Variant report

Variant	rs12434523
Chromosome Location	chr14:34999048-34999049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34996976..35002931-chr14:35005430..35010920,7	MCF-7	breast:
2	chr14:34997979..35000890-chr14:35004002..35008014,4	K562	blood:
3	chr14:34998512..35003069-chr14:35021669..35025917,5	MCF-7	breast:
4	chr14:34997304..35000255-chr14:35008172..35010280,2	K562	blood:

Variant related genes	Relation type
ENSG00000206588	Chromatin interaction
ENSG00000129518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12050290	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588228	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12588878	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12589576	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12590563	0.80[AFR][1000 genomes]
rs12878854	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882703	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894795	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895007	0.80[AFR][1000 genomes]
rs34356189	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34437689	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35091031	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35804665	0.83[AFR][1000 genomes]
rs4368076	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4592561	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55858014	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801633	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61979674	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61981527	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61981529	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158829	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
12	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
14	nsv9131	chr14:34993966-35002835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
2	chr14:34984600-35005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:34984800-35002600	Strong transcription	Ovary	ovary
4	chr14:34984800-35003800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:34984800-35004400	Strong transcription	Adipose Nuclei	Adipose
6	chr14:34984800-35005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:34984800-35006600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:34984800-35006800	Strong transcription	Fetal Stomach	stomach
9	chr14:34985000-35003800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:34985000-35003800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:34985000-35004000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:34985000-35004800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:34985000-35005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:34985000-35005600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:34985000-35005800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:34985000-35005800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:34985000-35005800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:34985000-35006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:34985000-35006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:34985200-35003600	Strong transcription	Brain Cingulate Gyrus	brain
21	chr14:34985200-35005400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:34985200-35005600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:34985200-35005600	Strong transcription	Liver	Liver
24	chr14:34985200-35005800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:34985200-35006600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:34985400-35002600	Strong transcription	Left Ventricle	heart
28	chr14:34985400-35003600	Strong transcription	Thymus	Thymus
29	chr14:34985400-35004000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:34985400-35006200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:34985400-35006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:34985600-35005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:34986000-35006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:34986600-35000800	Strong transcription	Dnd41	blood
35	chr14:34986600-35003600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:34986600-35004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:34987000-35003400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:34987000-35004200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:34987200-34999200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr14:34987200-34999600	Strong transcription	Fetal Lung	lung
42	chr14:34987200-35003000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:34987200-35003000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:34987200-35003200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:34987200-35004000	Strong transcription	Brain Anterior Caudate	brain
46	chr14:34987200-35005400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:34987200-35005400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:34987200-35006800	Strong transcription	Fetal Thymus	thymus
49	chr14:34987200-35007000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:34987200-35007000	Strong transcription	Fetal Muscle Trunk	muscle

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