Variant report

Variant	rs13119378
Chromosome Location	chr4:495321-495322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:495288-495488	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:495044-495442	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:466610..468413-chr4:494950..496533,2	K562	blood:
2	chr4:494683..496687-chr4:525135..526815,2	MCF-7	breast:
3	chr4:494348..496801-chr4:541842..544744,2	K562	blood:
4	chr4:493496..496424-chr4:496534..498513,2	MCF-7	breast:
5	chr4:493072..496177-chr4:508177..512023,3	MCF-7	breast:
6	chr4:494928..497132-chr4:662075..663676,2	K562	blood:
7	chr4:494785..497666-chr4:509870..511865,3	K562	blood:
8	chr4:493744..499975-chr4:504792..509084,10	K562	blood:
9	chr3:73160121..73160632-chr4:494795..495419,2	NB4	blood:

No data

Variant related genes	Relation type
ZNF721	TF binding region
ENSG00000251595	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000182903	Chromatin interaction
ENSG00000174227	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11934905	1.00[GIH][hapmap]
rs11945320	0.83[GIH][hapmap]
rs1838040	1.00[YRI][hapmap]
rs4690277	1.00[YRI][hapmap]
rs6828138	1.00[AFR][1000 genomes]
rs6841911	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9998968	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:493600-520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:493800-495800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr4:494000-495400	Weak transcription	Colonic Mucosa	Colon
4	chr4:494000-495800	Weak transcription	Esophagus	oesophagus
5	chr4:494000-496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:494000-497000	Weak transcription	Right Ventricle	heart
7	chr4:494000-500000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:494200-495400	Genic enhancers	Brain Angular Gyrus	brain
9	chr4:494200-495400	Weak transcription	Psoas Muscle	Psoas
10	chr4:494200-495600	Genic enhancers	Primary T cells from cord blood	blood
11	chr4:494200-495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:494200-495800	Weak transcription	Aorta	Aorta
13	chr4:494200-499600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:494200-499800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:494200-505600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:494200-506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:494400-495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:494400-495400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:494400-495600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:494400-495600	Weak transcription	HUVEC	blood vessel
21	chr4:494400-495800	Strong transcription	NHLF	lung
22	chr4:494400-496000	Weak transcription	HSMMtube	muscle
23	chr4:494400-496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:494400-497000	Strong transcription	K562	blood
25	chr4:494400-497600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:494400-497600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:494400-498200	Weak transcription	NH-A	brain
28	chr4:494400-498600	Strong transcription	Pancreas	Pancrea
29	chr4:494400-499800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:494400-501800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:494400-501800	Strong transcription	A549	lung
32	chr4:494400-502200	Strong transcription	HSMM	muscle
33	chr4:494400-503200	Weak transcription	Small Intestine	intestine
34	chr4:494400-503200	Weak transcription	Stomach Mucosa	stomach
35	chr4:494400-505400	Strong transcription	Thymus	Thymus
36	chr4:494400-521400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:494400-531000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:494400-533200	Strong transcription	Placenta	Placenta
39	chr4:494400-534600	Weak transcription	Fetal Heart	heart
40	chr4:494600-495400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:494600-495400	Weak transcription	Brain Anterior Caudate	brain
42	chr4:494600-495800	ZNF genes & repeats	GM12878-XiMat	blood
43	chr4:494600-497000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:494600-497000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:494600-497200	Strong transcription	Primary B cells from cord blood	blood
46	chr4:494600-497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:494600-497400	Strong transcription	Osteobl	bone
48	chr4:494600-497600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:494600-497600	Strong transcription	Brain Hippocampus Middle	brain
50	chr4:494600-497600	Strong transcription	Rectal Mucosa Donor 29	rectum

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