Variant report

Variant	rs10928384
Chromosome Location	chr2:148959508-148959509
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	chr2:148695045..148696010-chr2:148958677..148959570,5	K562	blood:
2	chr2:148746466..148747928-chr2:148959011..148960040,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115947	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1234398	0.90[JPT][hapmap]
rs1234414	0.81[JPT][hapmap]
rs59094777	0.82[ASN][1000 genomes]
rs62183896	0.82[ASN][1000 genomes]
rs62183921	0.82[ASN][1000 genomes]
rs7574172	0.92[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv915953	chr2:148934787-148977722	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10928384	ACVR2A	cis	cerebellum	SCAN
rs10928384	RUNDC2A	trans	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148913000-148977600	Weak transcription	Aorta	Aorta
2	chr2:148928600-148993600	Weak transcription	HSMM	muscle
3	chr2:148929800-148960800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:148931000-148960600	Weak transcription	Spleen	Spleen
5	chr2:148931200-148993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:148938400-148969200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:148943800-148961200	Weak transcription	Fetal Lung	lung
8	chr2:148944000-148987400	Weak transcription	Ovary	ovary
9	chr2:148944200-148978400	Weak transcription	Left Ventricle	heart
10	chr2:148944400-148962200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:148944600-148978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:148958600-148959600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr2:148958600-148959600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:148958600-148959600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:148958600-148959600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:148958600-148959800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:148958600-148960000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr2:148958800-148959600	Strong transcription	Primary T cells from cord blood	blood
19	chr2:148958800-148964200	Weak transcription	Adipose Nuclei	Adipose
20	chr2:148959000-148959600	ZNF genes & repeats	Thymus	Thymus
21	chr2:148959000-148967600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:148959200-148959800	ZNF genes & repeats	Fetal Brain Male	brain
23	chr2:148959200-148987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:148959400-148959800	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:148959400-148960000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:148959400-148966800	Weak transcription	Pancreas	Pancrea
27	chr2:148959400-148978400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:148959400-148987000	Weak transcription	Primary B cells from cord blood	blood
29	chr2:148959400-148993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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