Variant report

Variant	rs9530905
Chromosome Location	chr13:79946335-79946336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79944448..79946891-chr13:79951431..79952941,2	MCF-7	breast:
2	chr13:79945909..79948690-chr13:79954494..79956111,2	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1007569	0.86[ASN][1000 genomes]
rs1028770	0.83[ASN][1000 genomes]
rs10444623	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12865187	0.86[ASN][1000 genomes]
rs12871015	0.88[ASN][1000 genomes]
rs12872328	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12875039	0.88[ASN][1000 genomes]
rs1324870	0.84[ASN][1000 genomes]
rs1408657	0.88[ASN][1000 genomes]
rs1408658	0.88[ASN][1000 genomes]
rs1409018	0.86[ASN][1000 genomes]
rs1409019	0.86[ASN][1000 genomes]
rs1410332	0.86[ASN][1000 genomes]
rs1410336	0.90[ASN][1000 genomes]
rs1626333	0.83[ASN][1000 genomes]
rs1748768	0.86[ASN][1000 genomes]
rs1749983	0.86[ASN][1000 genomes]
rs1752646	0.88[ASN][1000 genomes]
rs1752647	0.88[ASN][1000 genomes]
rs1752648	0.88[ASN][1000 genomes]
rs1752649	0.88[ASN][1000 genomes]
rs1856996	0.84[ASN][1000 genomes]
rs1856997	0.84[ASN][1000 genomes]
rs1927506	0.86[ASN][1000 genomes]
rs1980883	0.86[ASN][1000 genomes]
rs2025913	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057573	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2147566	0.85[ASN][1000 genomes]
rs2182010	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182873	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274555	0.87[ASN][1000 genomes]
rs2765079	0.88[ASN][1000 genomes]
rs2769552	0.85[ASN][1000 genomes]
rs28579970	0.86[ASN][1000 genomes]
rs2876739	0.85[ASN][1000 genomes]
rs3187338	0.88[ASN][1000 genomes]
rs36152718	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3742117	0.88[ASN][1000 genomes]
rs3742118	0.88[ASN][1000 genomes]
rs3742119	0.89[ASN][1000 genomes]
rs3742120	0.81[AMR][1000 genomes]
rs3742122	0.81[AMR][1000 genomes]
rs3752994	0.90[ASN][1000 genomes]
rs3818563	0.86[ASN][1000 genomes]
rs3903388	0.89[ASN][1000 genomes]
rs4264284	0.80[ASN][1000 genomes]
rs4328330	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4351945	0.82[ASN][1000 genomes]
rs4497554	0.90[ASN][1000 genomes]
rs4573813	0.84[ASN][1000 genomes]
rs4884129	0.90[ASN][1000 genomes]
rs4885625	0.84[ASN][1000 genomes]
rs4885626	0.86[ASN][1000 genomes]
rs4885627	0.86[ASN][1000 genomes]
rs4885628	0.86[ASN][1000 genomes]
rs4885629	0.86[ASN][1000 genomes]
rs56911077	0.91[ASN][1000 genomes]
rs6563096	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6563098	0.86[ASN][1000 genomes]
rs7140027	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7317343	0.86[ASN][1000 genomes]
rs7317416	0.88[ASN][1000 genomes]
rs7319212	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7319252	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7319320	0.88[ASN][1000 genomes]
rs7322167	0.88[ASN][1000 genomes]
rs7322673	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322744	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7322756	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7324006	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327386	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7327603	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7332004	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7332367	0.87[ASN][1000 genomes]
rs7332913	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7333904	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7338170	0.83[ASN][1000 genomes]
rs7338677	0.90[ASN][1000 genomes]
rs7981067	0.87[ASN][1000 genomes]
rs7983344	0.84[ASN][1000 genomes]
rs7987769	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7988331	0.85[ASN][1000 genomes]
rs7988784	0.88[ASN][1000 genomes]
rs7995243	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996652	0.88[ASN][1000 genomes]
rs7998837	0.89[ASN][1000 genomes]
rs9285309	0.88[ASN][1000 genomes]
rs9285310	0.87[ASN][1000 genomes]
rs9318621	0.88[ASN][1000 genomes]
rs9318623	0.89[ASN][1000 genomes]
rs9318624	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9318625	0.90[ASN][1000 genomes]
rs9318626	0.91[ASN][1000 genomes]
rs9318627	0.91[ASN][1000 genomes]
rs9318633	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318634	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs943709	0.82[ASN][1000 genomes]
rs943710	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs943711	0.82[ASN][1000 genomes]
rs943712	0.82[ASN][1000 genomes]
rs9530889	0.80[ASN][1000 genomes]
rs9530891	0.84[ASN][1000 genomes]
rs9530893	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9530894	0.88[ASN][1000 genomes]
rs9530895	0.88[ASN][1000 genomes]
rs9530896	0.88[ASN][1000 genomes]
rs9530897	0.88[ASN][1000 genomes]
rs9530900	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9530901	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9530902	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9530904	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530906	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545047	0.85[ASN][1000 genomes]
rs9545048	0.84[ASN][1000 genomes]
rs9545052	0.85[ASN][1000 genomes]
rs9545053	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9545054	0.85[ASN][1000 genomes]
