Variant report

Variant	rs6727682
Chromosome Location	chr2:211339162-211339163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211325572..211327768-chr2:211338184..211340482,2	K562	blood:
2	chr2:211331262..211333648-chr2:211337873..211339942,2	MCF-7	breast:
3	chr2:211331048..211333465-chr2:211338330..211339916,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10932334	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12464878	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12474078	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618926	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12623942	0.96[ASN][1000 genomes]
rs1396954	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17552879	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2042049	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287417	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287418	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287419	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287420	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287421	1.00[ASN][1000 genomes]
rs2287422	1.00[ASN][1000 genomes]
rs2370948	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3732055	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755182	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770685	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3770687	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770690	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770691	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856340	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856342	0.99[ASN][1000 genomes]
rs3856343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3856344	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3856345	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856346	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3856347	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856348	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856349	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672575	0.92[ASN][1000 genomes]
rs4672577	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673530	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4673531	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4673532	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4673533	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62203668	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203669	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203670	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203673	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203674	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62203675	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569252	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6727682	CPS1	cis	Artery Tibial	GTEx
rs6727682	LANCL1	cis	Esophagus Muscularis	GTEx
rs6727682	LANCL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
2	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
3	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:211322400-211340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:211322600-211340400	Weak transcription	K562	blood
11	chr2:211323400-211340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:211325800-211340800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:211326800-211339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:211329800-211339200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:211331400-211340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:211331400-211340400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:211331400-211341000	Weak transcription	Spleen	Spleen
18	chr2:211332000-211340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:211332200-211340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:211332600-211340400	Weak transcription	Right Ventricle	heart
21	chr2:211333400-211340400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:211333600-211340600	Weak transcription	Psoas Muscle	Psoas
23	chr2:211333600-211340800	Weak transcription	Esophagus	oesophagus
24	chr2:211333600-211340800	Weak transcription	Lung	lung
25	chr2:211333600-211340800	Weak transcription	Pancreas	Pancrea
26	chr2:211333600-211341000	Weak transcription	Gastric	stomach
27	chr2:211333800-211340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:211334000-211339600	Weak transcription	Fetal Brain Male	brain
29	chr2:211334000-211340200	Weak transcription	HSMMtube	muscle
30	chr2:211334400-211340200	Weak transcription	HMEC	breast
31	chr2:211334400-211340400	Weak transcription	NHDF-Ad	bronchial
32	chr2:211334400-211340600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:211335000-211340200	Weak transcription	Fetal Kidney	kidney
34	chr2:211335000-211340400	Weak transcription	Fetal Heart	heart
35	chr2:211335200-211340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:211336600-211339600	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:211336800-211339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:211336800-211339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:211336800-211339600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:211336800-211339600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:211336800-211339600	Weak transcription	Adipose Nuclei	Adipose
42	chr2:211336800-211339600	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:211336800-211339600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:211336800-211339800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:211336800-211339800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:211336800-211339800	Weak transcription	A549	lung
47	chr2:211336800-211339800	Weak transcription	HepG2	liver
48	chr2:211336800-211340000	Weak transcription	NHEK	skin
49	chr2:211336800-211340200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:211336800-211340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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