Variant report

Variant	rs194016
Chromosome Location	chr19:39817100-39817101
allele	C/T
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	chr19:39808144..39812302-chr19:39816588..39820391,4	MCF-7	breast:
2	chr19:39815619..39817650-chr19:39832398..39834004,2	K562	blood:
3	chr19:39703124..39706234-chr19:39814866..39817784,3	K562	blood:
4	chr19:39649335..39651223-chr19:39816830..39818600,2	MCF-7	breast:
5	chr19:39602837..39604442-chr19:39816782..39818967,2	MCF-7	breast:
6	chr19:39703124..39705684-chr19:39814866..39817784,2	K562	blood:
7	chr19:39811133..39814122-chr19:39815915..39818561,2	K562	blood:
8	chr19:39811133..39812905-chr19:39817061..39818993,2	K562	blood:
9	chr19:39815211..39818377-chr19:39830867..39833521,4	K562	blood:
10	chr19:39613427..39615810-chr19:39815780..39817351,2	K562	blood:
11	chr19:39794106..39797864-chr19:39814287..39817446,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269246	Chromatin interaction
ENSG00000268262	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000179134	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16973374	0.81[JPT][hapmap]
rs251903	0.92[CEU][hapmap]
rs251906	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs251907	0.82[ASN][1000 genomes]
rs28668750	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30453	0.89[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs30454	0.89[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs30455	0.89[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs30457	0.89[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs30477	0.81[EUR][1000 genomes]
rs30480	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34605107	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34615060	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36264	0.89[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs36270	0.83[GIH][hapmap]
rs39587	0.84[CEU][hapmap]
rs40441	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs562638	0.89[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs6508860	0.82[JPT][hapmap]
rs685125	0.89[CHB][hapmap];0.81[GIH][hapmap]
rs8108034	0.84[CEU][hapmap]
rs917319	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39811200-39817600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:39811200-39817800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:39811200-39819600	Weak transcription	GM12878-XiMat	blood
4	chr19:39811400-39817600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:39811400-39825800	Weak transcription	Gastric	stomach
6	chr19:39812000-39817600	Weak transcription	Adipose Nuclei	Adipose
7	chr19:39812000-39818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:39812000-39825600	Weak transcription	Right Ventricle	heart
9	chr19:39812200-39817600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:39812200-39818200	Weak transcription	A549	lung
11	chr19:39812200-39818400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:39812200-39818600	Weak transcription	K562	blood
13	chr19:39814400-39819000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:39814800-39826000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:39815200-39818400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:39815400-39818400	Weak transcription	Pancreas	Pancrea
17	chr19:39815800-39817600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:39816200-39817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:39816400-39817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:39816400-39818600	Strong transcription	Dnd41	blood
21	chr19:39816400-39820000	Strong transcription	Thymus	Thymus
22	chr19:39816600-39817200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:39816600-39817800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:39816600-39818400	Strong transcription	Fetal Thymus	thymus
25	chr19:39816600-39818600	Strong transcription	Primary B cells from cord blood	blood
26	chr19:39816600-39818600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr19:39816800-39817600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:39816800-39818400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:39816800-39821400	Weak transcription	Fetal Intestine Small	intestine
30	chr19:39817000-39817200	Enhancers	Placenta	Placenta
31	chr19:39817000-39817600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:39817000-39817600	ZNF genes & repeats	Lung	lung
33	chr19:39817000-39817800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr19:39817000-39817800	Genic enhancers	Spleen	Spleen
35	chr19:39817000-39818200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:39817000-39818600	Strong transcription	Primary T cells from cord blood	blood
37	chr19:39817000-39822000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr19:39817000-39822200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:39817000-39822600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:39817000-39823200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr19:39817000-39824000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr19:39817000-39824600	Genic enhancers	Primary T cells fromperipheralblood	blood

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