Variant report

Variant	rs4075343
Chromosome Location	chr1:94223501-94223502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94216403..94218714-chr1:94221933..94224075,2	MCF-7	breast:
2	chr1:94145323..94148892-chr1:94219465..94224318,4	MCF-7	breast:
3	chr1:94221637..94224412-chr1:94243135..94245798,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1004197	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164975	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs11164976	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11164979	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs11164984	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11164986	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs11165004	0.86[CHB][hapmap]
rs11165006	0.84[CHB][hapmap]
rs11165007	0.87[CHB][hapmap]
rs11165012	0.97[EUR][1000 genomes]
rs11165016	0.99[EUR][1000 genomes]
rs11800779	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12125068	0.86[CHB][hapmap]
rs12125652	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12126518	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12128353	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12129080	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12132181	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12132405	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12132569	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12132625	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12134159	0.87[CHB][hapmap]
rs12135187	0.87[CHB][hapmap]
rs12139561	0.86[CHB][hapmap]
rs12139968	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12140014	0.87[CHB][hapmap]
rs12142384	0.87[CHB][hapmap]
rs12144277	0.87[CHB][hapmap]
rs12240145	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12402802	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12404613	0.85[JPT][hapmap]
rs12405302	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12406885	0.87[CHB][hapmap]
rs12407244	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12407550	0.89[JPT][hapmap]
rs12407732	0.85[CHB][hapmap]
rs12407917	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12408089	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12408109	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12408402	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12408797	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12410342	0.85[CHB][hapmap]
rs12410985	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12410986	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12411043	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12411056	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12725087	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs12745866	0.88[JPT][hapmap]
rs12745888	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs17100392	0.86[CHB][hapmap]
rs1848	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs1852	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1980084	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs2179908	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2391313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3935320	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs3935334	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs4281327	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs4348734	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs4354545	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs4357541	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs6541395	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs6541396	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6661992	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6662311	0.97[EUR][1000 genomes]
rs6679619	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6684128	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs6684389	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs6687914	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688926	0.86[CHB][hapmap]
rs6691888	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs6692107	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs6692717	0.99[EUR][1000 genomes]
rs6702162	0.99[EUR][1000 genomes]
rs717912	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7515462	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7521365	0.99[EUR][1000 genomes]
rs7536914	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7537445	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7544883	0.86[CHB][hapmap]
rs7546315	0.87[CHB][hapmap]
rs7547179	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7552104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs960625	0.86[CHB][hapmap]
rs9729722	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4075343	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94216000-94224800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:94216400-94223800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:94216800-94224400	Weak transcription	Right Atrium	heart
4	chr1:94218000-94223800	Weak transcription	Thymus	Thymus
5	chr1:94218000-94224200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:94218800-94223600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94218800-94225200	Enhancers	NHLF	lung
8	chr1:94219600-94223800	Weak transcription	Spleen	Spleen
9	chr1:94219600-94224200	Weak transcription	Fetal Thymus	thymus
10	chr1:94219800-94223800	Enhancers	Hela-S3	cervix
11	chr1:94219800-94224800	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:94219800-94226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:94219800-94231600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94220000-94224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:94220000-94224800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
17	chr1:94220200-94224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:94220600-94223800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:94220600-94224200	Weak transcription	HSMMtube	muscle
20	chr1:94221200-94225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:94221200-94225600	Enhancers	Fetal Lung	lung
22	chr1:94221200-94226600	Enhancers	Placenta	Placenta
23	chr1:94221400-94224200	Weak transcription	NH-A	brain
24	chr1:94221400-94225600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:94221400-94225600	Genic enhancers	HMEC	breast
26	chr1:94221600-94224400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:94221800-94223600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:94221800-94223800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94222200-94224400	Weak transcription	A549	lung
30	chr1:94222200-94225000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:94222400-94224000	Enhancers	HepG2	liver
32	chr1:94222400-94224200	Weak transcription	Fetal Stomach	stomach
33	chr1:94222400-94225000	Enhancers	Fetal Muscle Leg	muscle
34	chr1:94222400-94225600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:94222400-94225800	Enhancers	Adipose Nuclei	Adipose
36	chr1:94222400-94228200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:94222600-94224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94222600-94224200	Weak transcription	HSMM	muscle
39	chr1:94222600-94225200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:94222600-94225600	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:94222600-94225600	Enhancers	Lung	lung
42	chr1:94222800-94223600	Enhancers	Brain Anterior Caudate	brain
43	chr1:94222800-94223800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:94222800-94224400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:94222800-94224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:94222800-94224800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:94222800-94225000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94223000-94224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:94223000-94224200	Weak transcription	Osteobl	bone
50	chr1:94223000-94224800	Weak transcription	Psoas Muscle	Psoas

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