Variant report

Variant	rs73291685
Chromosome Location	chr14:39961395-39961396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17109174	0.97[AFR][1000 genomes]
rs17109188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109331	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56859252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57012657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57430547	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57569191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57600452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58889517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59546917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59597680	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59741982	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59788308	1.00[AMR][1000 genomes]
rs60601774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60921042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61176483	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61668966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277466	1.00[AMR][1000 genomes]
rs73277467	1.00[AMR][1000 genomes]
rs73277471	1.00[AMR][1000 genomes]
rs73277473	1.00[AMR][1000 genomes]
rs73277474	1.00[AMR][1000 genomes]
rs73277475	1.00[AMR][1000 genomes]
rs73277478	1.00[AMR][1000 genomes]
rs73277496	1.00[AMR][1000 genomes]
rs73277499	1.00[AMR][1000 genomes]
rs73277501	1.00[AMR][1000 genomes]
rs73279309	1.00[AMR][1000 genomes]
rs73279392	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281120	1.00[AMR][1000 genomes]
rs73283432	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283442	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287518	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287521	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287574	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293637	0.87[AFR][1000 genomes];1.00[AMR][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	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456212	chr14:39957437-40096888	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv564418	chr14:39957437-40096888	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	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	chr14:39958200-39964800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:39958200-39968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39960200-39961600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:39960200-39961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:39960200-39961800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:39960200-39962000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:39960400-39961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:39960400-39961600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:39960400-39961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:39960400-39961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:39960400-39961800	Enhancers	HSMM	muscle
12	chr14:39960400-39962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:39960600-39961400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:39960600-39961400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:39960600-39961400	Enhancers	Colon Smooth Muscle	Colon
16	chr14:39960600-39961600	Enhancers	Fetal Heart	heart
17	chr14:39960600-39961600	Enhancers	A549	lung
18	chr14:39960600-39961800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:39960600-39961800	Enhancers	Brain Anterior Caudate	brain
20	chr14:39960600-39961800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:39960600-39962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:39960600-39962000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:39960600-39962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:39960600-39962000	Enhancers	NHDF-Ad	bronchial
25	chr14:39960800-39961400	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:39960800-39961800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:39960800-39961800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:39961000-39961600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:39961000-39961600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:39961000-39962000	Enhancers	Osteobl	bone
31	chr14:39961200-39962000	Enhancers	NH-A	brain

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