Variant report

Variant	rs10129588
Chromosome Location	chr14:35043796-35043797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35022324..35025884-chr14:35039151..35046276,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10130504	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134817	0.85[EUR][1000 genomes]
rs10134991	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145193	0.81[EUR][1000 genomes]
rs10151057	0.81[EUR][1000 genomes]
rs10151255	0.80[EUR][1000 genomes]
rs10151653	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151959	0.81[EUR][1000 genomes]
rs10431614	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11156848	0.96[ASN][1000 genomes]
rs11622002	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11847241	0.81[EUR][1000 genomes]
rs11847568	0.81[EUR][1000 genomes]
rs11850430	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12431530	0.89[ASN][1000 genomes]
rs12879294	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881595	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688993	0.88[EUR][1000 genomes]
rs34755567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34939235	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35239119	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36068893	0.81[EUR][1000 genomes]
rs3809450	0.81[EUR][1000 genomes]
rs3809451	0.81[EUR][1000 genomes]
rs3958	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4268668	0.86[EUR][1000 genomes]
rs4312221	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4347522	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982192	0.81[EUR][1000 genomes]
rs4982194	0.81[EUR][1000 genomes]
rs4982195	0.81[EUR][1000 genomes]
rs4982196	0.81[EUR][1000 genomes]
rs61553463	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979724	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6571665	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650498	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7144356	0.81[EUR][1000 genomes]
rs7144711	0.82[EUR][1000 genomes]
rs7151282	0.84[EUR][1000 genomes]
rs7153918	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157392	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161203	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161260	0.81[EUR][1000 genomes]
rs8014673	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014739	0.81[EUR][1000 genomes]
rs8021267	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652316	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv977453	chr14:35038000-35045031	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr14:35024200-35046200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:35024400-35053600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35024400-35056800	Weak transcription	Small Intestine	intestine
4	chr14:35024400-35060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:35024400-35066200	Weak transcription	Stomach Mucosa	stomach
6	chr14:35031400-35047400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:35031400-35052600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:35031400-35073400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:35031400-35073400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:35031400-35078000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:35031600-35044000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr14:35031600-35045000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:35031600-35045200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:35031600-35045200	Strong transcription	Placenta	Placenta
15	chr14:35031600-35047200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:35031600-35049800	Strong transcription	Osteobl	bone
17	chr14:35031600-35050600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:35031600-35055800	Strong transcription	Liver	Liver
19	chr14:35031600-35059600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35031600-35074000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:35031600-35074000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:35031600-35079400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:35031800-35044800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:35031800-35044800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:35031800-35045000	Strong transcription	Dnd41	blood
26	chr14:35031800-35063400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:35032000-35043800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:35032000-35043800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:35032000-35043800	Strong transcription	Fetal Intestine Large	intestine
30	chr14:35032000-35043800	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:35032000-35043800	Strong transcription	Thymus	Thymus
32	chr14:35032000-35044400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:35032000-35045000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:35032000-35056000	Strong transcription	Fetal Thymus	thymus
35	chr14:35032000-35072600	Strong transcription	Fetal Intestine Small	intestine
36	chr14:35032000-35072600	Strong transcription	Fetal Stomach	stomach
37	chr14:35032000-35078200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:35032000-35078600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:35032200-35061600	Weak transcription	Fetal Heart	heart
40	chr14:35032200-35080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:35032400-35055000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:35033000-35045400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:35033000-35079000	Strong transcription	HepG2	liver
44	chr14:35033200-35061600	Weak transcription	Psoas Muscle	Psoas
45	chr14:35033400-35044600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:35034400-35043800	Strong transcription	Left Ventricle	heart
47	chr14:35034600-35044000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:35034600-35044800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:35034800-35047400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:35035400-35043800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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