Variant report

Variant	rs17100817
Chromosome Location	chr1:78095825-78095826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17100819	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17100984	0.82[ASW][hapmap]
rs34351666	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34974859	0.93[EUR][1000 genomes]
rs41313399	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6603957	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6604877	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6659285	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6662245	1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6677011	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6678173	0.87[EUR][1000 genomes]
rs6701361	1.00[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7523258	1.00[GIH][hapmap]
rs7525538	0.93[EUR][1000 genomes]
rs7532455	1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7546155	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7546605	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs7550587	0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7555421	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7555864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9659817	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr1:78048000-78097400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:78063600-78097600	Weak transcription	Fetal Brain Male	brain
3	chr1:78070600-78098000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:78071000-78098000	Weak transcription	Colonic Mucosa	Colon
5	chr1:78071200-78098000	Weak transcription	Small Intestine	intestine
6	chr1:78071400-78097800	Weak transcription	Aorta	Aorta
7	chr1:78071800-78097800	Weak transcription	Ovary	ovary
8	chr1:78071800-78097800	Weak transcription	Pancreas	Pancrea
9	chr1:78072000-78097600	Weak transcription	Gastric	stomach
10	chr1:78072200-78098000	Weak transcription	Spleen	Spleen
11	chr1:78072400-78097800	Weak transcription	Lung	lung
12	chr1:78072600-78097800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:78073200-78097400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:78075000-78096000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:78075000-78097800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:78075200-78098000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:78075400-78097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:78075600-78097600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
20	chr1:78077400-78096400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:78080800-78098200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:78083400-78097400	Weak transcription	NHEK	skin
23	chr1:78084200-78097800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:78084200-78097800	Weak transcription	Thymus	Thymus
25	chr1:78084400-78097400	Weak transcription	K562	blood
26	chr1:78085200-78097800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:78085400-78104600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:78086200-78100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:78086400-78097400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:78086400-78100200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:78086400-78104400	Weak transcription	Stomach Mucosa	stomach
32	chr1:78088800-78097800	Weak transcription	Esophagus	oesophagus
33	chr1:78089000-78097400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:78089400-78097400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:78089400-78097400	Weak transcription	Brain Substantia Nigra	brain
36	chr1:78089400-78097600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:78089400-78097800	Weak transcription	Brain Anterior Caudate	brain
38	chr1:78089400-78098000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:78089800-78096400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:78089800-78101400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:78089800-78107400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:78090000-78097400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:78090000-78102800	Strong transcription	Osteobl	bone
44	chr1:78090000-78104000	Strong transcription	HSMM	muscle
45	chr1:78090200-78097600	Weak transcription	Right Ventricle	heart
46	chr1:78090200-78100800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:78090200-78107400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:78090400-78097600	Weak transcription	Fetal Brain Female	brain
49	chr1:78090600-78097400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:78090600-78097400	Weak transcription	Placenta	Placenta

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