Variant report

Variant	rs72670399
Chromosome Location	chr14:31674389-31674390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11620816	0.96[EUR][1000 genomes]
rs11622403	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11625570	1.00[EUR][1000 genomes]
rs11625798	0.97[EUR][1000 genomes]
rs11626343	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11845860	0.96[EUR][1000 genomes]
rs11848094	0.91[EUR][1000 genomes]
rs11848563	0.96[EUR][1000 genomes]
rs17097735	0.94[EUR][1000 genomes]
rs17097741	0.93[EUR][1000 genomes]
rs17097743	0.94[EUR][1000 genomes]
rs34039100	0.84[EUR][1000 genomes]
rs34684806	0.97[EUR][1000 genomes]
rs34745649	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3954287	0.91[EUR][1000 genomes]
rs45610935	0.85[EUR][1000 genomes]
rs56168081	0.93[EUR][1000 genomes]
rs56346233	0.93[EUR][1000 genomes]
rs57000706	0.93[EUR][1000 genomes]
rs57893693	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58071351	0.93[EUR][1000 genomes]
rs58204331	0.94[EUR][1000 genomes]
rs58771204	0.85[EUR][1000 genomes]
rs59458716	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59933112	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60350855	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60928004	0.93[EUR][1000 genomes]
rs61592116	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66528205	0.91[EUR][1000 genomes]
rs67960414	0.93[EUR][1000 genomes]
rs72670334	0.83[EUR][1000 genomes]
rs72670351	0.93[EUR][1000 genomes]
rs72670364	0.93[EUR][1000 genomes]
rs72670371	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670374	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670375	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670377	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72670385	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72670390	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72670391	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670396	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670398	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9888564	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31637200-31675000	Weak transcription	Gastric	stomach
2	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
3	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
4	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
6	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
9	chr14:31651000-31674800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:31654400-31674800	Weak transcription	Colonic Mucosa	Colon
11	chr14:31655000-31674400	Weak transcription	Fetal Brain Female	brain
12	chr14:31660200-31675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:31660800-31675000	Weak transcription	Fetal Thymus	thymus
14	chr14:31664400-31674800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:31664400-31675000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:31665200-31675000	Weak transcription	Small Intestine	intestine
17	chr14:31665400-31674800	Weak transcription	Aorta	Aorta
18	chr14:31665400-31675000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31665600-31674800	Weak transcription	HSMMtube	muscle
20	chr14:31666400-31675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:31666600-31674800	Weak transcription	Right Ventricle	heart
22	chr14:31666800-31674800	Weak transcription	Ovary	ovary
23	chr14:31667200-31674400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:31667200-31674400	Weak transcription	Stomach Mucosa	stomach
25	chr14:31667200-31674400	Weak transcription	Hela-S3	cervix
26	chr14:31669400-31675000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:31669600-31674400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:31669600-31674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:31669800-31675000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:31670000-31675000	Weak transcription	Lung	lung
31	chr14:31670000-31675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:31670200-31674800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:31671200-31674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:31671600-31674400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:31672400-31675000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:31672800-31674400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:31672800-31674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:31672800-31674400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:31672800-31674400	Weak transcription	Psoas Muscle	Psoas
40	chr14:31672800-31674400	Weak transcription	HSMM	muscle
41	chr14:31672800-31674600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:31672800-31674800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:31672800-31674800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:31672800-31674800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:31672800-31674800	Weak transcription	Placenta	Placenta
46	chr14:31672800-31675000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:31672800-31675000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:31673000-31674400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:31673000-31675000	Weak transcription	Left Ventricle	heart
50	chr14:31673400-31674400	Weak transcription	Fetal Intestine Large	intestine

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