Variant report

Variant	rs2291189
Chromosome Location	chr17:33592621-33592622
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	chr17:33590873..33592676-chr17:33596811..33598691,2	K562	blood:
2	chr17:33584170..33586552-chr17:33590950..33592801,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12942605	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71381426	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71381427	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9897359	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	esv2422399	chr17:33539240-33618601	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33572400-33593800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:33578000-33595800	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr17:33581400-33593200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:33581400-33601000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:33581600-33593000	Weak transcription	Brain Angular Gyrus	brain
6	chr17:33581600-33595200	Weak transcription	Brain Anterior Caudate	brain
7	chr17:33582600-33601000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33583000-33593600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:33583800-33594800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:33583800-33596000	Strong transcription	Thymus	Thymus
11	chr17:33584600-33593600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr17:33584600-33594000	Strong transcription	HSMMtube	muscle
13	chr17:33584600-33594000	Strong transcription	NHEK	skin
14	chr17:33584600-33598000	Strong transcription	Fetal Thymus	thymus
15	chr17:33584800-33594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:33584800-33595000	Strong transcription	HSMM	muscle
17	chr17:33584800-33596000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:33585000-33593800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:33585000-33594200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:33585000-33595200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:33585000-33595400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr17:33585000-33595600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:33585000-33598000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:33585200-33594400	Strong transcription	Osteobl	bone
25	chr17:33585200-33595400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:33585200-33595800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:33585200-33596200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:33585400-33595200	Strong transcription	Adipose Nuclei	Adipose
29	chr17:33585600-33593400	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:33585800-33593600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:33585800-33593600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:33586000-33593400	Strong transcription	Left Ventricle	heart
33	chr17:33586400-33594200	Weak transcription	Fetal Kidney	kidney
34	chr17:33586400-33597000	Weak transcription	Fetal Brain Male	brain
35	chr17:33586600-33593600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:33586600-33594000	Weak transcription	Brain Substantia Nigra	brain
37	chr17:33586800-33593400	Strong transcription	Lung	lung
38	chr17:33587400-33594600	Weak transcription	Stomach Mucosa	stomach
39	chr17:33587800-33593400	Strong transcription	Ovary	ovary
40	chr17:33587800-33593600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr17:33588000-33593000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:33588000-33593400	Strong transcription	Spleen	Spleen
43	chr17:33588000-33593800	Strong transcription	Fetal Stomach	stomach
44	chr17:33588000-33594400	Weak transcription	Fetal Intestine Large	intestine
45	chr17:33588000-33596000	Weak transcription	Fetal Intestine Small	intestine
46	chr17:33588400-33594000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:33588400-33594400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:33588800-33593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:33589000-33593200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr17:33589000-33594200	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links