Variant report

Variant	rs200493138
Chromosome Location	chr5:5305235-5305236
allele	-/AT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5302322..5304229-chr5:5305054..5307757,2	K562	blood:
2	chr5:5304478..5306308-chr5:5307574..5310216,2	MCF-7	breast:
3	chr5:5304202..5306167-chr5:5310492..5313032,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1793859	chr5:5298350-5309672	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352829	chr5:5304052-5306650	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv5491	chr5:5305138-5305817	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3345150	chr5:5305141-5305673	Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5302600-5307400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:5302800-5307000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:5303200-5305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:5303800-5305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:5304000-5307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:5304400-5305400	Enhancers	Liver	Liver
8	chr5:5304400-5305600	Enhancers	Psoas Muscle	Psoas
9	chr5:5304600-5305600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:5304600-5305800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:5304800-5305400	Enhancers	Brain Substantia Nigra	brain
12	chr5:5304800-5305400	Enhancers	HMEC	breast
13	chr5:5304800-5306600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:5304800-5312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:5305000-5305400	ZNF genes & repeats	Fetal Kidney	kidney
16	chr5:5305000-5305400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:5305000-5305600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr5:5305000-5305600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:5305000-5305600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:5305000-5305600	Active TSS	Fetal Lung	lung
21	chr5:5305000-5305600	Flanking Bivalent TSS/Enh	Gastric	stomach
22	chr5:5305000-5305600	ZNF genes & repeats	Hela-S3	cervix
23	chr5:5305000-5305600	Strong transcription	NH-A	brain
24	chr5:5305000-5305800	ZNF genes & repeats	Pancreas	Pancrea
25	chr5:5305000-5306000	ZNF genes & repeats	Esophagus	oesophagus
26	chr5:5305000-5306000	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:5305000-5306800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:5305000-5311400	Strong transcription	Ovary	ovary
29	chr5:5305200-5305400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:5305200-5305400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:5305200-5305400	Enhancers	Right Ventricle	heart
32	chr5:5305200-5305400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:5305200-5305400	ZNF genes & repeats	NHLF	lung
34	chr5:5305200-5305600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:5305200-5305600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:5305200-5305600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:5305200-5305600	Enhancers	Right Atrium	heart
38	chr5:5305200-5305600	ZNF genes & repeats	Spleen	Spleen
39	chr5:5305200-5306800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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