Variant report

Variant	rs6946712
Chromosome Location	chr7:141056255-141056256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10229879	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10245819	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10253128	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10274567	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1859575	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107944	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55728485	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55996608	0.90[ASN][1000 genomes]
rs6964699	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978289	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831160	chr7:141009011-141188046	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3428582	chr7:141013551-141064197	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv34135	chr7:141047454-141492898	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:141053000-141059600	Enhancers	Fetal Lung	lung
2	chr7:141053800-141056400	Enhancers	HUVEC	blood vessel
3	chr7:141053800-141056600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:141054200-141056800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:141054200-141056800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:141054400-141062000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:141054800-141061200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:141055000-141056800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:141055000-141060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:141055000-141062200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:141055200-141057800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:141055200-141061600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:141055200-141062400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:141055200-141065600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:141055400-141058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:141055400-141060200	Weak transcription	Left Ventricle	heart
17	chr7:141055400-141060400	Weak transcription	Fetal Brain Female	brain
18	chr7:141055400-141061200	Weak transcription	HMEC	breast
19	chr7:141055400-141062400	Weak transcription	Right Atrium	heart
20	chr7:141055400-141062600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:141055400-141065800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:141055400-141065800	Weak transcription	Brain Germinal Matrix	brain
23	chr7:141055600-141056600	Weak transcription	HSMM	muscle
24	chr7:141055600-141060000	Weak transcription	HSMMtube	muscle
25	chr7:141055600-141060200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:141055600-141061600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:141055600-141061800	Weak transcription	NH-A	brain
28	chr7:141055600-141062600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:141055800-141060800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:141055800-141062600	Weak transcription	Psoas Muscle	Psoas
31	chr7:141056200-141056600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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