Variant report

Variant	rs114586948
Chromosome Location	chr3:50539616-50539617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50536244..50539844-chr3:50540439..50543863,5	MCF-7	breast:
2	chr3:50531296..50533562-chr3:50538381..50540201,2	K562	blood:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50529800-50540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:50538600-50540000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:50538800-50539800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:50538800-50539800	Weak transcription	Right Ventricle	heart
5	chr3:50539000-50541400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:50539200-50539800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:50539200-50539800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr3:50539200-50539800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr3:50539200-50539800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:50539200-50539800	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr3:50539200-50540800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr3:50539400-50539800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr3:50539400-50539800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:50539400-50539800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr3:50539400-50539800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr3:50539400-50539800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr3:50539400-50539800	Active TSS	Lung	lung
18	chr3:50539400-50540000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:50539400-50540000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:50539400-50540000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:50539400-50540000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr3:50539400-50540000	Enhancers	Fetal Heart	heart
23	chr3:50539400-50540000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr3:50539400-50540200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
27	chr3:50539400-50541200	Active TSS	Brain Angular Gyrus	brain
28	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
29	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr3:50539600-50539800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:50539600-50539800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:50539600-50539800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr3:50539600-50539800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:50539600-50539800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr3:50539600-50539800	Flanking Active TSS	Gastric	stomach
37	chr3:50539600-50539800	Enhancers	Right Atrium	heart
38	chr3:50539600-50539800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr3:50539600-50540000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:50539600-50540000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr3:50539600-50540000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr3:50539600-50540000	Active TSS	Brain Anterior Caudate	brain
43	chr3:50539600-50540000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr3:50539600-50540000	Enhancers	Ovary	ovary
45	chr3:50539600-50540000	Enhancers	Pancreas	Pancrea
46	chr3:50539600-50540000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
47	chr3:50539600-50540000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr3:50539600-50540200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr3:50539600-50540200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr3:50539600-50540200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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