Variant report

Variant	rs3810173
Chromosome Location	chr19:41828760-41828761
allele	C/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41828482..41836150-chr19:41836490..41842395,12	K562	blood:
2	chr19:41813982..41818537-chr19:41824784..41829010,7	MCF-7	breast:
3	chr19:41826823..41830968-chr19:41831922..41834042,4	K562	blood:
4	chr19:41767636..41772705-chr19:41827976..41830874,5	K562	blood:
5	chr19:41821189..41824039-chr19:41826906..41830511,3	MCF-7	breast:
6	chr19:41828559..41831020-chr19:41944641..41946935,2	MCF-7	breast:
7	chr19:41814818..41818108-chr19:41828444..41830953,5	K562	blood:
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	chr19:41825498..41830119-chr19:41857290..41861615,7	MCF-7	breast:
12	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:
13	chr19:41824762..41827482-chr19:41828175..41830071,3	K562	blood:

No data

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

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

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

rs_ID	r²[population]
rs1051008	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	0.82[YRI][hapmap]
rs16959007	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975124	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16975156	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	0.95[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	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]
rs61247776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747857	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	0.82[YRI][hapmap]
rs9304592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998468	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41817800-41828800	Strong transcription	Fetal Intestine Small	intestine
2	chr19:41817800-41829200	Weak transcription	Fetal Brain Male	brain
3	chr19:41818000-41828800	Weak transcription	Hela-S3	cervix
4	chr19:41818000-41829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:41818200-41831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:41818400-41829000	Strong transcription	Fetal Intestine Large	intestine
7	chr19:41818400-41831200	Strong transcription	Thymus	Thymus
8	chr19:41818600-41854800	Strong transcription	Dnd41	blood
9	chr19:41819000-41830600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:41819200-41829200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:41819600-41829000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:41821400-41830400	Strong transcription	Fetal Brain Female	brain
13	chr19:41821600-41830000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:41821800-41829000	Strong transcription	Brain Anterior Caudate	brain
15	chr19:41822000-41830600	Strong transcription	Primary T cells from cord blood	blood
16	chr19:41822400-41829000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:41822400-41831000	Weak transcription	Psoas Muscle	Psoas
18	chr19:41823200-41830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:41823200-41832000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:41823400-41829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:41823400-41830400	Weak transcription	Fetal Kidney	kidney
22	chr19:41823400-41830800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:41823400-41832200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:41824200-41830400	Strong transcription	Brain Germinal Matrix	brain
25	chr19:41824400-41830000	Genic enhancers	Placenta	Placenta
26	chr19:41824400-41830600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:41824400-41834000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:41824600-41829000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:41824600-41830800	Genic enhancers	Spleen	Spleen
30	chr19:41824800-41829200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:41825000-41830600	Genic enhancers	Right Ventricle	heart
32	chr19:41825400-41829000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:41825400-41829000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:41825400-41829000	Weak transcription	HMEC	breast
35	chr19:41825600-41829800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr19:41826200-41828800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:41826400-41829200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:41826400-41829200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:41826600-41829600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:41826800-41828800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:41826800-41829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:41826800-41829000	Enhancers	HSMMtube	muscle
43	chr19:41826800-41829200	Genic enhancers	NHLF	lung
44	chr19:41826800-41829800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:41827000-41828800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:41827000-41830200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr19:41827000-41830400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr19:41827000-41830600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr19:41827000-41830800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:41827000-41832800	Genic enhancers	Primary T cells fromperipheralblood	blood

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