Variant report

Variant	rs547559518
Chromosome Location	chr3:120482489-120482490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120460945..120463324-chr3:120481633..120483681,2	K562	blood:

Variant related genes	Relation type
ENSG00000153767	Chromatin interaction
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
8	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:120462800-120500000	Weak transcription	Gastric	stomach
6	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:120463000-120484800	Weak transcription	K562	blood
8	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea
9	chr3:120463000-120485600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:120463000-120485600	Weak transcription	HMEC	breast
11	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
13	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
15	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
17	chr3:120463200-120484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:120463200-120485400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:120463200-120492000	Weak transcription	Thymus	Thymus
20	chr3:120463200-120494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
22	chr3:120463400-120482800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:120463400-120485000	Weak transcription	Brain Angular Gyrus	brain
24	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
25	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
26	chr3:120464000-120489600	Weak transcription	NHDF-Ad	bronchial
27	chr3:120470200-120482800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:120470200-120482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:120470200-120483000	Weak transcription	Left Ventricle	heart
30	chr3:120470200-120485400	Weak transcription	Fetal Stomach	stomach
31	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
32	chr3:120470200-120499800	Weak transcription	Lung	lung
33	chr3:120470400-120482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:120470400-120484400	Weak transcription	HepG2	liver
35	chr3:120470400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:120470400-120489600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:120470600-120482800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:120470600-120490200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:120470800-120490400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:120471400-120485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:120471400-120489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:120471600-120484600	Weak transcription	Liver	Liver
43	chr3:120471600-120491200	Weak transcription	Placenta	Placenta
44	chr3:120471600-120491600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:120471800-120489800	Weak transcription	Fetal Intestine Large	intestine
46	chr3:120472000-120489400	Weak transcription	Primary T cells from cord blood	blood
47	chr3:120472400-120495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:120472600-120485200	Weak transcription	NHEK	skin
49	chr3:120472600-120493200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:120473000-120489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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