Variant report

Variant	rs75339997
Chromosome Location	chr3:120162014-120162015
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	chr3:120137478..120138354-chr3:120161073..120162380,5	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv3463501	chr3:120160062-120165260	Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3499188	chr3:120160412-120166010	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv436396	chr3:120160617-120166439	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3499192	chr3:120160812-120165910	Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3499191	chr3:120161046-120165383	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3463500	chr3:120161510-120165088	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3499193	chr3:120161543-120165108	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3463499	chr3:120161557-120165063	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3499194	chr3:120161559-120165148	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3499189	chr3:120161561-120165056	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3499190	chr3:120161593-120165041	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3463502	chr3:120161645-120164952	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3499195	chr3:120161645-120164952	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv12194	chr3:120161675-120165180	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3324710	chr3:120161962-120166460	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120137400-120162200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:120138200-120167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:120138200-120169200	Weak transcription	Gastric	stomach
4	chr3:120144400-120165800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
6	chr3:120151800-120166200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:120152600-120162200	Genic enhancers	Fetal Stomach	stomach
8	chr3:120153000-120167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:120155200-120163400	Genic enhancers	NHLF	lung
10	chr3:120155400-120162800	Enhancers	Right Atrium	heart
11	chr3:120155800-120168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:120156200-120166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:120156600-120168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:120156800-120165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:120156800-120166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:120158000-120166200	Weak transcription	Fetal Brain Female	brain
17	chr3:120158000-120167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:120158200-120167400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:120158400-120165600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:120158800-120163000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:120158800-120165200	Weak transcription	Lung	lung
22	chr3:120158800-120166000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:120158800-120167400	Weak transcription	A549	lung
24	chr3:120159600-120163200	Strong transcription	HSMM	muscle
25	chr3:120159600-120165200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:120159600-120165800	Weak transcription	Spleen	Spleen
27	chr3:120159800-120164600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:120159800-120165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:120160000-120164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:120160000-120167400	Weak transcription	HMEC	breast
31	chr3:120160000-120167600	Weak transcription	NHEK	skin
32	chr3:120160200-120162200	Weak transcription	Fetal Kidney	kidney
33	chr3:120160200-120164600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:120160200-120165000	Enhancers	Colon Smooth Muscle	Colon
35	chr3:120160400-120164400	Weak transcription	Fetal Intestine Large	intestine
36	chr3:120160400-120165800	Weak transcription	Placenta	Placenta
37	chr3:120160600-120162200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:120160600-120162200	Enhancers	Adipose Nuclei	Adipose
39	chr3:120160600-120162400	Weak transcription	Fetal Brain Male	brain
40	chr3:120160600-120164600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:120160600-120165200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:120160600-120165200	Enhancers	Fetal Heart	heart
43	chr3:120160600-120165800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:120160600-120166000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:120160600-120167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:120160800-120162200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:120160800-120162200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:120160800-120162200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:120160800-120166000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:120160800-120166000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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