Variant report

Variant	rs571744514
Chromosome Location	chr3:50638801-50638802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50373496..50376492-chr3:50637687..50640592,4	K562	blood:
2	chr3:50626963..50632967-chr3:50633102..50640850,17	K562	blood:
3	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
4	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
5	chr3:50596509..50599002-chr3:50637858..50640256,2	MCF-7	breast:
6	chr3:50638594..50639295-chr3:50648738..50649367,2	MCF-7	breast:
7	chr3:50382035..50386464-chr3:50636911..50639420,4	MCF-7	breast:
8	chr3:50373496..50376047-chr3:50637819..50639325,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114737	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000004838	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000114388	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	esv3425095	chr3:50638568-50638833	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50635800-50640400	Enhancers	Placenta	Placenta
2	chr3:50636000-50641200	Enhancers	Lung	lung
3	chr3:50636000-50641400	Enhancers	Fetal Thymus	thymus
4	chr3:50636000-50641600	Enhancers	Esophagus	oesophagus
5	chr3:50636200-50639000	Enhancers	Liver	Liver
6	chr3:50636200-50640600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:50636400-50640600	Enhancers	Right Atrium	heart
8	chr3:50636400-50641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:50636400-50641600	Enhancers	Pancreas	Pancrea
10	chr3:50636600-50639000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:50636600-50639200	Enhancers	Fetal Muscle Leg	muscle
12	chr3:50636600-50639600	Enhancers	Spleen	Spleen
13	chr3:50636600-50640400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:50636600-50640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:50636600-50643600	Enhancers	Left Ventricle	heart
16	chr3:50636800-50640600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:50636800-50641600	Enhancers	Gastric	stomach
18	chr3:50636800-50646000	Genic enhancers	Fetal Intestine Small	intestine
19	chr3:50637000-50639000	Enhancers	Fetal Lung	lung
20	chr3:50637000-50639800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr3:50637000-50640400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:50637000-50640400	Enhancers	Brain Angular Gyrus	brain
23	chr3:50637000-50640800	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:50637200-50639000	Enhancers	Adipose Nuclei	Adipose
25	chr3:50637200-50639000	Enhancers	NHLF	lung
26	chr3:50637200-50640200	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:50637200-50640400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:50637400-50639000	Enhancers	Fetal Kidney	kidney
29	chr3:50637400-50639800	Flanking Active TSS	K562	blood
30	chr3:50637400-50640000	Enhancers	Brain Substantia Nigra	brain
31	chr3:50637400-50640200	Enhancers	Psoas Muscle	Psoas
32	chr3:50637400-50640600	Flanking Active TSS	Dnd41	blood
33	chr3:50637600-50639000	Enhancers	Brain Anterior Caudate	brain
34	chr3:50637600-50639200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:50637600-50639400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr3:50637600-50639400	Enhancers	GM12878-XiMat	blood
37	chr3:50637600-50640000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:50637600-50640000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr3:50637600-50640400	Enhancers	Primary B cells from cord blood	blood
40	chr3:50637600-50641200	Enhancers	Small Intestine	intestine
41	chr3:50637800-50639200	Enhancers	Fetal Stomach	stomach
42	chr3:50637800-50639800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr3:50637800-50640200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:50637800-50640400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr3:50638000-50639000	Enhancers	Brain Hippocampus Middle	brain
46	chr3:50638000-50639400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:50638000-50639600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr3:50638000-50639600	Enhancers	Fetal Brain Male	brain
49	chr3:50638000-50640000	Enhancers	Thymus	Thymus
50	chr3:50638000-50640000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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