Variant report

Variant	rs13114613
Chromosome Location	chr4:54969739-54969740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54966084..54968498-chr4:54968560..54970883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180613	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12500475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13142462	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34372785	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35529982	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35638196	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35818763	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41386153	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6817230	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6842144	0.81[ASN][1000 genomes]
rs6850083	0.92[ASN][1000 genomes]
rs7695934	0.83[EUR][1000 genomes];0.90[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	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594202	chr4:54943432-55011123	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv594203	chr4:54960005-55030375	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54966000-54970400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr4:54967400-54970800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:54967600-54969800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:54968000-54970400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr4:54968200-54969800	Weak transcription	Pancreas	Pancrea
6	chr4:54968600-54969800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr4:54968600-54970200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr4:54968600-54971000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:54968800-54969800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:54968800-54970000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr4:54968800-54973000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:54969000-54969800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
13	chr4:54969000-54969800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
14	chr4:54969200-54969800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:54969200-54970200	Bivalent Enhancer	GM12878-XiMat	blood
16	chr4:54969200-54973400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:54969400-54969800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
18	chr4:54969400-54969800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:54969400-54969800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:54969400-54969800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:54969400-54969800	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr4:54969400-54969800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr4:54969400-54969800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:54969400-54969800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr4:54969400-54969800	Bivalent Enhancer	HUVEC	blood vessel
26	chr4:54969400-54970000	Bivalent Enhancer	Brain Hippocampus Middle	brain
27	chr4:54969400-54970200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
28	chr4:54969400-54970400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:54969400-54970400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr4:54969400-54970400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr4:54969400-54970400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr4:54969400-54970400	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr4:54969400-54970600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:54969400-54970600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr4:54969400-54970600	Bivalent Enhancer	Fetal Heart	heart
36	chr4:54969400-54970600	Bivalent Enhancer	Placenta	Placenta
37	chr4:54969400-54970800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr4:54969600-54969800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr4:54969600-54969800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr4:54969600-54969800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:54969600-54969800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:54969600-54969800	Flanking Active TSS	Aorta	Aorta
47	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
48	chr4:54969600-54969800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
50	chr4:54969600-54969800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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