Variant report

Variant	rs12698811
Chromosome Location	chr7:69348127-69348128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12698809	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698810	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698821	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698832	0.81[ASN][1000 genomes]
rs12698837	0.82[AMR][1000 genomes]
rs12698845	0.83[AMR][1000 genomes]
rs12698854	0.90[ASN][1000 genomes]
rs12698860	0.90[ASN][1000 genomes]
rs13221186	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13221694	0.85[ASN][1000 genomes]
rs13227197	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13228686	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34701787	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71535673	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7788868	0.90[ASN][1000 genomes]
rs7789364	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69337600-69354600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:69338400-69350600	Weak transcription	Brain Anterior Caudate	brain
4	chr7:69338400-69367200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:69343600-69350400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:69343600-69354200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:69344000-69354800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:69345400-69350600	Weak transcription	Fetal Stomach	stomach
9	chr7:69346000-69349400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69346200-69348200	Enhancers	GM12878-XiMat	blood
11	chr7:69346200-69350200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:69346400-69348600	Weak transcription	Fetal Thymus	thymus
13	chr7:69346600-69348800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:69346600-69349000	Weak transcription	Fetal Brain Female	brain
15	chr7:69346800-69354000	Weak transcription	Thymus	Thymus
16	chr7:69347400-69350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:69347600-69353800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:69347800-69348800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:69347800-69351400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:69348000-69348200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:69348000-69348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:69348000-69348600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:69348000-69348600	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:69348000-69348800	Enhancers	Fetal Muscle Leg	muscle
25	chr7:69348000-69350000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:69348000-69351200	Enhancers	Fetal Brain Male	brain

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