Variant report

Variant	rs41292270
Chromosome Location	chr1:78098003-78098004
allele	A/T
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	chr1:78097848-78098563	HepG2	liver:	n/a	n/a
2	GATA3	chr1:78097890-78098254	T-47D	breast:	n/a	n/a
3	POLR2A	chr1:78097492-78098530	K562	blood:	n/a	n/a
4	POLR2A	chr1:78097872-78098531	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:78097615-78098609	K562	blood:	n/a	n/a
6	RCOR1	chr1:78097945-78098376	K562	blood:	n/a	n/a
7	POLR2A	chr1:78097775-78098500	HL-60	blood:	n/a	n/a
8	POLR2A	chr1:78097836-78098733	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78097767..78100222-chr1:78147051..78150017,2	MCF-7	breast:

Variant related genes	Relation type
ZZZ3	TF binding region
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17098297	0.85[AMR][1000 genomes]
rs9728416	0.85[AMR][1000 genomes]

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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78080800-78098200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:78085400-78104600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:78086200-78100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:78086400-78100200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:78086400-78104400	Weak transcription	Stomach Mucosa	stomach
7	chr1:78089800-78101400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:78089800-78107400	Strong transcription	Primary B cells from cord blood	blood
9	chr1:78090000-78102800	Strong transcription	Osteobl	bone
10	chr1:78090000-78104000	Strong transcription	HSMM	muscle
11	chr1:78090200-78100800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:78090200-78107400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:78092200-78100800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:78092800-78107400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:78093800-78100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:78093800-78101200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:78093800-78102800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:78094000-78100800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:78094000-78101200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:78094200-78099400	Strong transcription	HUVEC	blood vessel
21	chr1:78094200-78105000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:78094200-78107400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:78094400-78098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:78094400-78099200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:78094400-78107200	Strong transcription	Fetal Thymus	thymus
26	chr1:78094600-78100800	Strong transcription	Fetal Intestine Large	intestine
27	chr1:78094600-78101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:78094600-78102800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:78094800-78113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:78095000-78098800	Strong transcription	A549	lung
31	chr1:78095000-78099000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:78095000-78100000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:78095000-78101400	Strong transcription	Dnd41	blood
34	chr1:78095200-78098800	Strong transcription	Fetal Lung	lung
35	chr1:78095200-78101200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:78095600-78099400	Strong transcription	Adipose Nuclei	Adipose
37	chr1:78095600-78101400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:78095800-78101200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:78095800-78102400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:78096000-78098800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:78096000-78099000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:78096000-78099200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:78096000-78099400	Strong transcription	NHLF	lung
44	chr1:78096000-78101200	Strong transcription	GM12878-XiMat	blood
45	chr1:78096200-78101200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:78096200-78102000	Weak transcription	Fetal Stomach	stomach
47	chr1:78096200-78110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:78096200-78111000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:78096400-78098200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:78096400-78098400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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