Variant report

Variant	rs4982257
Chromosome Location	chr14:35816451-35816452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35808792..35810743-chr14:35815553..35817945,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10140180	0.83[EUR][1000 genomes]
rs10140819	0.81[EUR][1000 genomes]
rs10141237	0.83[EUR][1000 genomes]
rs10142113	0.83[EUR][1000 genomes]
rs10144186	0.83[EUR][1000 genomes]
rs10151128	0.83[EUR][1000 genomes]
rs10467708	0.83[EUR][1000 genomes]
rs17458583	0.83[EUR][1000 genomes]
rs17597267	0.83[EUR][1000 genomes]
rs17597281	0.83[EUR][1000 genomes]
rs2277460	0.83[EUR][1000 genomes]
rs28461608	0.83[EUR][1000 genomes]
rs28522717	0.83[EUR][1000 genomes]
rs60707741	0.81[EUR][1000 genomes]
rs7140912	0.83[EUR][1000 genomes]
rs7158019	0.83[EUR][1000 genomes]
rs8012896	0.83[EUR][1000 genomes]
rs8014594	0.83[EUR][1000 genomes]
rs8017330	0.83[EUR][1000 genomes]
rs8017676	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:35811600-35816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:35811600-35816600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:35811600-35816600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:35811600-35816600	Weak transcription	Brain Germinal Matrix	brain
8	chr14:35811600-35816800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:35811800-35821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:35812000-35816600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:35812000-35816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:35812000-35816800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:35812200-35818800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:35812200-35821000	Weak transcription	Fetal Heart	heart
15	chr14:35812600-35817200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:35813200-35816800	Weak transcription	Brain Angular Gyrus	brain
17	chr14:35813400-35816600	Weak transcription	Fetal Lung	lung
18	chr14:35813400-35816800	Weak transcription	Esophagus	oesophagus
19	chr14:35813400-35820800	Weak transcription	Fetal Kidney	kidney
20	chr14:35813600-35816600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:35813600-35816600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:35813600-35816600	Weak transcription	Gastric	stomach
23	chr14:35813600-35816800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:35813600-35820800	Weak transcription	Right Atrium	heart
25	chr14:35813800-35816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:35813800-35816600	Weak transcription	Brain Substantia Nigra	brain
27	chr14:35813800-35816600	Weak transcription	Lung	lung
28	chr14:35813800-35816600	Weak transcription	Thymus	Thymus
29	chr14:35813800-35816600	Weak transcription	Spleen	Spleen
30	chr14:35813800-35816800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:35814000-35816600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:35814000-35816600	Weak transcription	Stomach Mucosa	stomach
33	chr14:35814000-35817000	Weak transcription	Primary B cells from cord blood	blood
34	chr14:35814200-35821200	Weak transcription	Primary T cells from cord blood	blood
35	chr14:35814200-35821600	Weak transcription	Colonic Mucosa	Colon
36	chr14:35814400-35816600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:35814400-35816600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:35814400-35816600	Weak transcription	Fetal Thymus	thymus
39	chr14:35814400-35816600	Weak transcription	Pancreas	Pancrea
40	chr14:35814800-35816600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:35815000-35820800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:35815200-35820800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:35816000-35816600	Enhancers	A549	lung
44	chr14:35816000-35817000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:35816000-35817200	Enhancers	Liver	Liver
46	chr14:35816000-35817400	Flanking Active TSS	HepG2	liver
47	chr14:35816000-35817600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:35816200-35816600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:35816200-35816600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35816200-35817000	Enhancers	Adipose Nuclei	Adipose

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