Variant report

Variant	rs7220829
Chromosome Location	chr17:17228809-17228810
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	chr17:17205995..17209793-chr17:17228137..17230862,4	MCF-7	breast:
2	chr17:17228475..17230243-chr17:17230448..17232701,2	K562	blood:

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11867932	1.00[ASN][1000 genomes]
rs171394	1.00[ASN][1000 genomes]
rs242242	1.00[ASN][1000 genomes]
rs242244	1.00[ASN][1000 genomes]
rs4985764	1.00[ASN][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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	esv3321712	chr17:17228427-17233225	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17229600	Weak transcription	Adipose Nuclei	Adipose
4	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
6	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
7	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:17212400-17229000	Weak transcription	Fetal Brain Male	brain
9	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:17215400-17229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
13	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:17217000-17229600	Weak transcription	Gastric	stomach
15	chr17:17217000-17231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
18	chr17:17219000-17231400	Weak transcription	K562	blood
19	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:17223600-17230200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
22	chr17:17225400-17229800	Strong transcription	Thymus	Thymus
23	chr17:17225400-17230000	Strong transcription	Brain Germinal Matrix	brain
24	chr17:17225400-17230200	Strong transcription	Brain Anterior Caudate	brain
25	chr17:17225600-17230200	Strong transcription	Fetal Stomach	stomach
26	chr17:17225800-17230000	Strong transcription	Fetal Brain Female	brain
27	chr17:17226000-17229400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:17226000-17230000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:17226000-17230200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:17226000-17230200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr17:17226000-17235600	Weak transcription	Spleen	Spleen
32	chr17:17226200-17232000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr17:17226400-17229400	Strong transcription	Fetal Intestine Small	intestine
34	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
35	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:17227200-17229000	Weak transcription	Brain Angular Gyrus	brain
37	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:17227600-17230400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr17:17228000-17229000	Strong transcription	Dnd41	blood
40	chr17:17228000-17229200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr17:17228000-17229600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17228000-17229800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:17228000-17230000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:17228000-17230200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr17:17228000-17230200	Strong transcription	Ovary	ovary
46	chr17:17228000-17230200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr17:17228200-17229200	Strong transcription	Brain Hippocampus Middle	brain
48	chr17:17228200-17229200	Enhancers	HSMMtube	muscle
49	chr17:17228200-17229400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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