Variant report

Variant	rs201504248
Chromosome Location	chr3:50519847-50519848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv998611	chr3:50519293-50526732	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50492600-50528400	Weak transcription	Gastric	stomach
2	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:50512000-50523000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:50512600-50524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:50513000-50527400	Weak transcription	Right Atrium	heart
6	chr3:50517000-50520200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:50517200-50520200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:50518000-50520400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr3:50518000-50520400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:50518000-50520800	Enhancers	Fetal Muscle Leg	muscle
11	chr3:50518000-50521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:50518000-50522000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:50518400-50520000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:50518400-50520200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:50518400-50520200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:50518400-50520200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:50518400-50520200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:50518400-50520200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:50518400-50521000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:50518600-50520000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:50518600-50520200	Enhancers	Primary T cells from cord blood	blood
22	chr3:50518600-50520200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:50518600-50520400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:50518600-50520400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr3:50518600-50522000	Enhancers	Lung	lung
26	chr3:50518600-50523600	Enhancers	Fetal Muscle Trunk	muscle
27	chr3:50518800-50520000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:50518800-50520000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:50518800-50520000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:50518800-50520000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:50518800-50521800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:50519000-50520000	Weak transcription	Brain Germinal Matrix	brain
33	chr3:50519000-50520000	Weak transcription	Fetal Thymus	thymus
34	chr3:50519000-50520600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:50519600-50520800	Enhancers	Spleen	Spleen
36	chr3:50519800-50520800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr3:50519800-50524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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