Variant report

Variant	rs9919926
Chromosome Location	chr14:55813890-55813891
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55813775..55816746-chr14:55819381..55821287,2	MCF-7	breast:
2	chr14:55812101..55814480-chr14:55815427..55818099,3	K562	blood:
3	chr14:55812369..55814760-chr14:55818097..55821866,3	MCF-7	breast:
4	chr14:55805679..55808229-chr14:55812285..55814310,2	MCF-7	breast:
5	chr14:55738097..55739764-chr14:55812184..55814434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000258455	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10129505	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs10131562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10131730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs10132453	0.96[ASN][1000 genomes]
rs10134213	0.93[AFR][1000 genomes]
rs10134317	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10134339	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10136596	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137307	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139000	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139083	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10139337	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140801	0.92[CEU][hapmap]
rs10140857	0.82[CEU][hapmap]
rs10140869	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10141396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10141552	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10142448	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144345	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10144418	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145203	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10146637	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10147765	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149420	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10150760	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045004	0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10467798	0.85[CEU][hapmap]
rs1109170	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs11158034	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11158037	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11621265	0.95[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs11622740	0.85[CEU][hapmap]
rs11625001	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625423	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11625968	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs11626751	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628437	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11848456	0.81[ASN][1000 genomes]
rs11848575	0.81[ASN][1000 genomes]
rs11851169	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050099	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050123	0.95[ASN][1000 genomes]
rs1572611	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128440	0.92[EUR][1000 genomes]
rs17674463	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17674563	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17675223	0.80[ASN][1000 genomes]
rs17740741	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17741542	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17741831	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1815580	0.88[EUR][1000 genomes]
rs1815581	0.90[EUR][1000 genomes]
rs1972221	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs2009291	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2016931	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026633	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2182797	0.89[EUR][1000 genomes]
rs2209808	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274273	0.85[CEU][hapmap]
rs2297816	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2340931	0.89[CEU][hapmap]
rs2341621	0.85[CEU][hapmap]
rs2341622	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs28428911	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28430823	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28452705	0.95[ASN][1000 genomes]
rs28493647	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28568813	0.81[EUR][1000 genomes]
rs28612464	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28631821	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28660594	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28716725	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2880103	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs35112084	0.81[ASN][1000 genomes]
rs3742569	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783649	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3783650	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783651	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3783652	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825616	0.89[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4366639	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4496026	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4580079	0.81[ASN][1000 genomes]
rs4597235	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56270323	0.90[EUR][1000 genomes]
rs56949365	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58260073	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58296156	0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58458194	0.81[ASN][1000 genomes]
rs59629906	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59871474	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60248556	0.81[ASN][1000 genomes]
rs6573009	0.89[CEU][hapmap]
rs6573013	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6573014	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6573017	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs6573020	0.85[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs66464079	0.83[ASN][1000 genomes]
rs66486619	0.91[EUR][1000 genomes]
rs66551709	0.84[ASN][1000 genomes]
rs66696758	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67386901	0.81[ASN][1000 genomes]
rs67412516	0.95[ASN][1000 genomes]
rs67514154	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67795323	0.84[ASN][1000 genomes]
rs67822108	0.81[ASN][1000 genomes]
rs68046603	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68138420	0.81[ASN][1000 genomes]
rs7140628	0.83[ASN][1000 genomes]
rs7144737	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145727	0.83[EUR][1000 genomes]
rs7147136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147247	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs7150234	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7150763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7151581	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs7151754	0.81[ASN][1000 genomes]
rs7152390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7153110	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153612	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153645	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154796	0.82[ASN][1000 genomes]
rs7154831	0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7154889	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs7155954	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7157308	0.81[ASN][1000 genomes]
rs7158768	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7158791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7159144	0.93[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7159808	0.82[CEU][hapmap]
rs7159824	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs7161439	0.95[ASN][1000 genomes]
rs72715769	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717738	0.95[ASN][1000 genomes]
rs8005450	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8006525	0.93[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8008119	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013713	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8014540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs8015211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs8021583	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8022041	0.91[EUR][1000 genomes]
rs8023197	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9323284	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323285	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs946059	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9919923	0.99[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9919932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9919926	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:55782000-55817200	Weak transcription	HSMM	muscle
4	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:55800000-55817200	Weak transcription	Dnd41	blood
7	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:55801000-55817200	Weak transcription	HepG2	liver
10	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:55801200-55817200	Weak transcription	Liver	Liver
13	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
15	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:55802200-55817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:55802200-55817400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:55803400-55817200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:55803400-55817200	Weak transcription	Placenta	Placenta
22	chr14:55803600-55817200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:55805200-55817200	Weak transcription	Fetal Intestine Large	intestine
24	chr14:55805800-55817600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:55806600-55817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:55806800-55815600	Weak transcription	Fetal Kidney	kidney
27	chr14:55806800-55820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:55807000-55816600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:55807000-55817000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:55807000-55817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:55807000-55817600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:55807200-55815600	Weak transcription	HMEC	breast
33	chr14:55807200-55817200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:55807200-55817200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:55807200-55817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:55807200-55817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:55807200-55817800	Weak transcription	HSMMtube	muscle
38	chr14:55807400-55817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:55807400-55817200	Weak transcription	Esophagus	oesophagus
40	chr14:55807400-55817200	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:55807400-55817200	Weak transcription	Fetal Stomach	stomach
42	chr14:55807400-55817200	Weak transcription	Fetal Thymus	thymus
43	chr14:55807400-55817600	Weak transcription	Aorta	Aorta
44	chr14:55807600-55817200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:55808000-55815800	Weak transcription	Fetal Lung	lung
46	chr14:55808000-55817200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:55808000-55817200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:55808200-55815400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:55808200-55817000	Weak transcription	Thymus	Thymus
50	chr14:55808600-55814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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