Variant report

Variant	rs2271521
Chromosome Location	chr17:17034828-17034829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17034791-17034923	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17022152..17024534-chr17:17033092..17034855,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12601193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12601424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12601453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12602675	0.81[EUR][1000 genomes]
rs16961340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961396	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292528	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744126	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803762	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826304	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4078534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41319048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502557	0.88[ASN][1000 genomes]
rs8069241	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8072214	0.87[EUR][1000 genomes]
rs8076621	0.87[EUR][1000 genomes]
rs9908728	0.81[ASN][1000 genomes]
rs9909107	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:17024400-17039800	Weak transcription	Small Intestine	intestine
5	chr17:17024600-17036000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:17027400-17042400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:17027400-17043000	Strong transcription	NHEK	skin
9	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17028000-17038200	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr17:17028200-17036600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr17:17029000-17035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:17029400-17035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17029800-17035400	Genic enhancers	Right Ventricle	heart
15	chr17:17029800-17043400	Strong transcription	NHLF	lung
16	chr17:17029800-17044200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:17029800-17088400	Strong transcription	Dnd41	blood
18	chr17:17030000-17041800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:17030000-17042800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:17030000-17042800	Strong transcription	A549	lung
21	chr17:17030000-17043200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:17030000-17043200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:17030000-17043600	Strong transcription	Esophagus	oesophagus
24	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr17:17030200-17035200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:17030200-17035600	Strong transcription	Aorta	Aorta
29	chr17:17030200-17037000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:17030200-17037400	Strong transcription	Colon Smooth Muscle	Colon
31	chr17:17030200-17037400	Strong transcription	Rectal Smooth Muscle	rectum
32	chr17:17030200-17037800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:17030200-17042800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr17:17030200-17043800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr17:17030400-17035000	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr17:17030400-17035200	Weak transcription	Fetal Brain Male	brain
39	chr17:17030400-17038800	Genic enhancers	Brain Hippocampus Middle	brain
40	chr17:17030400-17043800	Strong transcription	Adipose Nuclei	Adipose
41	chr17:17030400-17044800	Strong transcription	Primary B cells from cord blood	blood
42	chr17:17030400-17047600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
46	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
48	chr17:17030600-17035000	Strong transcription	Brain Germinal Matrix	brain
49	chr17:17030600-17040600	Genic enhancers	Brain Anterior Caudate	brain
50	chr17:17030600-17042800	Strong transcription	Osteobl	bone

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