Variant report

Variant	rs11164791
Chromosome Location	chr1:93119634-93119635
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	chr1:93119617..93122057-chr1:93123545..93126419,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs1003116	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10218670	0.82[CHB][hapmap]
rs1034218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1034219	0.82[CHB][hapmap]
rs10735779	0.82[CHB][hapmap]
rs10735781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735782	0.82[CHB][hapmap]
rs10747445	0.82[CHB][hapmap]
rs10747446	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10747448	0.82[CHB][hapmap]
rs10747449	0.82[CHB][hapmap]
rs10747450	0.82[CHB][hapmap]
rs10782912	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs10782922	0.82[CHB][hapmap]
rs10782936	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10782937	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10782940	0.82[CHB][hapmap]
rs10782941	0.86[EUR][1000 genomes]
rs10782945	1.00[JPT][hapmap]
rs10874710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874711	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10874715	0.82[CHB][hapmap]
rs10874716	0.82[CHB][hapmap]
rs10874724	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10874726	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874727	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874728	0.82[CHB][hapmap]
rs10874729	0.82[CHB][hapmap]
rs10874731	0.82[CHB][hapmap]
rs10874732	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874733	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874736	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874738	0.84[EUR][1000 genomes]
rs10874744	1.00[JPT][hapmap]
rs11164607	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11164608	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11164778	0.82[CHB][hapmap]
rs11164785	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11164789	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164796	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11164804	0.82[CHB][hapmap]
rs11164807	0.84[EUR][1000 genomes]
rs11164808	0.82[CHB][hapmap]
rs11164810	0.83[EUR][1000 genomes]
rs12021539	0.80[EUR][1000 genomes]
rs12025792	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046739	0.82[CHB][hapmap]
rs12123935	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12401423	0.81[EUR][1000 genomes]
rs1325434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1337107	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1337109	0.82[CHB][hapmap]
rs1359490	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1408916	0.82[CHB][hapmap]
rs1415294	0.82[CHB][hapmap]
rs1415295	0.82[CHB][hapmap]
rs1535372	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1537498	0.82[CHB][hapmap]
rs1538029	0.82[CHB][hapmap]
rs1556562	0.82[CHB][hapmap]
rs1556564	0.82[CHB][hapmap]
rs1556565	0.82[CHB][hapmap]
rs1570837	0.82[CHB][hapmap]
rs1886682	0.82[CHB][hapmap]
rs1886683	0.82[CHB][hapmap]
rs1886684	0.95[CEU][hapmap]
rs1932965	1.00[CHB][hapmap]
rs1932966	0.82[CHB][hapmap]
rs2027059	0.82[CHB][hapmap]
rs2027060	0.82[CHB][hapmap]
rs2039452	0.82[CHB][hapmap]
rs2050597	0.82[CHB][hapmap]
rs2065915	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs2065916	0.82[CHB][hapmap]
rs2095268	0.82[CHB][hapmap]
rs2107518	0.85[EUR][1000 genomes]
rs2107519	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2107520	0.82[CHB][hapmap]
rs2107521	0.82[CHB][hapmap]
rs2151577	0.82[CHB][hapmap]
rs2158446	0.82[CHB][hapmap]
rs2180977	0.82[CHB][hapmap]
rs2391164	0.82[CHB][hapmap]
rs2391196	0.82[CHB][hapmap]
rs2391197	0.88[EUR][1000 genomes]
rs2391199	0.82[CHB][hapmap]
rs2893217	0.82[CHB][hapmap]
rs35029291	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35054144	0.82[CHB][hapmap]
rs3790445	0.82[CHB][hapmap]
rs3790446	0.82[CHB][hapmap]
rs3903212	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3928821	0.82[CHB][hapmap]
rs3936944	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3936945	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs3936946	1.00[CHB][hapmap]
rs4294422	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4294424	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480368	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4484938	0.80[CEU][hapmap]
rs4568842	0.82[CHB][hapmap]
rs4847181	0.82[CHB][hapmap]
rs4847232	0.82[CHB][hapmap]
rs4847247	0.82[CHB][hapmap]
rs4847266	0.82[CHB][hapmap]
rs4847267	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847280	0.82[CHB][hapmap]
rs4847301	0.89[EUR][1000 genomes]
rs4847305	0.82[CHB][hapmap]
rs4847306	0.87[EUR][1000 genomes]
rs4847311	0.81[EUR][1000 genomes]
rs4847327	0.82[CHB][hapmap]
rs4847377	0.82[CHB][hapmap]
rs4847432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970700	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4970702	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4970707	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs4970709	0.82[CHB][hapmap]
rs4970710	0.82[CHB][hapmap]
rs4970712	0.82[CHB][hapmap]
rs4970714	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs6422512	0.82[CHB][hapmap]
rs6422515	0.82[CHB][hapmap]
rs6603979	0.82[CHB][hapmap]
rs6603981	0.82[CHB][hapmap]
rs6603982	0.82[CHB][hapmap]
rs6603984	0.82[CHB][hapmap]
rs6603985	0.82[CHB][hapmap]
rs6603986	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs6603987	0.82[CHB][hapmap]
rs6603988	0.82[CHB][hapmap]
rs6603989	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6603990	0.82[CHB][hapmap]
rs6603992	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs6603993	0.82[CHB][hapmap]
rs6603994	0.82[CHB][hapmap]
rs6603995	0.82[CHB][hapmap]
rs6603997	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6603999	0.82[CHB][hapmap]
rs6604003	0.82[CHB][hapmap]
rs6604007	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6604008	0.91[EUR][1000 genomes]
rs6604010	0.82[CHB][hapmap]
