Variant report

Variant	rs193131215
Chromosome Location	chr3:119350988-119350989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
2	chr3:119298163..119299885-chr3:119348210..119351201,3	MCF-7	breast:
3	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:

Variant related genes	Relation type
ENSG00000272967	Chromatin interaction
ENSG00000242052	Chromatin interaction
ENSG00000144843	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv1795621	chr3:119344693-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1795670	chr3:119347400-119353995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1797032	chr3:119347400-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1800265	chr3:119347400-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv591364	chr3:119348130-119353995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3463490	chr3:119350258-119354322	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1800054	chr3:119350324-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	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
13	esv3463488	chr3:119350399-119354207	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3463489	chr3:119350426-119354204	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3463487	chr3:119350575-119354102	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3463491	chr3:119350589-119354101	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv10953	chr3:119350642-119354120	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 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	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
4	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
5	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
13	chr3:119349000-119351200	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:119349000-119351400	Enhancers	K562	blood
15	chr3:119349200-119351000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:119349400-119351200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:119349400-119351600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
19	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
20	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
21	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:119349800-119351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:119349800-119351000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:119349800-119351200	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:119349800-119351800	Weak transcription	Right Ventricle	heart
26	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
28	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:119350000-119351000	Weak transcription	Adipose Nuclei	Adipose
34	chr3:119350000-119352000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr3:119350000-119352200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:119350000-119354400	Weak transcription	Lung	lung
37	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
39	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
40	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:119350000-119354800	Weak transcription	NHDF-Ad	bronchial
42	chr3:119350000-119355000	Weak transcription	NH-A	brain
43	chr3:119350000-119355000	Weak transcription	NHLF	lung
44	chr3:119350000-119355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:119350400-119354800	Weak transcription	HSMM	muscle
46	chr3:119350400-119355000	Weak transcription	HSMMtube	muscle
47	chr3:119350600-119352000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:119350600-119354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:119350600-119355000	Weak transcription	Osteobl	bone
50	chr3:119350800-119351400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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