Variant report

Variant	rs74061848
Chromosome Location	chr14:70014724-70014725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
2	chr14:70014454..70015116-chr14:70193405..70194292,6	K562	blood:
3	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-4	chr14:70014555-70014755	NONHSAT037529

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12100899	1.00[EUR][1000 genomes]
rs1378288	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55870632	1.00[AMR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs59840366	1.00[EUR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60876803	1.00[AMR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs7148016	1.00[AMR][1000 genomes]
rs73293362	1.00[EUR][1000 genomes]
rs73293367	1.00[EUR][1000 genomes]
rs73293376	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8011911	1.00[EUR][1000 genomes]
rs8014375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564968	chr14:70000399-70021562	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv564969	chr14:70000399-70022351	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036936	chr14:70004606-70022932	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv564971	chr14:70007215-70022404	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1037575	chr14:70012381-70022455	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv1049396	chr14:70012572-70022714	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv1045630	chr14:70012572-70022932	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv564972	chr14:70013328-70022351	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv564973	chr14:70013328-70022404	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	esv2760340	chr14:70013752-70032826	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70014000-70015000	Enhancers	Fetal Brain Male	brain
2	chr14:70014000-70015400	Active TSS	Fetal Brain Female	brain
3	chr14:70014200-70015000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:70014200-70015200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:70014200-70015200	Active TSS	Brain Germinal Matrix	brain
6	chr14:70014400-70014800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:70014400-70014800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:70014400-70014800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr14:70014400-70014800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:70014400-70014800	Active TSS	Brain Angular Gyrus	brain
11	chr14:70014400-70014800	Active TSS	Brain Anterior Caudate	brain
12	chr14:70014400-70014800	Bivalent Enhancer	Fetal Lung	lung
13	chr14:70014400-70014800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr14:70014400-70014800	Bivalent Enhancer	Psoas Muscle	Psoas
15	chr14:70014400-70015000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:70014400-70015000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:70014400-70015000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:70014400-70015000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:70014400-70015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:70014400-70015000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:70014400-70015000	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:70014400-70015000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:70014400-70015000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr14:70014400-70015000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:70014400-70015000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr14:70014400-70015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:70014400-70015000	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr14:70014400-70015000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr14:70014400-70015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:70014400-70015200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:70014400-70015200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:70014400-70015400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:70014400-70015400	Bivalent Enhancer	Placenta	Placenta
36	chr14:70014600-70014800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr14:70014600-70014800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:70014600-70014800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:70014600-70014800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr14:70014600-70014800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr14:70014600-70014800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr14:70014600-70014800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:70014600-70014800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:70014600-70014800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr14:70014600-70014800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr14:70014600-70014800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr14:70014600-70014800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr14:70014600-70014800	Bivalent Enhancer	Left Ventricle	heart
49	chr14:70014600-70014800	Flanking Active TSS	Ovary	ovary
50	chr14:70014600-70014800	Flanking Active TSS	Right Atrium	heart

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