Variant report

Variant	rs16959007
Chromosome Location	chr19:41830136-41830137
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41828482..41836150-chr19:41836490..41842395,12	K562	blood:
2	chr19:41826823..41830968-chr19:41831922..41834042,4	K562	blood:
3	chr19:41767636..41772705-chr19:41827976..41830874,5	K562	blood:
4	chr19:41821189..41824039-chr19:41826906..41830511,3	MCF-7	breast:
5	chr19:41828559..41831020-chr19:41944641..41946935,2	MCF-7	breast:
6	chr19:41814818..41818108-chr19:41828444..41830953,5	K562	blood:
7	chr19:41829468..41831265-chr19:41933242..41935169,2	MCF-7	breast:
8	chr19:41813217..41816431-chr19:41827201..41830694,5	MCF-7	breast:
9	chr19:41827333..41835079-chr19:41855373..41860241,10	K562	blood:
10	chr19:41827408..41831164-chr19:41901595..41905295,3	MCF-7	breast:
11	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000248098	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10414612	1.00[TSI][hapmap]
rs1051008	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11466349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12983047	0.83[YRI][hapmap]
rs16975124	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16975156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975164	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1968453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217656	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810173	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61247776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246896	0.82[CHB][hapmap]
rs7249554	1.00[TSI][hapmap]
rs747857	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105161	0.83[YRI][hapmap]
rs9304592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998468	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41818200-41831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:41818400-41831200	Strong transcription	Thymus	Thymus
3	chr19:41818600-41854800	Strong transcription	Dnd41	blood
4	chr19:41819000-41830600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:41821400-41830400	Strong transcription	Fetal Brain Female	brain
6	chr19:41822000-41830600	Strong transcription	Primary T cells from cord blood	blood
7	chr19:41822400-41831000	Weak transcription	Psoas Muscle	Psoas
8	chr19:41823200-41830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:41823200-41832000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:41823400-41830400	Weak transcription	Fetal Kidney	kidney
11	chr19:41823400-41830800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:41823400-41832200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:41824200-41830400	Strong transcription	Brain Germinal Matrix	brain
14	chr19:41824400-41830600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:41824400-41834000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:41824600-41830800	Genic enhancers	Spleen	Spleen
17	chr19:41825000-41830600	Genic enhancers	Right Ventricle	heart
18	chr19:41827000-41830200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr19:41827000-41830400	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr19:41827000-41830600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr19:41827000-41830800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:41827000-41832800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr19:41827200-41830400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr19:41827200-41830600	Enhancers	Right Atrium	heart
25	chr19:41827200-41832000	Enhancers	NHDF-Ad	bronchial
26	chr19:41827400-41830600	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr19:41827400-41830600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
28	chr19:41827400-41830800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:41827400-41831000	Enhancers	Ovary	ovary
30	chr19:41827400-41831000	Flanking Active TSS	HepG2	liver
31	chr19:41827400-41831200	Weak transcription	Aorta	Aorta
32	chr19:41827400-41831200	Enhancers	Left Ventricle	heart
33	chr19:41827400-41833000	Enhancers	Primary hematopoietic stem cells	blood
34	chr19:41827400-41833000	Genic enhancers	Fetal Thymus	thymus
35	chr19:41827600-41830600	Genic enhancers	Fetal Stomach	stomach
36	chr19:41827600-41831800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr19:41827800-41830400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr19:41827800-41830600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:41827800-41830600	Weak transcription	Brain Angular Gyrus	brain
40	chr19:41827800-41830800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr19:41827800-41832200	Enhancers	Stomach Mucosa	stomach
42	chr19:41828000-41830200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr19:41828000-41832000	Enhancers	Duodenum Mucosa	Duodenum
44	chr19:41828200-41831200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr19:41828400-41830200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:41828400-41830400	Weak transcription	Fetal Heart	heart
47	chr19:41828400-41830600	Transcr. at gene 5' and 3'	A549	lung
48	chr19:41828400-41832200	Enhancers	Liver	Liver
49	chr19:41828600-41830400	Weak transcription	Fetal Lung	lung
50	chr19:41828600-41830600	Transcr. at gene 5' and 3'	K562	blood

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