Variant report

Variant	rs553722266
Chromosome Location	chr2:10045668-10045669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10045085..10047212-chr2:10048163..10049823,2	K562	blood:
2	chr2:10036109..10038742-chr2:10044743..10047677,2	K562	blood:
3	chr2:10036313..10038528-chr2:10044301..10045845,2	MCF-7	breast:
4	chr2:10037000..10039031-chr2:10044234..10045895,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv1009210	chr2:10030072-10052257	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1004743	chr2:10031389-10065624	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005938	chr2:10043181-10074384	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1003855	chr2:10045055-10059844	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
4	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:10025000-10047000	Weak transcription	Thymus	Thymus
8	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:10025000-10053800	Weak transcription	Ovary	ovary
10	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
13	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
14	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:10027000-10047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:10027400-10052200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:10027400-10053400	Weak transcription	Fetal Brain Male	brain
18	chr2:10027600-10052000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:10028200-10051000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:10028200-10053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
22	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:10033000-10052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:10036400-10047800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:10036400-10052200	Weak transcription	Liver	Liver
27	chr2:10036600-10047600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:10036800-10051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:10036800-10073000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:10037000-10047400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:10037200-10047200	Weak transcription	Primary T cells from cord blood	blood
33	chr2:10037200-10051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:10037600-10046000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:10038000-10047000	Weak transcription	Fetal Intestine Small	intestine
38	chr2:10038000-10047000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:10038000-10049800	Weak transcription	K562	blood
40	chr2:10038000-10052600	Weak transcription	Fetal Kidney	kidney
41	chr2:10038000-10052800	Weak transcription	HUVEC	blood vessel
42	chr2:10038000-10053000	Weak transcription	Adipose Nuclei	Adipose
43	chr2:10038000-10053600	Weak transcription	Fetal Lung	lung
44	chr2:10038000-10053800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:10038400-10048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:10038400-10051400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:10038400-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:10038400-10053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:10038400-10053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:10038400-10053800	Weak transcription	GM12878-XiMat	blood

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