Variant report

Variant	rs6679064
Chromosome Location	chr1:212359708-212359709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212358356..212360548-chr1:212371343..212374301,2	K562	blood:
2	chr1:212335240..212337640-chr1:212359354..212362015,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10436962	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10436976	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10779574	0.85[AFR][1000 genomes]
rs10863952	0.88[AFR][1000 genomes]
rs11119875	0.91[AFR][1000 genomes]
rs11119880	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11119884	0.82[CEU][hapmap]
rs11119885	0.83[CHB][hapmap]
rs11119887	0.90[EUR][1000 genomes]
rs12038888	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12039815	0.87[AFR][1000 genomes]
rs12041554	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402397	0.83[CHB][hapmap]
rs12742898	0.87[ASN][1000 genomes]
rs12746096	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1389369	0.83[CHB][hapmap]
rs1472224	0.96[ASN][1000 genomes]
rs1472226	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs2012917	0.83[CHB][hapmap]
rs2087946	0.83[CHB][hapmap]
rs2307128	0.91[EUR][1000 genomes]
rs2358452	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4325202	0.96[ASN][1000 genomes]
rs4362041	0.83[CHB][hapmap]
rs6540731	0.92[GIH][hapmap]
rs6540732	0.83[CHB][hapmap];0.92[GIH][hapmap];0.80[EUR][1000 genomes]
rs6540733	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs6657900	0.83[CHB][hapmap]
rs6668866	0.92[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs6679796	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7519168	0.92[CEU][hapmap];0.92[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7542973	0.88[EUR][1000 genomes]
rs903121	0.83[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6679064	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs6679064	SYT14	cis	cerebellum	SCAN
rs6679064	TMEM206	cis	Esophagus Mucosa	GTEx
rs6679064	TMEM206	cis	cerebellum	SCAN
rs6679064	LGTN	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
2	chr1:212353200-212361200	Weak transcription	Lung	lung
3	chr1:212354000-212360400	Weak transcription	Esophagus	oesophagus
4	chr1:212354200-212359800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:212354200-212360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:212354200-212361200	Weak transcription	HMEC	breast
7	chr1:212355200-212361200	Weak transcription	Left Ventricle	heart
8	chr1:212356000-212359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:212356000-212360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:212356200-212361000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:212357600-212359800	Weak transcription	HepG2	liver
12	chr1:212357800-212359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:212357800-212359800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:212357800-212361200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:212358000-212359800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:212358000-212361200	Weak transcription	Placenta	Placenta
17	chr1:212358000-212362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:212359200-212360000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:212359400-212360000	Weak transcription	NHEK	skin
20	chr1:212359400-212363400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:212359600-212359800	Enhancers	Colonic Mucosa	Colon
22	chr1:212359600-212359800	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:212359600-212359800	Enhancers	Dnd41	blood
24	chr1:212359600-212359800	Enhancers	GM12878-XiMat	blood
25	chr1:212359600-212360000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:212359600-212360000	Enhancers	Small Intestine	intestine
27	chr1:212359600-212360200	Enhancers	K562	blood
28	chr1:212359600-212360600	Enhancers	Stomach Mucosa	stomach
29	chr1:212359600-212361600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:212359600-212362200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:212359600-212362600	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:212359600-212363000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:212359600-212363200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:212359600-212363200	Enhancers	Adipose Nuclei	Adipose
35	chr1:212359600-212363200	Enhancers	Spleen	Spleen

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