Variant report

Variant	rs7254679
Chromosome Location	chr19:41833569-41833570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41767658..41770792-chr19:41831725..41834238,3	K562	blood:
2	chr19:41826823..41830968-chr19:41831922..41834042,4	K562	blood:
3	chr19:41831560..41835425-chr19:41857306..41860915,5	MCF-7	breast:
4	chr19:41831768..41836591-chr19:41855042..41861850,7	MCF-7	breast:
5	chr19:41828482..41836150-chr19:41836490..41842395,12	K562	blood:
6	chr19:41832909..41835024-chr19:42101795..42103812,2	MCF-7	breast:
7	chr19:41833038..41835641-chr19:41836593..41839563,3	MCF-7	breast:
8	chr19:41832250..41834586-chr19:41869833..41871949,2	MCF-7	breast:
9	chr19:41830987..41833840-chr19:41863132..41865918,2	MCF-7	breast:
10	chr17:57917191..57917709-chr19:41832884..41833686,2	Hela-S3	cervix:
11	chr19:41831305..41834013-chr19:41846583..41848219,2	MCF-7	breast:
12	chr19:41833143..41834852-chr19:41837091..41839256,2	MCF-7	breast:
13	chr19:41832231..41833796-chr19:41933129..41935701,2	MCF-7	breast:
14	chr19:41831346..41834829-chr19:41839847..41842634,3	MCF-7	breast:
15	chr19:41832138..41834611-chr19:41867013..41869062,2	K562	blood:
16	chr19:41831307..41833980-chr19:41944294..41947067,2	MCF-7	breast:
17	chr19:41827333..41835079-chr19:41855373..41860241,10	K562	blood:
18	chr19:41769289..41771419-chr19:41832191..41834846,3	MCF-7	breast:
19	chr19:41831464..41833596-chr19:41945378..41947616,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142046	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000255730	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10410836	0.91[ASN][1000 genomes]
rs10421990	0.94[ASN][1000 genomes]
rs11466347	0.81[EUR][1000 genomes]
rs11879562	0.94[ASN][1000 genomes]
rs12327659	0.94[ASN][1000 genomes]
rs12974323	0.94[ASN][1000 genomes]
rs12975585	0.87[ASN][1000 genomes]
rs12975920	0.92[ASN][1000 genomes]
rs12980298	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12980480	0.94[ASN][1000 genomes]
rs12980839	0.91[ASN][1000 genomes]
rs12980942	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12981053	0.84[EUR][1000 genomes]
rs12983047	0.82[CEU][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12984160	0.82[CEU][hapmap]
rs13345456	0.94[ASN][1000 genomes]
rs16958994	0.92[ASN][1000 genomes]
rs16958996	0.92[ASN][1000 genomes]
rs16958999	0.92[ASN][1000 genomes]
rs1865051	0.82[CEU][hapmap];0.92[ASN][1000 genomes]
rs1865052	0.92[ASN][1000 genomes]
rs1865053	0.82[CEU][hapmap];0.94[ASN][1000 genomes]
rs2241718	0.82[CEU][hapmap]
rs2241720	0.82[CEU][hapmap]
rs2304230	0.91[ASN][1000 genomes]
rs34075897	0.95[ASN][1000 genomes]
rs34945449	0.91[ASN][1000 genomes]
rs3745295	0.91[ASN][1000 genomes]
rs3752705	0.94[ASN][1000 genomes]
rs3816052	0.91[ASN][1000 genomes]
rs3826714	0.83[CEU][hapmap];0.92[ASN][1000 genomes]
rs4456618	0.83[CEU][hapmap];0.94[ASN][1000 genomes]
rs66724427	0.91[ASN][1000 genomes]
rs67511749	0.92[ASN][1000 genomes]
rs6957	0.82[CEU][hapmap];0.92[ASN][1000 genomes]
rs7245398	0.82[CEU][hapmap];0.94[ASN][1000 genomes]
rs7248164	0.94[ASN][1000 genomes]
rs7256416	0.91[ASN][1000 genomes]
rs7256856	0.88[ASN][1000 genomes]
rs7257310	0.82[CEU][hapmap];0.95[ASN][1000 genomes]
rs7257742	0.95[ASN][1000 genomes]
rs7257825	0.90[ASN][1000 genomes]
rs7258749	0.94[ASN][1000 genomes]
rs8105161	0.82[CEU][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8109167	0.82[CEU][hapmap];0.92[ASN][1000 genomes]
rs8109627	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41818600-41854800	Strong transcription	Dnd41	blood
2	chr19:41824400-41834000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:41828600-41834000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:41828800-41834000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:41828800-41834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:41829200-41835400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:41830400-41834000	Enhancers	Fetal Lung	lung
8	chr19:41830800-41834600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:41830800-41835000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:41831600-41834000	Genic enhancers	Primary T cells from cord blood	blood
11	chr19:41831600-41835200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr19:41831600-41835400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr19:41831800-41833800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:41831800-41834600	Enhancers	Fetal Heart	heart
15	chr19:41831800-41835200	Genic enhancers	Spleen	Spleen
16	chr19:41832000-41833800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:41832000-41834000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:41832000-41834200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr19:41832000-41835200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:41832200-41833600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:41832200-41833600	Enhancers	Right Ventricle	heart
22	chr19:41832200-41833600	Enhancers	NHLF	lung
23	chr19:41832200-41833800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr19:41832200-41834000	Weak transcription	Small Intestine	intestine
25	chr19:41832200-41834000	Flanking Active TSS	GM12878-XiMat	blood
26	chr19:41832200-41834200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:41832200-41834200	Enhancers	Placenta	Placenta
28	chr19:41832200-41835000	Enhancers	Left Ventricle	heart
29	chr19:41832200-41835200	Genic enhancers	A549	lung
30	chr19:41832200-41835200	Genic enhancers	K562	blood
31	chr19:41832400-41833600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:41832400-41833600	Enhancers	Lung	lung
33	chr19:41832400-41833800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:41832400-41834000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:41832400-41834000	Enhancers	Stomach Mucosa	stomach
36	chr19:41832400-41834000	Enhancers	NH-A	brain
37	chr19:41832400-41834200	Enhancers	Fetal Kidney	kidney
38	chr19:41832400-41834200	Enhancers	HSMMtube	muscle
39	chr19:41832400-41834400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:41832400-41834400	Bivalent Enhancer	Fetal Brain Male	brain
41	chr19:41832400-41834800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:41832400-41835000	Enhancers	Brain Angular Gyrus	brain
43	chr19:41832400-41835000	Genic enhancers	HSMM	muscle
44	chr19:41832400-41835200	Enhancers	Liver	Liver
45	chr19:41832400-41835200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr19:41832400-41835400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:41832400-41837000	Weak transcription	Ovary	ovary
48	chr19:41832400-41856000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:41832600-41833600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr19:41832600-41833600	Weak transcription	Gastric	stomach

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