Variant report

Variant	rs9910488
Chromosome Location	chr17:17808049-17808050
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	chr17:17806459..17808232-chr17:17813568..17815974,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16960878	1.00[EUR][1000 genomes]
rs16961971	1.00[EUR][1000 genomes]
rs16961993	1.00[EUR][1000 genomes]
rs16962003	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28528721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28595155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924814	1.00[EUR][1000 genomes]
rs4924815	1.00[EUR][1000 genomes]
rs4924816	1.00[EUR][1000 genomes]
rs4924818	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4924819	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4925107	1.00[EUR][1000 genomes]
rs4925111	1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[EUR][1000 genomes]
rs59064231	1.00[EUR][1000 genomes]
rs59531660	1.00[EUR][1000 genomes]
rs59754425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60492230	1.00[EUR][1000 genomes]
rs73295666	1.00[EUR][1000 genomes]
rs73979203	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73979206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979247	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981070	1.00[EUR][1000 genomes]
rs73981075	1.00[EUR][1000 genomes]
rs73981078	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7405940	1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898044	1.00[EUR][1000 genomes]
rs9899537	1.00[EUR][1000 genomes]
rs9900884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944449	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS 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	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
3	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:17801200-17817200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:17802400-17817000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:17802600-17808200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:17802600-17817600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
12	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:17802800-17808200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:17802800-17812400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:17803000-17810200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:17803200-17808800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:17804600-17808200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:17804600-17810000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:17804600-17810400	Weak transcription	Fetal Brain Male	brain
20	chr17:17804800-17808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:17804800-17810000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:17804800-17810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:17804800-17814000	Weak transcription	Fetal Thymus	thymus
24	chr17:17804800-17814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:17805000-17808200	Weak transcription	Brain Hippocampus Middle	brain
26	chr17:17805000-17808200	Genic enhancers	Fetal Muscle Leg	muscle
27	chr17:17805000-17808200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:17805000-17808400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr17:17805000-17809800	Weak transcription	HUVEC	blood vessel
30	chr17:17805000-17810000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:17805000-17810000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:17805000-17810400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:17805000-17813400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:17805000-17817400	Weak transcription	Small Intestine	intestine
35	chr17:17805200-17809600	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:17805200-17809600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:17805200-17809800	Weak transcription	Brain Anterior Caudate	brain
38	chr17:17805200-17809800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:17805200-17810000	Weak transcription	Colonic Mucosa	Colon
40	chr17:17805200-17810000	Strong transcription	Fetal Stomach	stomach
41	chr17:17805200-17810200	Weak transcription	NH-A	brain
42	chr17:17805600-17810400	Strong transcription	Thymus	Thymus
43	chr17:17806000-17809400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:17806000-17809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:17806000-17810200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:17806000-17811400	Strong transcription	Primary T cells from cord blood	blood
47	chr17:17806000-17814400	Weak transcription	Stomach Mucosa	stomach
48	chr17:17806200-17810000	Weak transcription	HMEC	breast
49	chr17:17806400-17809800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:17806400-17809800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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