Variant report

Variant	rs72700187
Chromosome Location	chr14:105348770-105348771
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
2	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
3	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
4	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
5	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
6	chr14:105247569..105249557-chr14:105347096..105349716,2	K562	blood:
7	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
8	chr14:105329866..105333084-chr14:105347618..105350775,5	MCF-7	breast:
9	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:
10	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099814	Chromatin interaction

Extended variants
information (count: 60 )
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]
rs72700176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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:21 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv566140	chr14:105347488-105359556	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
2	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
4	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:105339600-105363000	Weak transcription	NH-A	brain
6	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
8	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:105340800-105348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:105340800-105349000	Weak transcription	Stomach Mucosa	stomach
11	chr14:105341200-105350400	Strong transcription	NHLF	lung
12	chr14:105342800-105349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
17	chr14:105343200-105348800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:105343200-105351800	Weak transcription	Hela-S3	cervix
19	chr14:105343400-105350600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
21	chr14:105343600-105350600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:105343600-105350600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:105343800-105356200	Strong transcription	Lung	lung
25	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
26	chr14:105344400-105350400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:105345000-105349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:105345000-105353200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:105345800-105349400	Weak transcription	Osteobl	bone
30	chr14:105346600-105356000	Strong transcription	Ovary	ovary
31	chr14:105346800-105348800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:105346800-105350000	Genic enhancers	Esophagus	oesophagus
33	chr14:105347200-105349200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:105347200-105349400	Enhancers	Fetal Muscle Leg	muscle
35	chr14:105347200-105351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:105347200-105351800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:105347400-105348800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:105347400-105349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:105347400-105349000	Weak transcription	Brain Anterior Caudate	brain
40	chr14:105347400-105349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105347400-105349200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:105347400-105349200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:105347400-105349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:105347400-105349400	Weak transcription	Spleen	Spleen
45	chr14:105347400-105349600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:105347400-105349600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:105347400-105349600	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:105347400-105349600	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:105347400-105349600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:105347400-105349600	Weak transcription	HUVEC	blood vessel

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