Variant report

Variant	rs72700176
Chromosome Location	chr14:105346632-105346633
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
2	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
3	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:
4	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
5	chr14:105232900..105235354-chr14:105346063..105347686,2	K562	blood:
6	chr14:105345637..105347359-chr14:105353237..105355891,2	MCF-7	breast:
7	chr14:105219031..105220671-chr14:105346376..105348521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099814	Chromatin interaction
ENSG00000184990	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12050087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582559	1.00[ASN][1000 genomes]
rs2841218	0.87[ASN][1000 genomes]
rs2841229	0.88[ASN][1000 genomes]
rs2841234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841279	0.81[EUR][1000 genomes]
rs3001411	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34004095	1.00[AFR][1000 genomes]
rs3742938	1.00[AFR][1000 genomes]
rs41314519	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57147900	1.00[AFR][1000 genomes]
rs57804458	1.00[AFR][1000 genomes]
rs58153756	1.00[AFR][1000 genomes]
rs58365272	1.00[AFR][1000 genomes]
rs61316883	1.00[AFR][1000 genomes]
rs61745186	1.00[AFR][1000 genomes]
rs61761195	1.00[AFR][1000 genomes]
rs67605404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144557	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700126	1.00[AFR][1000 genomes]
rs72700128	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72700150	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700170	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700172	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72700175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700183	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72700184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700189	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700192	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72700202	1.00[AFR][1000 genomes]
rs72716002	1.00[AFR][1000 genomes]
rs72718103	1.00[AFR][1000 genomes]
rs72718104	1.00[AFR][1000 genomes]
rs72718105	1.00[AFR][1000 genomes]
rs8012919	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9788596	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised 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	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
9	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised 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 miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
10	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
13	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
14	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
15	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv902417	chr14:105323300-105350355	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	esv1836173	chr14:105329195-105348552	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	esv1833606	chr14:105331150-105348552	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	esv1850310	chr14:105331150-105348552	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv566123	chr14:105331370-105347488	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv566132	chr14:105331476-105347488	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv566136	chr14:105331893-105348039	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
27	nsv566138	chr14:105340643-105350355	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	esv3355845	chr14:105344907-105349205	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105333200-105346800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:105333200-105346800	Weak transcription	A549	lung
3	chr14:105333200-105347200	Weak transcription	Left Ventricle	heart
4	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
5	chr14:105334000-105346800	Weak transcription	Brain Anterior Caudate	brain
6	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:105334400-105348600	Weak transcription	Fetal Brain Male	brain
8	chr14:105339400-105348600	Weak transcription	Fetal Kidney	kidney
9	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
10	chr14:105339600-105346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:105339600-105363000	Weak transcription	NH-A	brain
13	chr14:105340000-105346800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:105340000-105346800	Weak transcription	Fetal Lung	lung
15	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
17	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:105340200-105346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:105340200-105346800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:105340800-105348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:105340800-105349000	Weak transcription	Stomach Mucosa	stomach
22	chr14:105341200-105350400	Strong transcription	NHLF	lung
23	chr14:105341600-105348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:105342000-105347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr14:105342200-105346800	Weak transcription	HUVEC	blood vessel
26	chr14:105342200-105348400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:105342400-105348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:105342400-105348400	Strong transcription	NHEK	skin
29	chr14:105342600-105346800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:105342800-105349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:105343000-105347800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
35	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
36	chr14:105343200-105346800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:105343200-105348200	Strong transcription	Gastric	stomach
38	chr14:105343200-105348800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr14:105343200-105351800	Weak transcription	Hela-S3	cervix
40	chr14:105343400-105346800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:105343400-105347600	Strong transcription	Adipose Nuclei	Adipose
42	chr14:105343400-105347600	Strong transcription	HMEC	breast
43	chr14:105343400-105348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:105343400-105348400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr14:105343400-105350600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
47	chr14:105343600-105347200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:105343600-105347200	Strong transcription	Right Ventricle	heart
49	chr14:105343600-105347400	Strong transcription	Fetal Stomach	stomach
50	chr14:105343600-105347600	Strong transcription	Brain Germinal Matrix	brain

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