Variant report

Variant	rs5005279
Chromosome Location	chr7:69067257-69067258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000234215	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11983891	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12333508	0.82[EUR][1000 genomes]
rs12671695	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468588	0.82[EUR][1000 genomes]
rs1860488	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1985165	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2098116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs210591	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210593	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210596	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210599	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210601	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210604	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210606	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2533426	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533427	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533428	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533429	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533430	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533431	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533433	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533435	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533440	0.81[EUR][1000 genomes]
rs2533441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533442	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533446	0.81[EUR][1000 genomes]
rs2533448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533449	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533454	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533455	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533457	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533458	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851483	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851484	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851487	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851490	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851491	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851492	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851496	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851497	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851498	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851500	0.82[EUR][1000 genomes]
rs2851501	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2851504	0.82[EUR][1000 genomes]
rs2851505	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851506	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851512	0.82[EUR][1000 genomes]
rs2851513	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851514	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851515	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851516	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2865116	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3886905	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41849	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41852	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41856	0.81[ASN][1000 genomes]
rs4717520	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs505949	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs513150	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532820	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs547630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56302473	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565505	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs576193	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs576293	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs585282	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs589983	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs590609	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs593063	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs595681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs610930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61135042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs626767	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs627981	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs645245	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6460523	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs646233	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs649200	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6944645	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6974900	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs720056	0.82[EUR][1000 genomes]
rs7786584	0.81[ASN][1000 genomes]
rs981291	0.82[EUR][1000 genomes]
rs988282	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69065400-69069600	Weak transcription	Spleen	Spleen
2	chr7:69065400-69071600	Weak transcription	Aorta	Aorta
3	chr7:69065800-69067400	Enhancers	Fetal Heart	heart
4	chr7:69066000-69068200	Weak transcription	Fetal Kidney	kidney
5	chr7:69066000-69069800	Enhancers	Fetal Intestine Small	intestine
6	chr7:69066400-69067600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:69066400-69068200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:69066400-69068400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:69066600-69067400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:69066600-69067800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:69066600-69068800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:69066600-69068800	Enhancers	Brain Substantia Nigra	brain
13	chr7:69066600-69069600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:69066600-69070200	Weak transcription	Left Ventricle	heart
15	chr7:69066600-69071200	Enhancers	Fetal Lung	lung
16	chr7:69066600-69079600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:69066800-69067600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:69066800-69067800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:69066800-69067800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:69066800-69068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:69066800-69068000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:69066800-69068800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:69066800-69069000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:69066800-69069200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:69066800-69069200	Enhancers	Brain Angular Gyrus	brain
26	chr7:69066800-69069400	Enhancers	Colon Smooth Muscle	Colon
27	chr7:69066800-69069600	Weak transcription	Ovary	ovary
28	chr7:69066800-69070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:69066800-69072000	Enhancers	Fetal Brain Male	brain
30	chr7:69066800-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:69066800-69084600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:69067000-69067400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:69067000-69067400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:69067000-69067400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:69067000-69067400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:69067000-69067400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:69067000-69067400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:69067000-69067400	Active TSS	Fetal Brain Female	brain
39	chr7:69067000-69067400	Active TSS	GM12878-XiMat	blood
40	chr7:69067000-69067600	Enhancers	Dnd41	blood
41	chr7:69067000-69068000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:69067000-69068600	Enhancers	Brain Germinal Matrix	brain
43	chr7:69067000-69069000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:69067000-69069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:69067000-69069600	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:69067000-69070000	Weak transcription	Right Atrium	heart
47	chr7:69067000-69070800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:69067000-69073000	Weak transcription	Psoas Muscle	Psoas
49	chr7:69067200-69067600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:69067200-69067600	Weak transcription	Fetal Stomach	stomach

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