Variant report

Variant	rs28609318
Chromosome Location	chr14:21725380-21725381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
2	chr14:21725191..21730004-chr14:21826474..21830888,4	K562	blood:
3	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148570	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148682	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850109	1.00[AMR][1000 genomes]
rs17092556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1957415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9322956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv541981	chr14:21676221-21727801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
18	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
20	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
21	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
24	nsv541985	chr14:21692703-21727801	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
25	nsv541986	chr14:21692703-21735893	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv541987	chr14:21692703-21742729	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv541988	chr14:21696056-21735893	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv541989	chr14:21696056-21742729	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	esv3357025	chr14:21702262-21737534	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
30	nsv541990	chr14:21702771-21757737	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:21699800-21727000	Weak transcription	Fetal Brain Male	brain
5	chr14:21700800-21725600	Strong transcription	Fetal Thymus	thymus
6	chr14:21702200-21735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:21705800-21727200	Weak transcription	Aorta	Aorta
8	chr14:21707200-21726800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:21710200-21730000	Strong transcription	Fetal Intestine Small	intestine
10	chr14:21710400-21732000	Strong transcription	Fetal Intestine Large	intestine
11	chr14:21711600-21727000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:21713000-21727000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:21713600-21725800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:21713600-21726800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:21714600-21728000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:21718800-21726800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:21719200-21726600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:21719800-21727200	Weak transcription	Right Ventricle	heart
19	chr14:21720400-21733600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr14:21720600-21732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:21720800-21730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:21721800-21725800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:21721800-21725800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:21722200-21728200	Genic enhancers	Liver	Liver
25	chr14:21722600-21728800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:21722600-21730000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:21723200-21725600	Strong transcription	Fetal Brain Female	brain
28	chr14:21723200-21727000	Strong transcription	K562	blood
29	chr14:21723200-21728000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:21723200-21730600	Genic enhancers	HepG2	liver
31	chr14:21723400-21725600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:21723400-21727200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:21723400-21727200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:21723400-21727600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
35	chr14:21723400-21731000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:21723400-21731800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:21723600-21725400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:21723600-21726200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:21723600-21726800	Enhancers	Adipose Nuclei	Adipose
40	chr14:21723600-21727200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:21723600-21727600	Genic enhancers	Fetal Lung	lung
42	chr14:21723600-21727800	Genic enhancers	NH-A	brain
43	chr14:21723600-21728000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:21723600-21728000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:21723600-21728000	Genic enhancers	Brain Anterior Caudate	brain
46	chr14:21723600-21728000	Strong transcription	Fetal Kidney	kidney
47	chr14:21723600-21728000	Genic enhancers	Hela-S3	cervix
48	chr14:21723600-21728000	Genic enhancers	Osteobl	bone
49	chr14:21723600-21729200	Genic enhancers	Dnd41	blood
50	chr14:21723600-21730600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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