomes]
rs7183748	0.81[EUR][1000 genomes]
rs7183749	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7403191	0.81[EUR][1000 genomes]
rs8025504	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028532	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032038	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8182011	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8192364	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8192386	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8192431	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9120	0.80[EUR][1000 genomes]
rs972028	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs972029	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv457199	chr15:72261385-72302667	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv569913	chr15:72261385-72302667	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv457200	chr15:72261385-72325595	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv569914	chr15:72261385-72325595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	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
15	nsv569915	chr15:72267164-72307691	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv569916	chr15:72268986-72325595	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv457201	chr15:72284647-72329906	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv569917	chr15:72284647-72329906	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12916694	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
2	chr15:72225000-72305600	Weak transcription	Gastric	stomach
3	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
5	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:72260400-72301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:72261000-72326200	Weak transcription	NH-A	brain
8	chr15:72263600-72300400	Weak transcription	NHLF	lung
9	chr15:72264000-72301800	Weak transcription	Colonic Mucosa	Colon
10	chr15:72266000-72299000	Weak transcription	Fetal Kidney	kidney
11	chr15:72266400-72323000	Weak transcription	Lung	lung
12	chr15:72266600-72315000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:72266800-72300400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:72267600-72298400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:72268400-72302000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:72268600-72298400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:72268600-72299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:72268600-72308200	Weak transcription	Right Ventricle	heart
19	chr15:72268600-72313200	Weak transcription	HMEC	breast
20	chr15:72272000-72323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:72277200-72325800	Weak transcription	Fetal Heart	heart
22	chr15:72280200-72338800	Weak transcription	Hela-S3	cervix
23	chr15:72280400-72303800	Weak transcription	GM12878-XiMat	blood
24	chr15:72280800-72318200	Weak transcription	Pancreas	Pancrea
25	chr15:72281400-72299000	Weak transcription	Dnd41	blood
26	chr15:72282000-72301600	Weak transcription	A549	lung
27	chr15:72282000-72311200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:72282000-72341800	Weak transcription	Brain Angular Gyrus	brain
29	chr15:72282200-72299000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:72282200-72314200	Weak transcription	NHEK	skin
31	chr15:72282200-72337800	Weak transcription	Esophagus	oesophagus
32	chr15:72282200-72338800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:72282400-72298400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:72282400-72298400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:72282400-72325800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:72282400-72326200	Weak transcription	Fetal Brain Female	brain
37	chr15:72282400-72329000	Weak transcription	Brain Germinal Matrix	brain
38	chr15:72282600-72299000	Weak transcription	Brain Substantia Nigra	brain
39	chr15:72282600-72315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:72282600-72332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:72282800-72298400	Weak transcription	Ovary	ovary
42	chr15:72282800-72298600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:72282800-72323000	Weak transcription	Thymus	Thymus
44	chr15:72282800-72325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:72282800-72347000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:72282800-72349800	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:72283000-72305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:72283000-72309400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:72283600-72329600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:72284200-72326400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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