Variant report

Variant	rs3122715
Chromosome Location	chr1:212804130-212804131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:212804120-212804270	GM12875	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212803388..212806406-chr1:212807371..212811389,4	K562	blood:
2	chr1:212646040..212648577-chr1:212802320..212804648,2	K562	blood:
3	chr1:212781459..212784572-chr1:212801208..212804973,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BATF3-2	chr1:212800569-212805905	XLOC_001195
2	lnc-BATF3-2	chr1:212802453-212804805	XLOC_001195
3	lnc-BATF3-2	chr1:212800582-212804801	XLOC_001195

No data

Variant related genes	Relation type
ENSG00000235862	TF binding region
ENSG00000162772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2251502	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501839	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3122717	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3122718	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4639826	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212793600-212810600	Weak transcription	Esophagus	oesophagus
2	chr1:212794400-212812200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:212802400-212804400	Enhancers	Thymus	Thymus
4	chr1:212802600-212805000	Enhancers	Fetal Thymus	thymus
5	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
6	chr1:212803000-212804200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:212803000-212804600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:212803000-212805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:212803200-212804200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:212803200-212804200	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:212803200-212804200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:212803200-212804200	Enhancers	GM12878-XiMat	blood
13	chr1:212803200-212804400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212803200-212804400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr1:212803200-212804400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:212803200-212804400	Enhancers	Spleen	Spleen
17	chr1:212803200-212804800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:212803200-212805000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:212803200-212805000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:212803200-212808200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:212803400-212804200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:212803400-212807600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:212803400-212807800	Weak transcription	Osteobl	bone
24	chr1:212803600-212804400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:212803600-212804600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:212803600-212804800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:212803600-212807800	Weak transcription	Fetal Intestine Large	intestine
28	chr1:212803600-212808200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:212803800-212804400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:212803800-212804600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:212803800-212805600	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:212803800-212808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:212803800-212808800	Weak transcription	Left Ventricle	heart
34	chr1:212803800-212808800	Weak transcription	Right Atrium	heart
35	chr1:212803800-212808800	Weak transcription	Right Ventricle	heart
36	chr1:212804000-212804200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:212804000-212804800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr1:212804000-212807800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:212804000-212808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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