Variant report

Variant	rs9895191
Chromosome Location	chr17:17945737-17945738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17944377..17946429-chr17:17996253..17997823,2	K562	blood:
2	chr17:17942903..17946429-chr17:17996253..17997904,3	K562	blood:
3	chr17:17943464..17946446-chr17:17950718..17954584,5	K562	blood:
4	chr17:17740231..17742175-chr17:17944885..17946764,2	MCF-7	breast:
5	chr17:17942253..17945044-chr17:17945539..17948205,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171953	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000141034	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16960878	1.00[EUR][1000 genomes]
rs16962003	1.00[EUR][1000 genomes]
rs28528721	1.00[EUR][1000 genomes]
rs28595155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924818	1.00[EUR][1000 genomes]
rs4924819	1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[EUR][1000 genomes]
rs59754425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502629	0.85[YRI][hapmap]
rs73979203	1.00[EUR][1000 genomes]
rs73979206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979247	0.85[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	1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898044	1.00[EUR][1000 genomes]
rs9899537	1.00[EUR][1000 genomes]
rs9900884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944449	1.00[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17943600-17946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:17943800-17946600	Enhancers	Fetal Brain Male	brain
3	chr17:17944000-17945800	Enhancers	Brain Hippocampus Middle	brain
4	chr17:17944000-17945800	Enhancers	Brain Substantia Nigra	brain
5	chr17:17944000-17948200	Weak transcription	Aorta	Aorta
6	chr17:17944000-17948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:17944200-17945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17944200-17945800	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:17944200-17945800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr17:17944200-17945800	Enhancers	HMEC	breast
13	chr17:17944200-17945800	Enhancers	HSMM	muscle
14	chr17:17944200-17946000	Enhancers	K562	blood
15	chr17:17944200-17947000	Enhancers	Fetal Heart	heart
16	chr17:17944200-17947000	Enhancers	Psoas Muscle	Psoas
17	chr17:17944200-17947400	Weak transcription	Fetal Intestine Small	intestine
18	chr17:17944200-17948000	Weak transcription	Thymus	Thymus
19	chr17:17944200-17948400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:17944200-17948400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:17944200-17948400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr17:17944200-17948600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:17944200-17950400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:17944200-17956000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:17944200-17957200	Weak transcription	NH-A	brain
26	chr17:17944200-17957400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:17944200-17957400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:17944400-17945800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:17944400-17945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:17944400-17945800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr17:17944400-17945800	Enhancers	Hela-S3	cervix
33	chr17:17944400-17945800	Enhancers	Osteobl	bone
34	chr17:17944400-17946200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:17944400-17946200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr17:17944400-17946400	Enhancers	Brain Angular Gyrus	brain
37	chr17:17944400-17946600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:17944400-17947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:17944400-17947200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:17944400-17947400	Weak transcription	Primary T cells from cord blood	blood
41	chr17:17944400-17947400	Weak transcription	Fetal Stomach	stomach
42	chr17:17944400-17948200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:17944400-17948400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:17944400-17948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:17944400-17948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:17944400-17948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:17944400-17948800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:17944400-17949400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:17944400-17949400	Weak transcription	Colonic Mucosa	Colon
50	chr17:17944400-17949400	Weak transcription	Fetal Intestine Large	intestine

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