Variant report

Variant	rs17041322
Chromosome Location	chr4:110982272-110982273
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	TAL1	chr4:110982188-110982546	K562	blood:	n/a	n/a
2	RCOR1	chr4:110982241-110982550	K562	blood:	n/a	n/a
3	POLR2A	chr4:110981481-110982599	K562	blood:	n/a	n/a
4	TEAD4	chr4:110982173-110982567	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110977785..110984731-chr4:111116105..111121044,7	MCF-7	breast:
2	chr4:110982174..110983963-chr4:111117469..111119843,2	K562	blood:

Variant related genes	Relation type
ELOVL6	TF binding region
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10011256	1.00[CEU][hapmap]
rs10021246	1.00[CEU][hapmap]
rs10029765	1.00[CEU][hapmap]
rs11569082	1.00[MEX][hapmap]
rs11941311	1.00[MEX][hapmap]
rs17040963	1.00[CEU][hapmap]
rs17041311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1860131	1.00[CEU][hapmap]
rs28415825	1.00[EUR][1000 genomes]
rs28529379	1.00[EUR][1000 genomes]
rs28564340	1.00[EUR][1000 genomes]
rs6820750	1.00[MEX][hapmap]
rs7691725	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9307346	1.00[CEU][hapmap]
rs9994891	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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
2	esv1798003	chr4:110981611-110996948	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110964800-110982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:110965200-110986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:110971800-110992800	Weak transcription	Fetal Stomach	stomach
7	chr4:110973000-110991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:110973400-110992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:110974400-110990600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:110974600-110992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:110977000-110983000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:110977200-110985000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:110977200-110992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:110977200-110992600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:110979800-110982400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:110980200-110992600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:110980600-110982600	Enhancers	Dnd41	blood
20	chr4:110980800-110985200	Weak transcription	HepG2	liver
21	chr4:110980800-110990800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:110981000-110983200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:110981200-110983600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:110981400-110982400	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:110981400-110982600	Enhancers	Liver	Liver
28	chr4:110981400-110982600	Enhancers	Brain Substantia Nigra	brain
29	chr4:110981400-110983400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:110981400-110983400	Enhancers	GM12878-XiMat	blood
31	chr4:110981400-110984000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:110981400-110991000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:110981400-110992600	Weak transcription	Adipose Nuclei	Adipose
34	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:110981600-110982400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr4:110981600-110983200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:110981600-110983200	Weak transcription	NHLF	lung
39	chr4:110981600-110983600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:110981600-110985400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:110981600-110989400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:110981800-110982400	Enhancers	Brain Anterior Caudate	brain
43	chr4:110982000-110982400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:110982000-110982600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:110982000-110983600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:110982000-110984600	Weak transcription	Esophagus	oesophagus
47	chr4:110982000-110984600	Weak transcription	Gastric	stomach
48	chr4:110982000-110985000	Weak transcription	Right Atrium	heart
49	chr4:110982000-110985200	Weak transcription	Fetal Intestine Small	intestine
50	chr4:110982000-110988400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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