Variant report

Variant	rs12698818
Chromosome Location	chr7:69401395-69401396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12698809	0.81[ASN][1000 genomes]
rs12698810	0.81[ASN][1000 genomes]
rs12698821	0.85[ASN][1000 genomes]
rs12698823	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698824	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698827	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698828	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698829	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698831	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12698832	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12698833	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698854	0.83[ASN][1000 genomes]
rs12698860	0.83[ASN][1000 genomes]
rs12698863	0.85[ASN][1000 genomes]
rs13221186	0.85[ASN][1000 genomes]
rs13221694	0.88[ASN][1000 genomes]
rs13224557	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227197	0.83[ASN][1000 genomes]
rs13228686	0.83[ASN][1000 genomes]
rs13229256	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238398	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71535673	0.83[ASN][1000 genomes]
rs71535674	0.81[ASN][1000 genomes]
rs7785360	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788868	0.83[ASN][1000 genomes]
rs7789364	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	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
12	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
13	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69377800-69402000	Weak transcription	Ovary	ovary
2	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:69393800-69403200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:69397200-69401800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69397200-69402000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69398600-69402000	Enhancers	Brain Substantia Nigra	brain
8	chr7:69399600-69401400	Enhancers	GM12878-XiMat	blood
9	chr7:69399800-69402000	Weak transcription	Fetal Lung	lung
10	chr7:69399800-69402400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69400000-69402800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:69400000-69405800	Weak transcription	Psoas Muscle	Psoas
13	chr7:69400200-69402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:69400200-69402000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:69400200-69402200	Weak transcription	Fetal Stomach	stomach
16	chr7:69400200-69406000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:69400400-69401800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:69400400-69401800	Weak transcription	Fetal Brain Female	brain
19	chr7:69400400-69403000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:69400400-69406000	Weak transcription	Fetal Brain Male	brain
21	chr7:69400800-69402000	Weak transcription	Brain Germinal Matrix	brain
22	chr7:69400800-69402600	Weak transcription	Thymus	Thymus
23	chr7:69401000-69402000	Weak transcription	Fetal Thymus	thymus
24	chr7:69401000-69406000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:69401000-69406000	Weak transcription	Brain Anterior Caudate	brain
26	chr7:69401200-69401600	Weak transcription	Fetal Heart	heart
27	chr7:69401200-69402200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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