Variant report

Variant	rs34724718
Chromosome Location	chr6:56557822-56557823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1024196	1.00[ASN][1000 genomes]
rs10498811	1.00[EUR][1000 genomes]
rs11961141	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11961342	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966986	1.00[ASN][1000 genomes]
rs11967796	1.00[ASN][1000 genomes]
rs11968575	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11970410	0.90[ASN][1000 genomes]
rs13191164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192037	1.00[EUR][1000 genomes]
rs13192478	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13192567	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13196211	0.98[EUR][1000 genomes]
rs13198399	0.83[EUR][1000 genomes]
rs13198938	0.83[EUR][1000 genomes]
rs13203000	0.83[EUR][1000 genomes]
rs13205013	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206849	1.00[EUR][1000 genomes]
rs13210876	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13213878	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13217390	0.83[EUR][1000 genomes]
rs13219546	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13219942	0.85[EUR][1000 genomes]
rs16888085	0.90[ASN][1000 genomes]
rs16888096	1.00[ASN][1000 genomes]
rs16888106	1.00[ASN][1000 genomes]
rs16888118	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888126	0.97[EUR][1000 genomes]
rs16888128	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888130	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888133	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888135	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17684511	1.00[EUR][1000 genomes]
rs17684553	0.98[EUR][1000 genomes]
rs17684571	0.98[EUR][1000 genomes]
rs17751682	1.00[EUR][1000 genomes]
rs17751695	1.00[EUR][1000 genomes]
rs2144407	1.00[ASN][1000 genomes]
rs2180148	1.00[ASN][1000 genomes]
rs2967960	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967963	0.81[EUR][1000 genomes]
rs3002003	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002004	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002006	0.83[EUR][1000 genomes]
rs3002007	0.81[EUR][1000 genomes]
rs3002008	0.83[EUR][1000 genomes]
rs3002009	0.83[EUR][1000 genomes]
rs3002010	0.83[EUR][1000 genomes]
rs3002011	0.83[EUR][1000 genomes]
rs34138864	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34429594	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34455199	0.83[EUR][1000 genomes]
rs34465210	0.83[EUR][1000 genomes]
rs34566275	0.83[EUR][1000 genomes]
rs34576803	0.98[EUR][1000 genomes]
rs34587484	0.83[EUR][1000 genomes]
rs34623351	0.83[EUR][1000 genomes]
rs34803237	0.83[EUR][1000 genomes]
rs34812826	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34824960	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34832779	0.82[EUR][1000 genomes]
rs35089136	0.89[ASN][1000 genomes]
rs35206656	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35326806	0.85[EUR][1000 genomes]
rs35408048	1.00[EUR][1000 genomes]
rs35494794	0.85[EUR][1000 genomes]
rs35619924	1.00[EUR][1000 genomes]
rs35637749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35668437	1.00[EUR][1000 genomes]
rs35687635	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876418	0.83[EUR][1000 genomes]
rs35920751	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36068365	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072271	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073960	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4074101	1.00[EUR][1000 genomes]
rs4074102	1.00[EUR][1000 genomes]
rs4074103	0.97[EUR][1000 genomes]
rs41267673	1.00[ASN][1000 genomes]
rs41267675	0.83[EUR][1000 genomes]
rs4133076	1.00[ASN][1000 genomes]
rs4262190	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4275049	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4574644	0.89[ASN][1000 genomes]
rs4640889	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5024547	1.00[EUR][1000 genomes]
rs55742092	0.97[EUR][1000 genomes]
rs56094263	0.89[ASN][1000 genomes]
rs56101897	1.00[EUR][1000 genomes]
rs56196625	1.00[ASN][1000 genomes]
rs57289287	1.00[ASN][1000 genomes]
rs57392123	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57488435	1.00[ASN][1000 genomes]
rs58565063	1.00[ASN][1000 genomes]
rs59073430	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59085778	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162324	0.89[ASN][1000 genomes]
rs59247267	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59772940	1.00[ASN][1000 genomes]
rs59889120	1.00[ASN][1000 genomes]
