Variant report

Variant	rs16960818
Chromosome Location	chr17:17931763-17931764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17919375..17921668-chr17:17930034..17932922,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960767	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs56054716	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes]
rs56160247	1.00[AMR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes]
rs58676524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303854	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303856	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303857	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8078368	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8078811	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17916400-17936600	Weak transcription	Fetal Kidney	kidney
5	chr17:17917400-17936600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17918000-17932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:17918000-17932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:17920600-17931800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:17920600-17932600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr17:17921000-17940000	Weak transcription	Fetal Brain Male	brain
11	chr17:17922200-17941000	Weak transcription	Small Intestine	intestine
12	chr17:17923800-17941400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:17925200-17941000	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:17925200-17941000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:17925400-17939000	Weak transcription	Gastric	stomach
16	chr17:17925400-17941000	Weak transcription	Colonic Mucosa	Colon
17	chr17:17925400-17941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:17926800-17931800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:17926800-17931800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr17:17926800-17931800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr17:17926800-17932000	Strong transcription	Primary B cells from cord blood	blood
22	chr17:17927000-17931800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:17927000-17931800	Strong transcription	Fetal Brain Female	brain
24	chr17:17927000-17931800	Strong transcription	Fetal Muscle Leg	muscle
25	chr17:17927000-17932400	Strong transcription	Primary T cells from cord blood	blood
26	chr17:17927000-17932600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr17:17927400-17931800	Strong transcription	Fetal Stomach	stomach
28	chr17:17927400-17931800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr17:17927400-17931800	Strong transcription	Dnd41	blood
30	chr17:17927400-17932600	Strong transcription	Fetal Intestine Small	intestine
31	chr17:17927800-17940800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:17928000-17933200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:17929000-17932400	Strong transcription	HepG2	liver
34	chr17:17929200-17932800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:17929400-17931800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:17929400-17932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:17929400-17932600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr17:17929400-17932800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:17929600-17931800	Strong transcription	Fetal Thymus	thymus
40	chr17:17929600-17933200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:17929600-17936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:17929800-17931800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:17930000-17931800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:17930000-17932200	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:17930000-17934600	Weak transcription	HUVEC	blood vessel
46	chr17:17930000-17935200	Weak transcription	NH-A	brain
47	chr17:17930000-17941000	Weak transcription	Brain Anterior Caudate	brain
48	chr17:17930200-17931800	Strong transcription	GM12878-XiMat	blood
49	chr17:17930200-17932000	Weak transcription	Adipose Nuclei	Adipose
50	chr17:17930200-17935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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