Variant report

Variant	rs242242
Chromosome Location	chr17:17247414-17247415
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17246028..17248518-chr17:17472091..17473626,2	MCF-7	breast:
2	chr17:17245147..17248050-chr17:17256253..17257972,2	MCF-7	breast:
3	chr17:17246510..17248413-chr17:17250507..17252486,2	MCF-7	breast:
4	chr17:17244661..17247753-chr17:17248969..17251580,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11867932	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961564	0.80[EUR][1000 genomes]
rs171394	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242244	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985764	1.00[ASN][1000 genomes]
rs7220829	1.00[ASN][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	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv960382	chr17:17231433-17252299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
2	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
4	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
7	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
8	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:17229400-17247800	Weak transcription	Fetal Intestine Small	intestine
13	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
14	chr17:17230000-17250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:17230200-17250600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:17230200-17252200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
18	chr17:17231600-17247800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:17234200-17251200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:17236200-17253800	Weak transcription	Spleen	Spleen
21	chr17:17244200-17252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:17244400-17247800	Enhancers	Fetal Heart	heart
23	chr17:17244600-17251000	Strong transcription	Fetal Stomach	stomach
24	chr17:17244600-17255200	Weak transcription	Esophagus	oesophagus
25	chr17:17244800-17250800	Strong transcription	Fetal Brain Female	brain
26	chr17:17245400-17248600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:17245800-17250600	Strong transcription	Brain Germinal Matrix	brain
28	chr17:17246000-17248000	Enhancers	Gastric	stomach
29	chr17:17246000-17250600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:17246200-17247600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:17246200-17248600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:17246400-17255400	Weak transcription	Ovary	ovary
33	chr17:17246400-17257800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:17246400-17258000	Weak transcription	Dnd41	blood
35	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
36	chr17:17246600-17247800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:17246600-17255200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:17246800-17247600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:17247000-17247800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:17247000-17248000	Enhancers	HepG2	liver
41	chr17:17247200-17247600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr17:17247400-17247600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:17247400-17247800	Genic enhancers	Fetal Muscle Leg	muscle
44	chr17:17247400-17248800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr17:17247400-17252200	Weak transcription	Placenta Amnion	Placenta Amnion

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