Variant report

Variant	rs376346059
Chromosome Location	chr3:50540018-50540019
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	chr3:50531296..50533562-chr3:50538381..50540201,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv3375288	chr3:50539473-50542821	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 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	chr3:50539000-50541400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:50539200-50540800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr3:50539400-50540200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr3:50539400-50541200	Active TSS	Brain Angular Gyrus	brain
7	chr3:50539600-50540200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr3:50539600-50540200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr3:50539600-50540200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr3:50539600-50540200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:50539600-50540400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr3:50539600-50540400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr3:50539600-50540400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr3:50539600-50540600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:50539600-50540600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
16	chr3:50539600-50541600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:50539800-50540200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:50539800-50540200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:50539800-50540200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:50539800-50540200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr3:50539800-50540200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:50539800-50540200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:50539800-50540200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:50539800-50540200	Bivalent Enhancer	Fetal Kidney	kidney
25	chr3:50539800-50540200	Enhancers	Gastric	stomach
26	chr3:50539800-50540200	Bivalent Enhancer	HMEC	breast
27	chr3:50539800-50540400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr3:50539800-50540400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr3:50539800-50540400	Bivalent Enhancer	Placenta	Placenta
34	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr3:50539800-50540400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr3:50539800-50540600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr3:50539800-50540600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:50539800-50540600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:50539800-50540600	Enhancers	Liver	Liver
40	chr3:50539800-50540600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr3:50539800-50540600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr3:50539800-50540600	Flanking Active TSS	Lung	lung
43	chr3:50539800-50540800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr3:50539800-50541400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:50539800-50541400	Active TSS	Right Atrium	heart
46	chr3:50540000-50540200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:50540000-50540200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:50540000-50540200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50540000-50540200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:50540000-50540200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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