rs9545055	0.85[ASN][1000 genomes]
rs9545061	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9545065	0.86[ASN][1000 genomes]
rs9545066	0.86[ASN][1000 genomes]
rs9545067	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9545068	0.88[ASN][1000 genomes]
rs9545069	0.88[ASN][1000 genomes]
rs9545073	0.89[ASN][1000 genomes]
rs9545076	0.88[ASN][1000 genomes]
rs9545078	0.89[ASN][1000 genomes]
rs9545079	0.89[ASN][1000 genomes]
rs9545082	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545083	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545085	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545086	0.94[ASN][1000 genomes]
rs9545087	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9545090	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545092	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545093	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9565482	0.83[ASN][1000 genomes]
rs9565483	0.83[ASN][1000 genomes]
rs9565485	0.86[ASN][1000 genomes]
rs9565486	0.86[ASN][1000 genomes]
rs9565487	0.88[ASN][1000 genomes]
rs9565488	0.88[ASN][1000 genomes]
rs9565489	0.88[ASN][1000 genomes]
rs9565491	0.88[ASN][1000 genomes]
rs9565492	0.90[ASN][1000 genomes]
rs9574402	0.86[ASN][1000 genomes]
rs9574405	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9574406	0.87[ASN][1000 genomes]
rs9574409	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9574410	0.87[ASN][1000 genomes]
rs9574411	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9593391	0.87[ASN][1000 genomes]
rs9601211	0.87[ASN][1000 genomes]
rs9601217	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635027	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv3330376	chr13:79945976-79948724	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3395442	chr13:79946097-79946338	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9530905	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
2	chr13:79887200-79946600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:79888200-79947000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr13:79888400-79947000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:79891600-79946800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:79891600-79947000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:79891600-79947000	Strong transcription	Dnd41	blood
8	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
10	chr13:79899000-79946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:79921200-79947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:79921600-79946800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:79922400-79947000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:79922800-79946600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:79923200-79946800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:79923800-79946400	Strong transcription	Fetal Thymus	thymus
18	chr13:79924000-79947000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:79924400-79947000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr13:79924800-79946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:79925600-79946400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:79925600-79947000	Strong transcription	Fetal Intestine Large	intestine
23	chr13:79926000-79946400	Strong transcription	Adipose Nuclei	Adipose
24	chr13:79926400-79946400	Strong transcription	Fetal Lung	lung
25	chr13:79926800-79946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:79926800-79947000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:79930800-79946800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:79932200-79946600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:79932400-79946400	Strong transcription	HUVEC	blood vessel
30	chr13:79934800-79946400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr13:79935200-79946600	Strong transcription	Fetal Muscle Leg	muscle
32	chr13:79935400-79946400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr13:79935400-79947000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:79935600-79946400	Strong transcription	Liver	Liver
35	chr13:79935600-79946400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr13:79935800-79946800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:79936000-79946400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:79936000-79946800	Strong transcription	HSMM	muscle
39	chr13:79936200-79946400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:79936400-79946400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:79936600-79946400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:79936800-79946800	Strong transcription	A549	lung
43	chr13:79936800-79948600	Weak transcription	Fetal Heart	heart
44	chr13:79937600-79946800	Strong transcription	HepG2	liver
45	chr13:79937800-79946400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:79937800-79946400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:79937800-79946800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr13:79938000-79946400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:79938000-79946400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr13:79938000-79947000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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