rs60360551	1.00[ASN][1000 genomes]
rs60498201	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62412526	1.00[EUR][1000 genomes]
rs62412528	1.00[EUR][1000 genomes]
rs62412531	1.00[EUR][1000 genomes]
rs62412532	1.00[EUR][1000 genomes]
rs62412556	0.83[EUR][1000 genomes]
rs6459167	1.00[ASN][1000 genomes]
rs6459168	1.00[ASN][1000 genomes]
rs6900572	1.00[ASN][1000 genomes]
rs6901176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903815	1.00[ASN][1000 genomes]
rs6916813	1.00[ASN][1000 genomes]
rs6924375	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926134	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938003	0.82[EUR][1000 genomes]
rs71564848	0.98[EUR][1000 genomes]
rs71564849	0.98[EUR][1000 genomes]
rs73746926	1.00[ASN][1000 genomes]
rs73746929	1.00[ASN][1000 genomes]
rs73746930	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73746931	1.00[ASN][1000 genomes]
rs7749100	1.00[ASN][1000 genomes]
rs7749437	1.00[ASN][1000 genomes]
rs7759479	1.00[ASN][1000 genomes]
rs7760503	1.00[ASN][1000 genomes]
rs7760542	1.00[ASN][1000 genomes]
rs7761027	1.00[ASN][1000 genomes]
rs7767128	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv432888	chr6:56507489-56560764	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56543000-56559400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:56546200-56564800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:56547400-56561600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:56549600-56558000	Weak transcription	HMEC	breast
5	chr6:56549600-56573600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:56549800-56578000	Weak transcription	Gastric	stomach
7	chr6:56553200-56558600	Active TSS	Fetal Intestine Large	intestine
8	chr6:56553200-56558600	Active TSS	Fetal Intestine Small	intestine
9	chr6:56553400-56558400	Active TSS	Right Ventricle	heart
10	chr6:56553600-56558400	Active TSS	Colonic Mucosa	Colon
11	chr6:56553600-56558400	Active TSS	Stomach Smooth Muscle	stomach
12	chr6:56553800-56558400	Active TSS	Right Atrium	heart
13	chr6:56553800-56560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:56554000-56558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:56554000-56560600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:56554000-56574600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:56554400-56558400	Active TSS	Psoas Muscle	Psoas
18	chr6:56554400-56558400	Flanking Active TSS	HepG2	liver
19	chr6:56554600-56558600	Flanking Active TSS	Osteobl	bone
20	chr6:56554800-56558000	Active TSS	Brain Substantia Nigra	brain
21	chr6:56555000-56558400	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:56555000-56558400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr6:56555000-56558600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:56555200-56558200	ZNF genes & repeats	Fetal Brain Male	brain
25	chr6:56555200-56558400	Active TSS	Brain Angular Gyrus	brain
26	chr6:56555200-56558600	Enhancers	Fetal Heart	heart
27	chr6:56555400-56558000	Active TSS	Aorta	Aorta
28	chr6:56555400-56558200	Active TSS	Left Ventricle	heart
29	chr6:56555400-56558400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:56555400-56558400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:56555400-56558400	Active TSS	Fetal Lung	lung
32	chr6:56555400-56558600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:56555400-56559400	Weak transcription	GM12878-XiMat	blood
34	chr6:56555400-56574600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:56555600-56558400	Active TSS	Colon Smooth Muscle	Colon
36	chr6:56555600-56559400	Weak transcription	Small Intestine	intestine
37	chr6:56555800-56558000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:56555800-56558200	Active TSS	Fetal Stomach	stomach
39	chr6:56555800-56558400	Active TSS	Duodenum Mucosa	Duodenum
40	chr6:56555800-56561200	Enhancers	HUVEC	blood vessel
41	chr6:56555800-56561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:56555800-56573600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:56556000-56558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:56556000-56558000	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:56556000-56558000	Weak transcription	NHEK	skin
46	chr6:56556000-56568400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:56556200-56558000	Active TSS	NHLF	lung
48	chr6:56556200-56573600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:56556200-56574400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:56556400-56561800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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