Variant report

Variant	rs4479126
Chromosome Location	chr14:35091443-35091444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35090867..35093292-chr14:35095702..35100762,5	MCF-7	breast:
2	chr14:35062591..35065493-chr14:35091107..35093912,2	K562	blood:
3	chr14:35089242..35092550-chr14:35095898..35099588,3	K562	blood:
4	chr14:35089260..35092373-chr14:35092594..35095994,3	MCF-7	breast:
5	chr14:35087584..35096037-chr14:35096409..35100819,12	MCF-7	breast:
6	chr14:35090354..35093574-chr14:35095898..35099059,4	K562	blood:

Variant related genes	Relation type
ENSG00000129515	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10145193	0.88[EUR][1000 genomes]
rs10151057	0.88[EUR][1000 genomes]
rs10151255	0.88[EUR][1000 genomes]
rs10151959	0.89[EUR][1000 genomes]
rs10431614	0.82[EUR][1000 genomes]
rs10872888	0.86[EUR][1000 genomes]
rs10872889	0.84[EUR][1000 genomes]
rs11156851	0.89[EUR][1000 genomes]
rs11622002	0.85[ASN][1000 genomes]
rs11847241	0.89[EUR][1000 genomes]
rs11847568	0.90[EUR][1000 genomes]
rs12879294	0.83[EUR][1000 genomes]
rs35239119	0.82[EUR][1000 genomes]
rs36068893	0.88[EUR][1000 genomes]
rs3809450	0.89[EUR][1000 genomes]
rs3809451	0.89[EUR][1000 genomes]
rs3809452	0.88[EUR][1000 genomes]
rs3923104	0.87[EUR][1000 genomes]
rs3958	0.88[EUR][1000 genomes]
rs4312221	0.89[EUR][1000 genomes]
rs4347522	0.83[EUR][1000 genomes]
rs4982192	0.89[EUR][1000 genomes]
rs4982194	0.89[EUR][1000 genomes]
rs4982195	0.89[EUR][1000 genomes]
rs4982196	0.89[EUR][1000 genomes]
rs61553463	0.83[EUR][1000 genomes]
rs61979724	0.81[EUR][1000 genomes]
rs6650498	0.82[EUR][1000 genomes]
rs7144356	0.88[EUR][1000 genomes]
rs7161203	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7161260	0.88[EUR][1000 genomes]
rs9652316	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:35070200-35091800	Weak transcription	Psoas Muscle	Psoas
6	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:35073400-35091800	Weak transcription	Fetal Brain Male	brain
8	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:35074200-35091800	Weak transcription	K562	blood
10	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
11	chr14:35077000-35091800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:35077000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
14	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
15	chr14:35077600-35091800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:35077600-35091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:35077600-35092200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
20	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:35078000-35091800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:35078000-35091800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:35078000-35092200	Weak transcription	Small Intestine	intestine
25	chr14:35078000-35098000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:35078000-35098000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:35078000-35098200	Weak transcription	Ovary	ovary
28	chr14:35078200-35098600	Weak transcription	Gastric	stomach
29	chr14:35078400-35092200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:35079400-35097800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:35080200-35092400	Strong transcription	Fetal Stomach	stomach
32	chr14:35081200-35095200	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:35081200-35097000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:35081600-35093800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:35082200-35091800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:35082200-35094400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:35082600-35091800	Weak transcription	Liver	Liver
38	chr14:35083600-35091800	Weak transcription	Fetal Brain Female	brain
39	chr14:35083800-35092000	Weak transcription	Brain Germinal Matrix	brain
40	chr14:35084600-35092600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:35085000-35092000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:35085400-35093000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:35085400-35097800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:35085600-35092000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:35085600-35098000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:35086000-35095800	Strong transcription	HepG2	liver
47	chr14:35086200-35091800	Weak transcription	GM12878-XiMat	blood
48	chr14:35086200-35097600	Weak transcription	Lung	lung
49	chr14:35086400-35091800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35086600-35092000	Weak transcription	HMEC	breast

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