Variant report

Variant	rs10919294
Chromosome Location	chr1:170036705-170036706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170032070..170034334-chr1:170034537..170036782,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158922	1.00[AMR][1000 genomes]
rs10218486	1.00[AMR][1000 genomes]
rs10919276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919295	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs10919308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12025296	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12044536	1.00[EUR][1000 genomes]
rs12061373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061500	1.00[AMR][1000 genomes]
rs12061626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066551	1.00[EUR][1000 genomes]
rs12071325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073288	1.00[EUR][1000 genomes]
rs12075569	1.00[EUR][1000 genomes]
rs12076018	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077708	1.00[EUR][1000 genomes]
rs12079608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084420	1.00[AMR][1000 genomes]
rs12087450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[ASW][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103641	1.00[EUR][1000 genomes]
rs2272912	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2901261	1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023593	1.00[EUR][1000 genomes]
rs73041148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531947	1.00[EUR][1000 genomes]
rs989054	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:170018200-170042400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:170018800-170037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:170018800-170040600	Weak transcription	Aorta	Aorta
5	chr1:170019000-170037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:170019000-170041400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:170019000-170042600	Weak transcription	Thymus	Thymus
8	chr1:170019200-170036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:170019200-170042400	Weak transcription	Fetal Lung	lung
10	chr1:170024400-170037800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:170024600-170036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:170032800-170037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:170032800-170040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:170032800-170042400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:170032800-170042600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:170033800-170040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:170033800-170042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:170034200-170040200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:170035200-170037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:170035600-170037400	Enhancers	K562	blood
21	chr1:170035600-170037600	Enhancers	Dnd41	blood
22	chr1:170035800-170037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:170035800-170038600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:170035800-170038800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:170036000-170037800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:170036200-170036800	Flanking Active TSS	Liver	Liver
27	chr1:170036400-170037000	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:170036400-170037000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:170036400-170037000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:170036400-170037000	Enhancers	Right Atrium	heart
31	chr1:170036400-170037000	Enhancers	Right Ventricle	heart
32	chr1:170036400-170037200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:170036400-170037200	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:170036400-170037200	Enhancers	Psoas Muscle	Psoas
35	chr1:170036400-170037200	Enhancers	HepG2	liver
36	chr1:170036400-170037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:170036400-170037400	Flanking Active TSS	GM12878-XiMat	blood
38	chr1:170036400-170037600	Enhancers	NHDF-Ad	bronchial
39	chr1:170036400-170037800	Enhancers	Fetal Heart	heart
40	chr1:170036400-170042200	Weak transcription	NHEK	skin
41	chr1:170036600-170036800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:170036600-170036800	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:170036600-170037000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:170036600-170037000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:170036600-170037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:170036600-170037000	Enhancers	Left Ventricle	heart
47	chr1:170036600-170037000	Enhancers	Pancreas	Pancrea
48	chr1:170036600-170037000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:170036600-170037000	Enhancers	Small Intestine	intestine
50	chr1:170036600-170037000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links