Variant report

Variant	rs558514131
Chromosome Location	chr10:5591803-5591804
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
2	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
3	chr10:5589713..5592191-chr10:5816215..5819023,2	MCF-7	breast:
4	chr10:5590969..5593951-chr10:5606368..5608078,2	K562	blood:
5	chr10:5509879..5512674-chr10:5590526..5592365,2	K562	blood:
6	chr10:5585944..5594625-chr10:5661457..5667151,17	MCF-7	breast:
7	chr10:5580109..5581869-chr10:5591078..5593322,2	K562	blood:
8	chr10:5591759..5594036-chr3:123396035..123398437,2	MCF-7	breast:
9	chr10:5586562..5592727-chr10:5636153..5640876,13	MCF-7	breast:
10	chr10:5583637..5601494-chr10:5650599..5672411,88	MCF-7	breast:
11	chr10:5589141..5591832-chr10:5607489..5609696,2	MCF-7	breast:
12	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:
13	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
14	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
15	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
16	chr10:5520027..5522501-chr10:5590798..5592556,2	K562	blood:
17	chr10:5585544..5594047-chr10:5703661..5709987,18	MCF-7	breast:
18	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
19	chr10:5520840..5523317-chr10:5589308..5592399,3	K562	blood:
20	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALML5-3	chr10:5591591-5592344	XLOC_008708

No data

Variant related genes	Relation type
ENSG00000196372	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000270427	Chromatin interaction
ENSG00000228951	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000242147	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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv470915	chr10:5591025-5602880	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5586200-5596600	Enhancers	Placenta	Placenta
2	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:5586400-5592600	Enhancers	Fetal Lung	lung
4	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
5	chr10:5587000-5592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:5587200-5594200	Enhancers	Fetal Muscle Leg	muscle
8	chr10:5587400-5593200	Weak transcription	Thymus	Thymus
9	chr10:5587600-5596800	Enhancers	Fetal Thymus	thymus
10	chr10:5587800-5594400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:5588600-5592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5589400-5597000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr10:5589600-5593600	Enhancers	NHEK	skin
15	chr10:5589800-5593800	Enhancers	Primary T cells from cord blood	blood
16	chr10:5590200-5592000	Enhancers	Duodenum Mucosa	Duodenum
17	chr10:5590200-5592000	Enhancers	HSMM	muscle
18	chr10:5590200-5596800	Enhancers	HMEC	breast
19	chr10:5590200-5597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:5590200-5599400	Enhancers	Fetal Intestine Small	intestine
21	chr10:5590200-5599800	Enhancers	Fetal Intestine Large	intestine
22	chr10:5590400-5594000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:5590400-5596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:5590400-5597000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:5590600-5595600	Weak transcription	Small Intestine	intestine
26	chr10:5590600-5596200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:5590600-5596200	Weak transcription	Brain Angular Gyrus	brain
28	chr10:5590600-5596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:5590800-5593400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:5590800-5593800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:5590800-5595600	Weak transcription	Ovary	ovary
32	chr10:5590800-5596000	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:5590800-5597400	Enhancers	Stomach Mucosa	stomach
34	chr10:5590800-5598400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:5591000-5592200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:5591000-5592400	Enhancers	NH-A	brain
37	chr10:5591000-5593000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:5591000-5593200	Weak transcription	Fetal Stomach	stomach
39	chr10:5591000-5593600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:5591000-5593600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:5591000-5593800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:5591000-5594000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:5591000-5594000	Weak transcription	Fetal Kidney	kidney
44	chr10:5591000-5594000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr10:5591000-5594400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:5591000-5594400	Weak transcription	Spleen	Spleen
47	chr10:5591000-5595400	Weak transcription	Brain Anterior Caudate	brain
48	chr10:5591000-5596000	Weak transcription	Adipose Nuclei	Adipose
49	chr10:5591000-5596000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:5591000-5596200	Weak transcription	Psoas Muscle	Psoas

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