Variant report

Variant	rs12760092
Chromosome Location	chr1:94106857-94106858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94106443..94109001-chr1:94145542..94148365,4	MCF-7	breast:
2	chr1:94106165..94107868-chr1:94109235..94111815,2	K562	blood:
3	chr1:94096748..94098935-chr1:94106081..94108705,3	K562	blood:
4	chr1:94105482..94107011-chr1:94132272..94133832,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	1.00[ASN][1000 genomes]
rs11579004	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579685	1.00[ASN][1000 genomes]
rs11580965	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11588860	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066343	1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	1.00[ASN][1000 genomes]
rs12739747	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740779	1.00[ASN][1000 genomes]
rs12744941	1.00[ASN][1000 genomes]
rs12757325	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760246	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17110063	1.00[ASN][1000 genomes]
rs17110101	1.00[ASN][1000 genomes]
rs17110111	1.00[ASN][1000 genomes]
rs17110179	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17110225	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1877604	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34423897	1.00[ASN][1000 genomes]
rs34663884	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34666525	1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	1.00[ASN][1000 genomes]
rs35972761	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36115605	1.00[ASN][1000 genomes]
rs3950119	1.00[ASN][1000 genomes]
rs59996315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780979	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780999	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683296	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66966060	1.00[ASN][1000 genomes]
rs67043929	1.00[ASN][1000 genomes]
rs67300695	1.00[ASN][1000 genomes]
rs67354439	1.00[ASN][1000 genomes]
rs67511232	1.00[ASN][1000 genomes]
rs71652539	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72721041	1.00[ASN][1000 genomes]
rs7511890	1.00[ASN][1000 genomes]
rs7525880	1.00[ASN][1000 genomes]
rs7531106	1.00[ASN][1000 genomes]
rs7543098	1.00[ASN][1000 genomes]
rs7543763	1.00[ASN][1000 genomes]
rs7553185	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555302	1.00[ASN][1000 genomes]
rs761802	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12760092	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
2	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:94088600-94118800	Weak transcription	Gastric	stomach
4	chr1:94091600-94107600	Weak transcription	Ovary	ovary
5	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
6	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
7	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:94097400-94108600	Strong transcription	NHEK	skin
10	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
12	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
16	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:94102000-94107400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:94102000-94107800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94102000-94107800	Strong transcription	HSMM	muscle
20	chr1:94102000-94108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:94102000-94108000	Weak transcription	Spleen	Spleen
22	chr1:94102000-94108600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:94102000-94108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:94102000-94117200	Weak transcription	Lung	lung
25	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
26	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
27	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:94102400-94107200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:94102600-94107400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:94102600-94114200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:94102800-94108200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:94103800-94108600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:94104200-94108600	Strong transcription	HUVEC	blood vessel
38	chr1:94104400-94107600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:94104400-94107600	Weak transcription	GM12878-XiMat	blood
40	chr1:94104400-94107800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:94104400-94108400	Strong transcription	NHLF	lung
42	chr1:94104600-94107000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:94104800-94117600	Weak transcription	HepG2	liver
44	chr1:94105000-94107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:94105000-94108000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:94105000-94108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:94105000-94108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:94105000-94108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:94105000-94108200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:94105000-94108200	Strong transcription	Hela-S3	cervix

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