Variant report

Variant	rs11692418
Chromosome Location	chr2:172792599-172792600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172777286..172779287-chr2:172791011..172793857,2	K562	blood:
2	chr2:172783311..172785755-chr2:172790702..172794266,5	K562	blood:
3	chr2:172777286..172780989-chr2:172791243..172793857,3	K562	blood:
4	chr2:172785586..172787767-chr2:172791438..172793230,2	K562	blood:
5	chr2:172792590..172794612-chr2:172796180..172797698,2	K562	blood:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10166352	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10177679	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10188587	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196521	1.00[JPT][hapmap]
rs1022358	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10439296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930496	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10930498	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930500	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930501	0.80[ASN][1000 genomes]
rs11676484	1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[ASN][1000 genomes]
rs11677573	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11695887	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883977	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12467010	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12468218	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12473516	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12478215	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12479374	1.00[JPT][hapmap]
rs12617265	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619137	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12692977	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12692979	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13017988	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13018515	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13021571	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13399316	0.88[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1400816	1.00[JPT][hapmap]
rs1443700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1543168	1.00[JPT][hapmap]
rs1607253	1.00[JPT][hapmap]
rs1878583	1.00[JPT][hapmap]
rs1982288	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2028670	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2028671	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2028672	1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2028673	0.85[AFR][1000 genomes]
rs2028674	0.85[AFR][1000 genomes]
rs2056202	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2138873	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2176466	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2292813	1.00[JPT][hapmap]
rs2357064	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2357206	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2357207	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2357208	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28372952	1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2884123	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3770443	1.00[JPT][hapmap]
rs3770453	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs3770457	1.00[JPT][hapmap]
rs3791343	0.80[ASN][1000 genomes]
rs3821092	1.00[JPT][hapmap]
rs3821094	1.00[JPT][hapmap]
rs3821096	1.00[JPT][hapmap]
rs4072279	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4668413	0.91[EUR][1000 genomes]
rs4668415	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4668416	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4668417	1.00[JPT][hapmap]
rs4668419	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59853867	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60315614	0.81[AMR][1000 genomes]
rs60706248	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433313	1.00[JPT][hapmap]
rs6433315	1.00[JPT][hapmap]
rs6433317	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433318	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433322	0.88[JPT][hapmap];0.82[YRI][hapmap]
rs6707142	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6708365	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6709299	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6711813	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6714214	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6726050	0.92[AFR][1000 genomes]
rs6726991	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6727459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6736159	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6740705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741030	0.87[AFR][1000 genomes]
rs6742905	0.84[ASN][1000 genomes]
rs6753859	1.00[JPT][hapmap]
rs6757680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760680	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7340516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7371503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7580132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7580232	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7588025	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7594478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7597525	0.84[ASN][1000 genomes]
rs925881	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9287948	1.00[JPT][hapmap]
rs949548	1.00[JPT][hapmap]
rs9636293	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs970948	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]

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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11692418	AC068039.4	cis	Stomach	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172812800	Weak transcription	Lung	lung
3	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
5	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
6	chr2:172780200-172795400	Weak transcription	Gastric	stomach
7	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:172780600-172795200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
14	chr2:172780600-172811200	Weak transcription	NHEK	skin
15	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:172780600-172822200	Weak transcription	Liver	Liver
17	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
18	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
20	chr2:172781000-172792600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:172781000-172795400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
23	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:172781200-172801400	Weak transcription	NHDF-Ad	bronchial
25	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
28	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:172783800-172792800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:172783800-172792800	Weak transcription	Osteobl	bone
31	chr2:172783800-172796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:172783800-172811200	Weak transcription	HMEC	breast
33	chr2:172784000-172804200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:172784000-172811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:172784200-172795200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:172784200-172811200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:172784600-172815000	Weak transcription	Left Ventricle	heart
38	chr2:172785000-172811200	Weak transcription	Adipose Nuclei	Adipose
39	chr2:172785200-172796200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
42	chr2:172785600-172796400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:172785800-172792800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:172785800-172796800	Weak transcription	A549	lung
45	chr2:172785800-172806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:172786200-172800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:172786400-172797400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:172787000-172796400	Weak transcription	HSMM	muscle
50	chr2:172787000-172804400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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