Variant report

Variant	rs540579868
Chromosome Location	chr10:99127051-99127052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99126758-99127443	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99123357..99125216-chr10:99127019..99128808,2	K562	blood:

Variant related genes	Relation type
RRP12	TF binding region
ENSG00000052749	Chromatin interaction

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv467437	chr10:99115683-99167436	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv552023	chr10:99115683-99167436	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv467438	chr10:99126249-99173870	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv552024	chr10:99126249-99173870	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99107000-99131800	Weak transcription	Fetal Kidney	kidney
2	chr10:99107200-99129200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:99109600-99157800	Strong transcription	Fetal Stomach	stomach
5	chr10:99110600-99132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr10:99110800-99139800	Weak transcription	Stomach Mucosa	stomach
7	chr10:99111600-99141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:99113200-99135400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:99113400-99158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:99113800-99138800	Strong transcription	Fetal Intestine Small	intestine
11	chr10:99113800-99158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:99113800-99159800	Weak transcription	Fetal Brain Male	brain
13	chr10:99114400-99135000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:99114600-99159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:99115200-99133800	Strong transcription	A549	lung
16	chr10:99115200-99134200	Strong transcription	Gastric	stomach
17	chr10:99115200-99136000	Strong transcription	Fetal Brain Female	brain
18	chr10:99115200-99136800	Strong transcription	Dnd41	blood
19	chr10:99115200-99145800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr10:99115200-99146800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:99115400-99134200	Strong transcription	Pancreas	Pancrea
22	chr10:99115400-99157600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:99115600-99127600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:99115600-99133800	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:99115600-99134000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:99115600-99141600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:99115600-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:99115800-99157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:99115800-99157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:99115800-99158600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr10:99116000-99134000	Strong transcription	Brain Germinal Matrix	brain
32	chr10:99116000-99136800	Strong transcription	Primary T cells from cord blood	blood
33	chr10:99116400-99127200	Strong transcription	Left Ventricle	heart
34	chr10:99116800-99131000	Weak transcription	NHDF-Ad	bronchial
35	chr10:99116800-99135600	Strong transcription	Brain Anterior Caudate	brain
36	chr10:99117000-99128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:99117000-99133800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:99117000-99134200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:99117200-99128400	Weak transcription	Fetal Thymus	thymus
40	chr10:99117200-99132800	Weak transcription	Small Intestine	intestine
41	chr10:99117400-99138800	Strong transcription	Fetal Intestine Large	intestine
42	chr10:99118000-99133800	Strong transcription	HSMMtube	muscle
43	chr10:99118000-99159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:99118200-99127200	Strong transcription	NHLF	lung
45	chr10:99118200-99134200	Strong transcription	Right Ventricle	heart
46	chr10:99118600-99133800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:99118800-99128600	Weak transcription	K562	blood
48	chr10:99119600-99131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:99120400-99129200	Weak transcription	Fetal Lung	lung
50	chr10:99121000-99157600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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