rs6604013	0.90[EUR][1000 genomes]
rs6604014	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6604015	0.82[CHB][hapmap]
rs6604018	0.82[CHB][hapmap]
rs6660136	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6660962	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6661600	0.82[CHB][hapmap]
rs6666831	0.96[CEU][hapmap];0.97[YRI][hapmap];0.87[EUR][1000 genomes]
rs6671114	0.82[CHB][hapmap]
rs6671421	0.82[CHB][hapmap]
rs6675246	0.82[CHB][hapmap]
rs6675753	0.87[EUR][1000 genomes]
rs6675757	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6680578	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682801	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6685705	0.82[CHB][hapmap]
rs6692187	0.82[CHB][hapmap]
rs6695638	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6696173	0.82[CHB][hapmap]
rs6696636	0.82[CHB][hapmap]
rs6697491	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6701130	0.82[CHB][hapmap]
rs6703467	0.82[CHB][hapmap]
rs722356	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7416169	0.82[CHB][hapmap]
rs7417452	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7418336	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7513775	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7513815	0.82[CHB][hapmap]
rs7514334	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514716	0.82[CHB][hapmap]
rs7515577	0.82[CHB][hapmap]
rs7516141	0.82[CHB][hapmap]
rs7520630	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs7521752	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7526582	0.82[CHB][hapmap]
rs7529332	0.82[CHB][hapmap]
rs7529630	0.82[CHB][hapmap]
rs7530780	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535490	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539761	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7540407	0.82[CHB][hapmap]
rs7541588	0.83[EUR][1000 genomes]
rs7541942	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7543327	0.82[CHB][hapmap]
rs7545318	0.82[CHB][hapmap]
rs7546197	0.92[EUR][1000 genomes]
rs7549844	0.82[CHB][hapmap]
rs7551324	0.81[EUR][1000 genomes]
rs7553367	0.82[CHB][hapmap]
rs7556243	0.82[CHB][hapmap]
rs911523	0.91[EUR][1000 genomes]
rs912795	0.82[CHB][hapmap]
rs912796	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs914966	0.82[CHB][hapmap]
rs927339	0.82[CHB][hapmap]
rs932637	0.82[CHB][hapmap]
rs942753	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs9439920	0.82[CHB][hapmap]
rs945724	0.82[CHB][hapmap]
rs963043	0.82[CHB][hapmap]
rs963044	0.82[CHB][hapmap]
rs9651256	0.82[CHB][hapmap]
rs976208	0.82[CHB][hapmap]
rs989653	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11164791	EVI5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
5	chr1:93102000-93119800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:93102000-93157600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:93110200-93120600	Weak transcription	Fetal Heart	heart
8	chr1:93111400-93119800	Weak transcription	Osteobl	bone
9	chr1:93112600-93120600	Weak transcription	Fetal Brain Male	brain
10	chr1:93114800-93121000	Weak transcription	HSMM	muscle
11	chr1:93115200-93120400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:93117800-93119800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:93117800-93123600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:93118000-93119800	Strong transcription	Liver	Liver
15	chr1:93118200-93119800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:93118200-93119800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:93118200-93120000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:93118400-93120000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:93118400-93120000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr1:93118400-93120000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr1:93118400-93120000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:93118400-93120000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr1:93118600-93119800	ZNF genes & repeats	Aorta	Aorta
24	chr1:93118600-93119800	Strong transcription	HSMMtube	muscle
25	chr1:93118600-93120000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:93118600-93120000	ZNF genes & repeats	Lung	lung
27	chr1:93118600-93120000	ZNF genes & repeats	Ovary	ovary
28	chr1:93118600-93120000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:93118600-93120200	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr1:93118600-93122000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr1:93118600-93123400	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr1:93118600-93123800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr1:93118800-93119800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:93118800-93119800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:93118800-93120000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:93118800-93120000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:93118800-93120000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr1:93118800-93120000	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr1:93118800-93120000	ZNF genes & repeats	Esophagus	oesophagus
40	chr1:93118800-93120000	ZNF genes & repeats	Spleen	Spleen
41	chr1:93118800-93120200	Enhancers	HMEC	breast
42	chr1:93119000-93119800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:93119000-93119800	Strong transcription	Gastric	stomach
44	chr1:93119000-93120000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr1:93119000-93120000	ZNF genes & repeats	Left Ventricle	heart
46	chr1:93119000-93120200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:93119000-93120200	ZNF genes & repeats	Fetal Lung	lung
48	chr1:93119000-93123600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr1:93119200-93119800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:93119200-93119800	Strong transcription	Rectal Smooth Muscle	rectum

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