Variant report

Variant	rs16851417
Chromosome Location	chr3:105380911-105380912
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	chr3:105373222..105375120-chr3:105379511..105381347,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16851398	1.00[AMR][1000 genomes]
rs16851409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851455	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851557	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851606	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35835913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55804660	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56323302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56405245	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60520841	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995636	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995638	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995651	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995660	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995662	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995690	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995701	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995702	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997617	0.80[AFR][1000 genomes]
rs72997628	1.00[AMR][1000 genomes]
rs7612706	1.00[AMR][1000 genomes]
rs7634544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105368800-105388400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:105368800-105393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:105371400-105382200	Weak transcription	Lung	lung
4	chr3:105372000-105381800	Weak transcription	Pancreas	Pancrea
5	chr3:105372200-105387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:105372400-105388000	Weak transcription	Stomach Mucosa	stomach
7	chr3:105373000-105381800	Weak transcription	Right Ventricle	heart
8	chr3:105373000-105387800	Weak transcription	Gastric	stomach
9	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:105374200-105388400	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:105374200-105392600	Weak transcription	Psoas Muscle	Psoas
15	chr3:105374400-105388000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:105374800-105381000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:105374800-105392800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:105375000-105388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:105375000-105395600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:105375200-105395400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:105375200-105395600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:105375600-105381000	Weak transcription	Aorta	Aorta
23	chr3:105375600-105382800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:105375600-105383600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:105375800-105381200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:105375800-105382800	Strong transcription	Primary T cells from cord blood	blood
27	chr3:105375800-105384200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:105375800-105389200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:105375800-105399000	Weak transcription	Dnd41	blood
30	chr3:105375800-105405000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
32	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
33	chr3:105376000-105381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:105376000-105382800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:105376000-105384200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:105376000-105395600	Weak transcription	Esophagus	oesophagus
37	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:105376200-105381600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:105376200-105383800	Strong transcription	Primary B cells from cord blood	blood
40	chr3:105376200-105383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr3:105376200-105397200	Weak transcription	NHLF	lung
42	chr3:105376400-105395600	Weak transcription	Fetal Brain Male	brain
43	chr3:105376600-105381000	Weak transcription	Fetal Heart	heart
44	chr3:105376600-105381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:105376600-105384000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:105376800-105381200	Strong transcription	Osteobl	bone
47	chr3:105376800-105382600	Strong transcription	Fetal Intestine Large	intestine
48	chr3:105376800-105395400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr3:105377200-105382600	Strong transcription	Fetal Lung	lung

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