Variant report

Variant	rs12590867
Chromosome Location	chr14:31663439-31663440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31661874..31669449-chr14:31675207..31678992,11	MCF-7	breast:
2	chr14:31662501..31665350-chr14:31676259..31678758,2	MCF-7	breast:
3	chr14:31662672..31665414-chr14:31666096..31668689,4	K562	blood:
4	chr14:31662799..31666090-chr14:31674477..31678636,5	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12588474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
2	chr14:31637200-31675000	Weak transcription	Gastric	stomach
3	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
5	chr14:31643000-31664800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:31643000-31664800	Weak transcription	Psoas Muscle	Psoas
7	chr14:31643200-31663800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31643200-31664000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:31643200-31664000	Weak transcription	Fetal Heart	heart
10	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
11	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
12	chr14:31644800-31664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31644800-31664400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
16	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:31647400-31664000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:31647400-31664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:31647400-31664400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:31647400-31667200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:31647600-31665200	Weak transcription	K562	blood
23	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
24	chr14:31648200-31663800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:31648200-31664400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:31648200-31666800	Weak transcription	Brain Anterior Caudate	brain
27	chr14:31648200-31670200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:31648200-31671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:31649000-31664200	Weak transcription	HMEC	breast
30	chr14:31651000-31664400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:31651000-31674800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:31654400-31664400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:31654400-31674800	Weak transcription	Colonic Mucosa	Colon
34	chr14:31654600-31671800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:31655000-31674400	Weak transcription	Fetal Brain Female	brain
36	chr14:31655200-31666600	Weak transcription	Brain Angular Gyrus	brain
37	chr14:31656800-31669400	Weak transcription	Lung	lung
38	chr14:31657200-31663800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:31658600-31664200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:31658600-31664600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:31658800-31664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:31659000-31664000	Strong transcription	Dnd41	blood
43	chr14:31659000-31664400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:31659000-31666000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:31659000-31671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:31659200-31663600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:31659200-31664800	Weak transcription	Left Ventricle	heart
48	chr14:31659200-31665800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:31659400-31664000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:31659400-31664400	Weak transcription	Ovary	ovary

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