Variant report

Variant	rs12698837
Chromosome Location	chr7:69492475-69492476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12669460	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674397	0.84[ASN][1000 genomes]
rs12698811	0.82[AMR][1000 genomes]
rs12698821	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12698827	0.83[EUR][1000 genomes]
rs12698828	0.80[EUR][1000 genomes]
rs12698829	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698833	0.80[EUR][1000 genomes]
rs12698845	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698852	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698854	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12698860	0.88[EUR][1000 genomes]
rs12698868	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698874	0.84[ASN][1000 genomes]
rs12698878	0.85[EUR][1000 genomes]
rs13227197	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13228686	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13230441	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13238398	0.80[EUR][1000 genomes]
rs17141190	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34215431	0.88[ASN][1000 genomes]
rs34701787	0.82[AMR][1000 genomes]
rs6460540	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs71535673	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71535674	0.87[EUR][1000 genomes]
rs7782663	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7788868	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1028705	chr7:69453983-69524628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69477200-69507600	Weak transcription	Right Atrium	heart
2	chr7:69479800-69494000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:69483400-69495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69486400-69494000	Enhancers	Fetal Heart	heart
5	chr7:69487000-69495800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:69487000-69496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:69487000-69497600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:69489400-69495000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:69489600-69495200	Enhancers	Thymus	Thymus
10	chr7:69490400-69495400	Enhancers	Fetal Thymus	thymus
11	chr7:69491000-69492600	Enhancers	Right Ventricle	heart
12	chr7:69491000-69494000	Enhancers	Dnd41	blood
13	chr7:69491200-69493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:69491400-69493000	Weak transcription	Fetal Brain Male	brain
15	chr7:69491400-69495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:69491400-69495600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:69491400-69496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:69491400-69496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:69491600-69492600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:69491600-69493200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:69491600-69493200	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:69491600-69493200	Weak transcription	Lung	lung
23	chr7:69491600-69495800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:69491600-69495800	Weak transcription	Fetal Intestine Small	intestine
25	chr7:69491600-69496000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:69491600-69499800	Weak transcription	Left Ventricle	heart
27	chr7:69491800-69494400	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:69492000-69493800	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:69492000-69495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:69492400-69493200	Enhancers	Fetal Lung	lung

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