Variant report

Variant	rs918227
Chromosome Location	chr17:20002164-20002165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10083856	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11867585	0.84[CEU][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11868084	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11868116	0.81[CHB][hapmap]
rs11869616	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11870111	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871651	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs119672	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1479129	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1638525	0.93[CHB][hapmap]
rs169412	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs16960697	0.81[CHB][hapmap]
rs175922	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1860302	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs203450	0.87[CHB][hapmap]
rs203457	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203458	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203460	0.87[CHB][hapmap]
rs203462	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203465	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203466	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203477	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203479	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs203481	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2042046	0.85[JPT][hapmap]
rs2108978	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2703800	0.81[CHB][hapmap]
rs2703803	0.80[CHB][hapmap]
rs2703805	0.81[CHB][hapmap]
rs28603224	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28637614	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28666381	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28807825	0.80[AMR][1000 genomes]
rs34290687	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34401389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35003563	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35313716	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36077949	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3862152	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3888318	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3909258	0.80[AMR][1000 genomes]
rs397969	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4005937	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4267380	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4479309	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4570919	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924803	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924806	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925060	0.81[CHB][hapmap]
rs4925065	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4925069	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4925072	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4925073	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4925077	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925079	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4925081	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4925085	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62067555	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207625	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208025	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7208365	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7208635	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209734	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7216599	0.81[CHB][hapmap]
rs7222403	0.87[CHB][hapmap]
rs7223305	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8078716	0.81[CHB][hapmap]
rs850623	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs860335	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs888423	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs918228	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889743	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9891739	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9896411	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9897246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9897653	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9907788	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9912775	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9915758	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9944451	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs918227	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19993400-20006400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:19993600-20003600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:19993800-20006400	Weak transcription	Esophagus	oesophagus
4	chr17:19993800-20008800	Weak transcription	GM12878-XiMat	blood
5	chr17:19999000-20002400	Weak transcription	Gastric	stomach
6	chr17:19999000-20006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:19999200-20002600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:19999200-20005000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:19999200-20008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:19999400-20004400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:19999400-20005000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:19999400-20005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:19999400-20011800	Weak transcription	A549	lung
15	chr17:19999600-20002600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:19999800-20002400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:20000000-20002200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:20000000-20003800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:20000000-20005600	Weak transcription	Brain Substantia Nigra	brain
20	chr17:20000200-20002400	Weak transcription	Fetal Muscle Leg	muscle
21	chr17:20000200-20006200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:20000400-20002400	Strong transcription	Adipose Nuclei	Adipose
23	chr17:20000600-20002200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr17:20000600-20002400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:20000600-20002400	Strong transcription	Brain Anterior Caudate	brain
26	chr17:20000600-20006600	Weak transcription	Ovary	ovary
27	chr17:20000800-20002400	Strong transcription	Aorta	Aorta
28	chr17:20000800-20005000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:20001200-20002200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr17:20001400-20002200	ZNF genes & repeats	Spleen	Spleen
31	chr17:20001400-20002400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:20001400-20002600	Strong transcription	Brain Angular Gyrus	brain
33	chr17:20001600-20002200	Strong transcription	Brain Hippocampus Middle	brain
34	chr17:20002000-20004200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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