Variant report

Variant	rs7521365
Chromosome Location	chr1:94306297-94306298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94304960..94306492-chr1:94311503..94313752,2	MCF-7	breast:
2	chr1:94305920..94308190-chr1:94310212..94314009,5	K562	blood:
3	chr1:94305622..94309090-chr1:94310383..94313235,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1004197	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11165012	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165016	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125652	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2179908	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391313	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075343	0.99[EUR][1000 genomes]
rs6541396	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661992	0.95[EUR][1000 genomes]
rs6662311	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679619	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687914	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6692717	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702162	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515462	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7536914	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7537445	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7547179	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7552104	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9729722	0.99[EUR][1000 genomes];0.85[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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7521365	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
4	chr1:94295400-94310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:94298200-94307000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:94299000-94308600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94299400-94310200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:94300600-94309400	Weak transcription	Dnd41	blood
9	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:94301400-94309600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:94302200-94309600	Weak transcription	Placenta	Placenta
12	chr1:94302200-94311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:94302200-94311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:94302800-94309600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:94303200-94309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:94303200-94310200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:94303800-94306800	Weak transcription	Spleen	Spleen
18	chr1:94303800-94311600	Weak transcription	Gastric	stomach
19	chr1:94304000-94311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:94304200-94311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:94304400-94310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:94304600-94306400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94304800-94306400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:94304800-94306400	Enhancers	NHLF	lung
25	chr1:94304800-94307000	Enhancers	Hela-S3	cervix
26	chr1:94305000-94306600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:94305000-94311000	Weak transcription	Left Ventricle	heart
28	chr1:94305200-94306400	Enhancers	Osteobl	bone
29	chr1:94305200-94306800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:94305400-94309800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:94305600-94308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:94305600-94310000	Weak transcription	NHEK	skin
33	chr1:94305600-94310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:94305600-94311000	Weak transcription	HSMMtube	muscle
35	chr1:94305800-94307000	Weak transcription	NH-A	brain
36	chr1:94305800-94307200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:94305800-94307400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:94305800-94308000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:94305800-94308000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:94305800-94308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:94305800-94309800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:94305800-94309800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:94305800-94310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:94305800-94311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:94306000-94307200	Weak transcription	NHDF-Ad	bronchial
46	chr1:94306000-94308000	Weak transcription	HSMM	muscle
47	chr1:94306000-94309000	Weak transcription	A549	lung
48	chr1:94306000-94309600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:94306000-94309600	Weak transcription	Fetal Stomach	stomach
50	chr1:94306200-94307000	Strong transcription	Fetal Muscle Trunk	muscle

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