Variant report

Variant	rs2127957
Chromosome Location	chr3:20027232-20027233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20027209..20028836-chr3:20081202..20083011,2	K562	blood:
2	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:
3	chr3:20026744..20028391-chr3:20179736..20182279,2	MCF-7	breast:
4	chr3:20026329..20028709-chr3:20079789..20082702,2	K562	blood:
5	chr3:19997450..19999508-chr3:20025460..20027848,2	K562	blood:

Variant related genes	Relation type
ENSG00000114166	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13082670	1.00[AFR][1000 genomes]
rs2170342	0.85[MEX][hapmap]
rs2929416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948106	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36168128	1.00[AFR][1000 genomes]
rs6778866	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
2	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
6	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19999600-20027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:20008800-20035600	Weak transcription	Psoas Muscle	Psoas
3	chr3:20011800-20027400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:20011800-20028000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:20012000-20027800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr3:20012000-20027800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:20012400-20027600	Strong transcription	Primary B cells from cord blood	blood
8	chr3:20012400-20033600	Weak transcription	Fetal Brain Male	brain
9	chr3:20014600-20027600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:20015200-20027600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:20015200-20027600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:20015200-20030000	Strong transcription	Fetal Thymus	thymus
13	chr3:20015400-20027400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:20015400-20027600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:20015400-20028200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:20015400-20028200	Strong transcription	Placenta	Placenta
17	chr3:20015600-20027600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:20015800-20027600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:20015800-20027600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:20016000-20027400	Strong transcription	NH-A	brain
21	chr3:20016200-20027600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:20016200-20028000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:20016600-20027600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:20020400-20027600	Strong transcription	Primary T cells from cord blood	blood
25	chr3:20021000-20027400	Strong transcription	HUVEC	blood vessel
26	chr3:20021400-20028200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:20021800-20027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:20021800-20029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:20023000-20045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:20023400-20029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:20023800-20027400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:20024000-20027400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:20024000-20031200	Weak transcription	HSMM	muscle
34	chr3:20024000-20041400	Weak transcription	Ovary	ovary
35	chr3:20024200-20027400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:20024200-20027600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:20024200-20028600	Weak transcription	Colonic Mucosa	Colon
38	chr3:20024200-20030600	Weak transcription	Hela-S3	cervix
39	chr3:20024200-20031000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:20024200-20031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:20024200-20031800	Weak transcription	Left Ventricle	heart
42	chr3:20024200-20033200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:20024200-20033400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:20024200-20036800	Weak transcription	Aorta	Aorta
45	chr3:20024200-20051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:20024400-20027600	Weak transcription	HepG2	liver
47	chr3:20024400-20028600	Weak transcription	Brain Substantia Nigra	brain
48	chr3:20024400-20029000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:20024400-20029200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:20024400-20029800	Weak transcription	Spleen	Spleen

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