Variant report

Variant	rs6950987
Chromosome Location	chr7:79085982-79085983
allele	C/T
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	POLR2A	chr7:79085294-79086003	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:79085147-79086117	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
MAGI2	TF binding region
MAGI2-AS3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1017037	0.96[ASN][1000 genomes]
rs1034797	0.96[ASN][1000 genomes]
rs17152543	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17152573	0.92[ASN][1000 genomes]
rs17152586	0.90[ASN][1000 genomes]
rs56234137	0.95[ASN][1000 genomes]
rs59968994	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60059862	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60262438	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6949250	0.91[ASN][1000 genomes]
rs73149310	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73149323	0.92[ASN][1000 genomes]
rs73149326	0.92[ASN][1000 genomes]
rs7808217	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs980354	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79081400-79086200	Active TSS	Fetal Kidney	kidney
2	chr7:79084000-79086000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:79084200-79091200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:79084400-79086000	Weak transcription	Fetal Brain Male	brain
5	chr7:79084400-79086200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:79084400-79086200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:79084400-79088200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:79084400-79089000	Weak transcription	NH-A	brain
9	chr7:79084400-79095000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:79084400-79102200	Weak transcription	Left Ventricle	heart
11	chr7:79084600-79101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:79084800-79086000	Enhancers	Right Atrium	heart
13	chr7:79084800-79086000	Transcr. at gene 5' and 3'	NHLF	lung
14	chr7:79084800-79086600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:79084800-79087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:79084800-79087600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:79084800-79091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:79084800-79100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:79084800-79102800	Weak transcription	HSMM	muscle
20	chr7:79085000-79086200	Strong transcription	HUVEC	blood vessel
21	chr7:79085000-79086400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:79085000-79086600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:79085000-79086600	Enhancers	Brain Angular Gyrus	brain
24	chr7:79085000-79086600	Enhancers	Brain Anterior Caudate	brain
25	chr7:79085000-79086600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:79085000-79086600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:79085000-79087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:79085000-79087400	Weak transcription	HSMMtube	muscle
29	chr7:79085000-79087800	Weak transcription	Right Ventricle	heart
30	chr7:79085000-79087800	Enhancers	HepG2	liver
31	chr7:79085000-79088800	Weak transcription	Fetal Brain Female	brain
32	chr7:79085000-79089000	Weak transcription	Fetal Heart	heart
33	chr7:79085000-79090400	Weak transcription	Lung	lung
34	chr7:79085000-79098600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:79085000-79099600	Weak transcription	Fetal Stomach	stomach
36	chr7:79085200-79086000	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr7:79085200-79088000	Genic enhancers	Osteobl	bone
38	chr7:79085200-79089000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:79085200-79091800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:79085400-79086000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:79085400-79086000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:79085400-79086400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:79085400-79086600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr7:79085400-79087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:79085400-79088000	Genic enhancers	Ovary	ovary
46	chr7:79085600-79086600	Genic enhancers	Colon Smooth Muscle	Colon
47	chr7:79085600-79088200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:79085800-79086000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:79085800-79086200	Enhancers	Brain Substantia Nigra	brain
50	chr7:79085800-79086600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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