Variant report

Variant	rs72685223
Chromosome Location	chr14:78126839-78126840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78125349..78126859-chr14:78170133..78172097,2	K562	blood:
2	chr14:78126065..78127777-chr14:78174399..78177097,2	K562	blood:
3	chr14:78126563..78128785-chr14:78225454..78227609,2	K562	blood:

Variant related genes	Relation type
ENSG00000197734	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100603	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622176	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623898	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825434	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445066	1.00[ASN][1000 genomes]
rs28541608	1.00[ASN][1000 genomes]
rs28607620	1.00[ASN][1000 genomes]
rs28651563	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[ASN][1000 genomes]
rs55636050	1.00[ASN][1000 genomes]
rs55922310	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	1.00[ASN][1000 genomes]
rs56109335	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57615727	1.00[ASN][1000 genomes]
rs58171071	1.00[ASN][1000 genomes]
rs59200674	1.00[ASN][1000 genomes]
rs6494	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7148685	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687222	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	1.00[ASN][1000 genomes]
rs8015313	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
7	nsv9155	chr14:78118162-78133830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:78121400-78129800	Weak transcription	Right Atrium	heart
4	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:78121800-78127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:78121800-78139800	Weak transcription	Gastric	stomach
7	chr14:78122000-78127200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:78122000-78127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:78122000-78127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
11	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea
12	chr14:78122200-78127000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:78123000-78137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:78123400-78138800	Weak transcription	Liver	Liver
15	chr14:78123800-78136600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:78123800-78139000	Weak transcription	Left Ventricle	heart
17	chr14:78124000-78129400	Weak transcription	HUVEC	blood vessel
18	chr14:78125200-78127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:78125400-78127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:78125400-78127200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:78125400-78127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:78125400-78139800	Weak transcription	Right Ventricle	heart
23	chr14:78125600-78127200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:78126000-78127600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:78126400-78127000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:78126400-78127000	Enhancers	Brain Germinal Matrix	brain
27	chr14:78126400-78127400	Enhancers	HepG2	liver
28	chr14:78126400-78128000	Enhancers	Fetal Brain Male	brain
29	chr14:78126600-78127000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:78126600-78127000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:78126600-78127200	Active TSS	Brain Angular Gyrus	brain
32	chr14:78126600-78127400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:78126600-78127600	Active TSS	Brain Anterior Caudate	brain
34	chr14:78126600-78127600	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:78126600-78128000	Enhancers	Placenta	Placenta
36	chr14:78126600-78128200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:78126600-78129000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:78126600-78129400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:78126600-78130000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:78126600-78138000	Weak transcription	Primary B cells from cord blood	blood
41	chr14:78126800-78127200	Weak transcription	Lung	lung
42	chr14:78126800-78127400	Active TSS	Brain Hippocampus Middle	brain
43	chr14:78126800-78127400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:78126800-78127600	Flanking Active TSS	Fetal Brain Female	brain
45	chr14:78126800-78128200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:78126800-78138800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:78126800-78139000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:78126800-78139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:78126800-78139800	Weak transcription	Spleen	Spleen

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