Variant report

Variant	rs376056
Chromosome Location	chr1:94128023-94128024
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94125982..94128788-chr1:94135746..94137501,2	K562	blood:
2	chr1:94119490..94122947-chr1:94126117..94129381,3	K562	blood:
3	chr1:94127629..94130462-chr1:94131562..94133836,2	MCF-7	breast:
4	chr1:94126298..94128131-chr1:94145144..94148124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs236293	0.85[ASN][1000 genomes]
rs236300	0.91[ASN][1000 genomes]
rs71652539	0.80[EUR][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
rs376056	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
2	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
3	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
5	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
8	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:94117400-94128800	Weak transcription	Spleen	Spleen
10	chr1:94117600-94128200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:94119600-94128800	Weak transcription	Lung	lung
12	chr1:94119800-94128800	Weak transcription	Gastric	stomach
13	chr1:94120000-94128800	Weak transcription	Right Atrium	heart
14	chr1:94120600-94128800	Weak transcription	Psoas Muscle	Psoas
15	chr1:94123200-94128800	Weak transcription	Pancreas	Pancrea
16	chr1:94123200-94135800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:94125400-94128800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:94126000-94128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:94126200-94128600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:94126200-94128800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:94126200-94131200	Enhancers	Placenta	Placenta
22	chr1:94126200-94134600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:94126400-94129400	Weak transcription	Stomach Mucosa	stomach
24	chr1:94126800-94129800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:94127000-94129000	Enhancers	HepG2	liver
26	chr1:94127000-94132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:94127000-94133600	Enhancers	Ovary	ovary
28	chr1:94127200-94128600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:94127200-94128600	Flanking Active TSS	HSMMtube	muscle
30	chr1:94127200-94129000	Enhancers	NHLF	lung
31	chr1:94127200-94129400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:94127200-94134000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:94127400-94128200	Flanking Active TSS	A549	lung
34	chr1:94127400-94128400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:94127400-94128400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:94127400-94128400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:94127400-94128800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94127400-94128800	Enhancers	Brain Hippocampus Middle	brain
39	chr1:94127400-94128800	Enhancers	Brain Substantia Nigra	brain
40	chr1:94127400-94128800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:94127400-94128800	Enhancers	HUVEC	blood vessel
42	chr1:94127400-94128800	Flanking Active TSS	NH-A	brain
43	chr1:94127400-94129000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:94127400-94129000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:94127400-94129400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:94127400-94129400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:94127400-94129800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94127400-94130400	Genic enhancers	NHEK	skin
49	chr1:94127400-94130600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:94127400-94130600	Enhancers	Fetal Intestine Small	intestine

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