Variant report

Variant	rs59730955
Chromosome Location	chr4:3334933-3334934
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	chr4:3320336..3322310-chr4:3333644..3335356,2	MCF-7	breast:
2	chr4:3294588..3296119-chr4:3334106..3336483,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10488842	1.00[ASN][1000 genomes]
rs16843945	1.00[ASN][1000 genomes]
rs16844163	1.00[EUR][1000 genomes]
rs16844166	1.00[EUR][1000 genomes]
rs16844169	1.00[EUR][1000 genomes]
rs16844176	1.00[EUR][1000 genomes]
rs3025796	1.00[ASN][1000 genomes]
rs3025831	1.00[ASN][1000 genomes]
rs362294	1.00[ASN][1000 genomes]
rs56136832	1.00[EUR][1000 genomes]
rs60790808	1.00[EUR][1000 genomes]
rs6826787	1.00[EUR][1000 genomes]
rs6841189	1.00[EUR][1000 genomes]
rs73074852	1.00[ASN][1000 genomes]
rs7668005	1.00[EUR][1000 genomes]
rs7681277	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
6	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
12	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:3314400-3348200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:3320000-3344000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:3320400-3351800	Weak transcription	Aorta	Aorta
5	chr4:3321000-3347000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:3323600-3344000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:3323600-3344800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:3324000-3341400	Weak transcription	Esophagus	oesophagus
9	chr4:3324000-3343600	Weak transcription	HSMM	muscle
10	chr4:3324200-3340200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:3324200-3342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:3324200-3343600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:3325200-3337400	Weak transcription	Fetal Lung	lung
14	chr4:3325200-3342800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:3325600-3348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:3326200-3341800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:3326200-3342800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:3326400-3336400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:3326400-3341200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:3326400-3341400	Weak transcription	Brain Angular Gyrus	brain
21	chr4:3326400-3343600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:3326400-3343600	Weak transcription	NHLF	lung
23	chr4:3326400-3343800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:3326400-3344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:3326400-3348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:3328000-3335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:3328200-3336600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:3328400-3343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:3329600-3338200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:3330200-3343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:3331000-3343600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:3331400-3339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:3331400-3342400	Weak transcription	Psoas Muscle	Psoas
34	chr4:3332200-3338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:3332400-3343800	Weak transcription	Fetal Intestine Small	intestine
36	chr4:3332600-3336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:3332600-3336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:3332600-3342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:3332800-3342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:3332800-3342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:3332800-3343600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:3332800-3343600	Weak transcription	Primary T cells from cord blood	blood
43	chr4:3332800-3343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:3333600-3341800	Weak transcription	Gastric	stomach
45	chr4:3333800-3337200	Weak transcription	HepG2	liver
46	chr4:3334000-3336400	Weak transcription	Ovary	ovary
47	chr4:3334000-3336600	Weak transcription	Right Ventricle	heart
48	chr4:3334000-3337000	Weak transcription	Lung	lung
49	chr4:3334000-3341800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:3334000-3342200	Weak transcription	Pancreas	Pancrea

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