Variant report

Variant	rs3205290
Chromosome Location	chr2:100009454-100009455
allele	A/C
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	chr2:100009089-100009520	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100007416..100010173-chr2:100015934..100018693,2	MCF-7	breast:
2	chr2:100008715..100012637-chr2:100019428..100022260,4	K562	blood:

Variant related genes	Relation type
EIF5B	TF binding region
ENSG00000273306	Chromatin interaction
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2707633	1.00[LWK][hapmap]
rs2707634	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs28382941	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28382942	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28382960	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28382961	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs3087396	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs3087401	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99978200-100011800	Weak transcription	Esophagus	oesophagus
2	chr2:99979600-100009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:99983200-100013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:99990000-100012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:99990200-100010800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:99990600-100010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:99990600-100010800	Weak transcription	Spleen	Spleen
8	chr2:99994200-100010000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:99994200-100010800	Weak transcription	Fetal Brain Male	brain
10	chr2:99994200-100011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:99996800-100010000	Weak transcription	Small Intestine	intestine
12	chr2:99997200-100011000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:100000000-100014800	Weak transcription	Psoas Muscle	Psoas
15	chr2:100001000-100022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:100001400-100010000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:100001400-100010600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:100003600-100010800	Weak transcription	Lung	lung
19	chr2:100003600-100011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
21	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:100005400-100020000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
25	chr2:100005800-100016600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:100005800-100019600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:100005800-100019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:100005800-100062600	Strong transcription	Dnd41	blood
30	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:100006000-100012200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:100006000-100019000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:100006000-100019200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:100006000-100019200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:100006000-100019600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
38	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
39	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:100006200-100017800	Strong transcription	Hela-S3	cervix
45	chr2:100006200-100019000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:100006200-100019800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
48	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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