Variant report

Variant	rs12590445
Chromosome Location	chr14:78122176-78122177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:78121119-78122188	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:

Variant related genes	Relation type
COX6CP11	TF binding region
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10873310	0.88[ASN][1000 genomes]
rs11159282	0.88[ASN][1000 genomes]
rs11159285	0.92[ASN][1000 genomes]
rs12050437	0.93[ASN][1000 genomes]
rs12050439	0.93[ASN][1000 genomes]
rs12432127	0.92[ASN][1000 genomes]
rs12586560	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12590759	0.93[ASN][1000 genomes]
rs12590776	0.93[ASN][1000 genomes]
rs12879146	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12881338	0.88[ASN][1000 genomes]
rs12881530	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12886970	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889224	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12898009	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34140630	0.95[ASN][1000 genomes]
rs34567686	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35636868	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4899664	0.88[ASN][1000 genomes]
rs4903619	0.92[ASN][1000 genomes]
rs4903620	0.93[ASN][1000 genomes]
rs67838524	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71428789	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7149026	0.92[ASN][1000 genomes]
rs8004037	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	esv32836	chr14:78119497-78124958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78119600-78123200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
3	chr14:78120000-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:78120600-78123800	Enhancers	Spleen	Spleen
6	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
7	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:78120800-78124600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:78121000-78122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:78121400-78122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:78121400-78123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:78121400-78123800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:78121400-78126400	Weak transcription	Fetal Brain Male	brain
15	chr14:78121400-78126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:78121400-78126600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:78121400-78129800	Weak transcription	Right Atrium	heart
18	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:78121800-78123200	Enhancers	HepG2	liver
20	chr14:78121800-78123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:78121800-78123600	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:78121800-78126000	Weak transcription	Primary B cells from cord blood	blood
23	chr14:78121800-78126400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:78121800-78126400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:78121800-78126600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:78121800-78126600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:78121800-78126600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:78121800-78127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:78121800-78139800	Weak transcription	Gastric	stomach
30	chr14:78122000-78122400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:78122000-78123400	Weak transcription	Lung	lung
32	chr14:78122000-78124600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:78122000-78124600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:78122000-78124600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:78122000-78124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:78122000-78125000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:78122000-78126400	Weak transcription	Brain Germinal Matrix	brain
38	chr14:78122000-78126400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:78122000-78127200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:78122000-78127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:78122000-78127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
43	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea

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