Variant report

Variant	rs11982691
Chromosome Location	chr7:69159439-69159440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11971626	1.00[EUR][1000 genomes]
rs11979460	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56661227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57210197	0.82[AFR][1000 genomes]
rs59483768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60431977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60651146	0.82[AFR][1000 genomes]
rs60659484	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61510749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61745341	1.00[EUR][1000 genomes]
rs6959561	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6976556	1.00[AFR][1000 genomes];1.00[AMR][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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1034380	chr7:69137914-69171449	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69148400-69166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:69150200-69161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:69150400-69160800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:69150400-69161000	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:69150600-69162600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:69151000-69161000	Weak transcription	Right Atrium	heart
7	chr7:69151200-69161200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:69151400-69161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:69153400-69161200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:69153400-69161200	Weak transcription	Fetal Brain Female	brain
11	chr7:69153600-69167400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:69156200-69161000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:69156600-69161000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:69156600-69166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:69156800-69166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:69157000-69159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:69157000-69160600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:69157000-69161000	Weak transcription	Left Ventricle	heart
19	chr7:69157200-69160000	Weak transcription	Thymus	Thymus
20	chr7:69157200-69160200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:69157200-69167800	Weak transcription	Fetal Stomach	stomach
22	chr7:69158200-69161000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:69158600-69160600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:69158600-69160800	Enhancers	GM12878-XiMat	blood
25	chr7:69158800-69160800	Enhancers	Dnd41	blood
26	chr7:69159000-69160000	Weak transcription	Primary B cells from cord blood	blood
27	chr7:69159000-69160800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:69159200-69160800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:69159200-69161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:69159200-69167800	Weak transcription	Fetal Lung	lung
31	chr7:69159400-69163600	Enhancers	Fetal Thymus	thymus

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