Variant report

Variant	rs558392450
Chromosome Location	chr3:119356120-119356121
allele	C/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	EP300	chr3:119355708-119359660	SK-N-SH	brain:	n/a	chr3:119358021-119358035 chr3:119358549-119358558 chr3:119357930-119357938 chr3:119356957-119356971 chr3:119356958-119356972

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119355104..119356665-chr3:119359282..119361780,2	K562	blood:
2	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:

Variant related genes	Relation type
ENSG00000242052	TF binding region
ENSG00000121577	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1796433	chr3:119350324-119360506	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1804126	chr3:119351398-119360506	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv527724	chr3:119353844-119361415	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv963275	chr3:119355854-119358012	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
5	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:119351800-119356400	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
14	chr3:119352600-119367000	Weak transcription	Ovary	ovary
15	chr3:119352800-119356600	Weak transcription	Aorta	Aorta
16	chr3:119353800-119359000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr3:119354000-119356600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:119354000-119358000	Enhancers	Fetal Heart	heart
19	chr3:119354000-119358600	Enhancers	Left Ventricle	heart
20	chr3:119354000-119358800	Enhancers	Placenta	Placenta
21	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:119354400-119358400	Enhancers	Adipose Nuclei	Adipose
23	chr3:119354400-119358400	Enhancers	Right Atrium	heart
24	chr3:119354400-119358800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:119354600-119356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:119354600-119356600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:119354600-119356600	Enhancers	GM12878-XiMat	blood
28	chr3:119354600-119357800	Enhancers	Psoas Muscle	Psoas
29	chr3:119354600-119358400	Enhancers	HUVEC	blood vessel
30	chr3:119354800-119356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:119354800-119356600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:119354800-119356600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:119354800-119356600	Enhancers	NHDF-Ad	bronchial
34	chr3:119354800-119358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:119354800-119358400	Enhancers	HSMM	muscle
36	chr3:119354800-119358600	Enhancers	Small Intestine	intestine
37	chr3:119354800-119358600	Enhancers	HMEC	breast
38	chr3:119354800-119360400	Weak transcription	Lung	lung
39	chr3:119355000-119356600	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:119355000-119356600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:119355000-119356600	Enhancers	Osteobl	bone
42	chr3:119355000-119356800	Enhancers	Stomach Mucosa	stomach
43	chr3:119355000-119357000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr3:119355000-119357000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr3:119355000-119357600	Weak transcription	Esophagus	oesophagus
46	chr3:119355000-119357600	Weak transcription	Fetal Stomach	stomach
47	chr3:119355000-119358000	Enhancers	Spleen	Spleen
48	chr3:119355000-119358200	Enhancers	HSMMtube	muscle
49	chr3:119355000-119358200	Enhancers	NHLF	lung
50	chr3:119355000-119358400	Enhancers	K562	blood

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