Variant report

Variant	rs8029301
Chromosome Location	chr15:59121836-59121837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59113243..59114882-chr15:59120105..59122940,2	K562	blood:
2	chr15:59120343..59122757-chr15:59124220..59126695,3	K562	blood:
3	chr15:59120109..59122005-chr15:59204966..59206971,2	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10518991	0.85[CEU][hapmap]
rs10518992	0.90[CEU][hapmap]
rs11071397	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11071401	0.89[CEU][hapmap]
rs11630160	0.85[CEU][hapmap]
rs11636723	0.85[CEU][hapmap]
rs11637077	0.85[CEU][hapmap]
rs11856640	0.85[CEU][hapmap]
rs11858989	0.85[CEU][hapmap]
rs12437928	0.90[JPT][hapmap]
rs12439231	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12439632	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12441313	0.94[CHB][hapmap]
rs12441912	0.93[CHB][hapmap]
rs12591310	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.92[ASN][1000 genomes]
rs12592332	0.83[GIH][hapmap]
rs12595057	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12595482	0.90[CEU][hapmap]
rs12905110	0.94[CHB][hapmap]
rs12906705	0.81[GIH][hapmap]
rs12906714	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12907237	0.94[CHB][hapmap]
rs12908261	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12912286	0.84[GIH][hapmap]
rs12913383	0.92[GIH][hapmap]
rs12914164	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12914723	0.85[CEU][hapmap]
rs12915713	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426652	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap]
rs1551445	0.89[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.94[ASN][1000 genomes]
rs1678977	0.80[ASN][1000 genomes]
rs16940651	0.81[GIH][hapmap]
rs17236194	0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs17302045	0.85[CEU][hapmap]
rs173214	0.85[CEU][hapmap]
rs2013098	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2052805	0.84[GIH][hapmap]
rs28394222	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28412567	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28455654	0.83[GIH][hapmap]
rs28470867	0.94[ASN][1000 genomes]
rs28510910	0.91[ASN][1000 genomes]
rs28549775	0.82[ASN][1000 genomes]
rs28641638	0.85[CEU][hapmap]
rs28701980	0.86[ASN][1000 genomes]
rs28733370	0.88[ASN][1000 genomes]
rs28793354	0.94[ASN][1000 genomes]
rs28800895	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28876251	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28889637	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34362744	0.80[ASN][1000 genomes]
rs347112	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs431414	0.94[CEU][hapmap]
rs4775095	0.90[JPT][hapmap]
rs481309	0.90[JPT][hapmap]
rs500057	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs501165	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs510759	0.90[JPT][hapmap]
rs556256	0.90[JPT][hapmap]
rs574683	0.90[JPT][hapmap]
rs597112	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs601795	0.90[JPT][hapmap]
rs62002455	0.96[ASN][1000 genomes]
rs62002456	0.95[ASN][1000 genomes]
rs624536	0.80[ASN][1000 genomes]
rs6494030	0.81[GIH][hapmap]
rs6494031	0.84[GIH][hapmap]
rs6494034	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs6494038	0.84[GIH][hapmap]
rs652193	0.90[JPT][hapmap]
rs654857	0.80[ASN][1000 genomes]
rs664936	0.85[JPT][hapmap]
rs677933	0.90[CEU][hapmap]
rs684505	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs688343	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7165019	0.88[ASN][1000 genomes]
rs7165402	0.81[GIH][hapmap]
rs7166325	0.81[GIH][hapmap]
rs7168825	0.88[ASN][1000 genomes]
rs7169205	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.91[ASN][1000 genomes]
rs7169796	0.88[ASN][1000 genomes]
rs7174386	0.81[GIH][hapmap]
rs8025383	0.87[ASN][1000 genomes]
rs8029805	0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs8033691	0.94[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8029301	MYO1E	cis	parietal	SCAN
rs8029301	ONECUT1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59145600	Weak transcription	Gastric	stomach
2	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
3	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
4	chr15:59075000-59139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:59077800-59122000	Weak transcription	Brain Substantia Nigra	brain
6	chr15:59077800-59153600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:59086200-59125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:59086400-59125800	Weak transcription	Right Ventricle	heart
9	chr15:59090200-59156600	Weak transcription	Small Intestine	intestine
10	chr15:59094200-59122800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:59095200-59156800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:59100400-59122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:59100400-59139800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:59102000-59126400	Weak transcription	Stomach Mucosa	stomach
15	chr15:59103200-59135200	Weak transcription	Pancreas	Pancrea
16	chr15:59103600-59148800	Weak transcription	A549	lung
17	chr15:59103800-59122000	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:59103800-59133000	Weak transcription	Spleen	Spleen
19	chr15:59103800-59157000	Weak transcription	Psoas Muscle	Psoas
20	chr15:59104000-59122200	Weak transcription	Brain Angular Gyrus	brain
21	chr15:59104000-59122400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:59104000-59122600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:59104000-59125200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:59104000-59125600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:59104000-59126800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:59104000-59137600	Weak transcription	Liver	Liver
27	chr15:59104000-59139800	Weak transcription	Fetal Lung	lung
28	chr15:59104000-59146600	Weak transcription	NH-A	brain
29	chr15:59104000-59148400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:59104000-59157000	Weak transcription	Esophagus	oesophagus
31	chr15:59104000-59157200	Weak transcription	NHLF	lung
32	chr15:59105000-59139800	Weak transcription	HMEC	breast
33	chr15:59105600-59125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:59106000-59122600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:59106000-59139200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:59106000-59139600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:59106000-59156800	Weak transcription	Lung	lung
38	chr15:59106200-59137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:59106200-59156800	Weak transcription	Ovary	ovary
40	chr15:59106200-59157000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:59106400-59125400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:59106400-59139400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:59106600-59122600	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:59106600-59137600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:59106600-59146400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:59106600-59157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:59106800-59122600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr15:59106800-59125200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:59106800-59125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:59106800-59125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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