Variant report

Variant	rs12185018
Chromosome Location	chr14:21727566-21727567
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21727224..21727734-chr6:45404153..45404890,2	NB4	blood:
2	chr14:21726630..21729193-chr14:21742611..21744564,2	MCF-7	breast:
3	chr14:21713934..21716894-chr14:21726084..21727992,2	MCF-7	breast:
4	chr14:21725191..21730004-chr14:21826474..21830888,4	K562	blood:
5	chr14:21725773..21728367-chr14:21769503..21772392,2	MCF-7	breast:
6	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
7	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
8	chr14:21725675..21728735-chr14:21786792..21790773,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction
ENSG00000092200	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10658793	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11156891	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12433536	1.00[YRI][hapmap]
rs12589290	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3790069	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7147840	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72675010	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72675015	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72675020	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72678657	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008748	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8009479	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8012227	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8016099	0.80[CEU][hapmap]

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	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21702200-21735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:21710200-21730000	Strong transcription	Fetal Intestine Small	intestine
5	chr14:21710400-21732000	Strong transcription	Fetal Intestine Large	intestine
6	chr14:21714600-21728000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:21720400-21733600	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr14:21720600-21732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21720800-21730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:21722200-21728200	Genic enhancers	Liver	Liver
11	chr14:21722600-21728800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:21722600-21730000	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr14:21723200-21728000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:21723200-21730600	Genic enhancers	HepG2	liver
15	chr14:21723400-21727600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr14:21723400-21731000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:21723400-21731800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:21723600-21727600	Genic enhancers	Fetal Lung	lung
19	chr14:21723600-21727800	Genic enhancers	NH-A	brain
20	chr14:21723600-21728000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:21723600-21728000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:21723600-21728000	Genic enhancers	Brain Anterior Caudate	brain
23	chr14:21723600-21728000	Strong transcription	Fetal Kidney	kidney
24	chr14:21723600-21728000	Genic enhancers	Hela-S3	cervix
25	chr14:21723600-21728000	Genic enhancers	Osteobl	bone
26	chr14:21723600-21729200	Genic enhancers	Dnd41	blood
27	chr14:21723600-21730600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:21723600-21731600	Genic enhancers	Primary T cells from cord blood	blood
29	chr14:21723800-21727600	Genic enhancers	Brain Hippocampus Middle	brain
30	chr14:21723800-21727600	Genic enhancers	Duodenum Mucosa	Duodenum
31	chr14:21723800-21728000	Genic enhancers	Muscle Satellite Cultured Cells	--
32	chr14:21723800-21733000	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:21723800-21734200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:21724000-21727600	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr14:21724000-21727600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:21724000-21727600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:21724000-21728000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:21724000-21728000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:21724000-21728000	Genic enhancers	NHLF	lung
40	chr14:21724000-21730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:21724000-21733800	Strong transcription	Fetal Stomach	stomach
42	chr14:21724200-21730400	Weak transcription	HSMMtube	muscle
43	chr14:21724200-21730600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:21724200-21735600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:21724400-21729200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr14:21725000-21727600	Genic enhancers	NHEK	skin
47	chr14:21725000-21728000	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:21725000-21728000	Genic enhancers	Primary hematopoietic stem cells	blood
49	chr14:21725000-21728000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:21725000-21728000	Genic enhancers	NHDF-Ad	bronchial

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