Variant report

Variant	rs61592116
Chromosome Location	chr14:31634089-31634090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31632859..31634674-chr14:31887471..31889887,2	MCF-7	breast:
2	chr14:31632142..31635361-chr14:31675542..31678313,5	MCF-7	breast:
3	chr14:31633500..31636890-chr14:31639445..31642730,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000250365	Chromatin interaction

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

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

rs_ID	r²[population]
rs11620816	0.94[EUR][1000 genomes]
rs11622403	0.97[EUR][1000 genomes]
rs11625570	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11625798	0.96[EUR][1000 genomes]
rs11626343	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11845860	0.94[EUR][1000 genomes]
rs11848094	0.90[EUR][1000 genomes]
rs11848563	0.94[EUR][1000 genomes]
rs17097735	0.93[EUR][1000 genomes]
rs17097741	0.91[EUR][1000 genomes]
rs17097743	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34039100	0.83[EUR][1000 genomes]
rs34684806	0.96[EUR][1000 genomes]
rs34745649	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3954287	0.90[EUR][1000 genomes]
rs45610935	0.84[EUR][1000 genomes]
rs56168081	0.91[EUR][1000 genomes]
rs56346233	0.91[EUR][1000 genomes]
rs57000706	0.91[EUR][1000 genomes]
rs57893693	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58071351	0.91[EUR][1000 genomes]
rs58204331	0.93[EUR][1000 genomes]
rs58771204	0.84[EUR][1000 genomes]
rs59458716	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59933112	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60350855	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60928004	0.91[EUR][1000 genomes]
rs66528205	0.90[EUR][1000 genomes]
rs67960414	0.91[EUR][1000 genomes]
rs72670334	0.81[EUR][1000 genomes]
rs72670351	0.91[EUR][1000 genomes]
rs72670364	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72670371	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670374	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670375	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72670377	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670385	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670390	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72670391	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72670396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670398	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670399	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9888564	0.93[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	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
5	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr14:31567000-31651200	Strong transcription	Dnd41	blood
8	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:31598600-31635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31600600-31634400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:31600600-31649800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr14:31603800-31653400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:31605400-31635200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:31608800-31634200	Weak transcription	Aorta	Aorta
29	chr14:31609200-31648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:31610600-31647800	Strong transcription	Fetal Thymus	thymus
31	chr14:31613800-31646800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:31616000-31634400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:31620400-31635400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:31621000-31647800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:31621800-31639200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:31625000-31642200	Weak transcription	Psoas Muscle	Psoas
37	chr14:31625200-31635400	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:31626400-31634400	Weak transcription	NHEK	skin
39	chr14:31626800-31645800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:31627000-31636400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:31628000-31648400	Strong transcription	Fetal Muscle Leg	muscle
42	chr14:31628000-31648400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:31628200-31635400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:31628800-31645600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:31629000-31648400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:31629200-31634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:31629400-31634800	Strong transcription	HUVEC	blood vessel
48	chr14:31629800-31639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:31629800-31647400	Strong transcription	Primary T cells from cord blood	blood
50	chr14:31629800-31664800	Weak transcription	Right Atrium	heart

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