Variant report

Variant	rs566072273
Chromosome Location	chr4:3344015-3344016
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr4:3343822-3344704	A549	lung:	n/a	n/a
2	GATA2	chr4:3343722-3344400	HUVEC	blood vessel:	n/a	chr4:3344102-3344112
3	POLR2A	chr4:3343907-3344427	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr4:3343817-3344447	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:3343839-3344282	SK-N-MC	brain:	n/a	n/a
6	FOXA2	chr4:3343919-3344849	HepG2	liver:	n/a	n/a
7	FOS	chr4:3343941-3344661	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:3343836-3344634	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:
2	chr4:3339354..3341969-chr4:3342389..3344050,2	MCF-7	breast:
3	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000175920	Chromatin interaction
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
8	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
9	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
10	esv3398851	chr4:3341979-3344927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv593445	chr4:3342137-3344891	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv593446	chr4:3342137-3346617	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3399978	chr4:3342179-3344577	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3438484	chr4:3342654-3344302	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv593448	chr4:3342954-3344891	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv593449	chr4:3342954-3346617	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

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	chr4:3320400-3351800	Weak transcription	Aorta	Aorta
4	chr4:3321000-3347000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:3323600-3344800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:3325600-3348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:3326400-3344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:3326400-3348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:3334000-3345800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
11	chr4:3339200-3353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:3342000-3345200	Weak transcription	Gastric	stomach
13	chr4:3342000-3348200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:3342200-3348000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:3342600-3344400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:3342600-3348000	Weak transcription	Liver	Liver
17	chr4:3342600-3350200	Weak transcription	Pancreas	Pancrea
18	chr4:3342800-3344600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:3342800-3344600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:3342800-3344600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:3342800-3344600	Enhancers	Fetal Stomach	stomach
22	chr4:3342800-3348000	Weak transcription	Left Ventricle	heart
23	chr4:3342800-3348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:3342800-3355400	Weak transcription	Esophagus	oesophagus
25	chr4:3343000-3345200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:3343400-3344400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:3343400-3344400	Enhancers	Fetal Brain Female	brain
28	chr4:3343400-3344400	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:3343400-3344600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:3343600-3344200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:3343600-3344200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:3343600-3344200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:3343600-3344200	Enhancers	Fetal Muscle Leg	muscle
34	chr4:3343600-3344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:3343600-3344400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:3343600-3344400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:3343600-3344400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:3343600-3344400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:3343600-3344400	Enhancers	Primary T cells from cord blood	blood
40	chr4:3343600-3344400	Enhancers	Primary hematopoietic stem cells	blood
41	chr4:3343600-3344400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:3343600-3344400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:3343600-3344400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr4:3343600-3344400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:3343600-3344400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:3343600-3344400	Enhancers	Adipose Nuclei	Adipose
47	chr4:3343600-3344400	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:3343600-3344400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:3343600-3344400	Enhancers	Ovary	ovary
50	chr4:3343600-3344400	Enhancers	Spleen	Spleen

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