Variant report

Variant	rs7225468
Chromosome Location	chr17:20811618-20811619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs7209102	1.00[AFR][1000 genomes]
rs7210256	1.00[AFR][1000 genomes]
rs7214997	0.83[AFR][1000 genomes]
rs7219565	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7226350	1.00[AFR][1000 genomes]
rs8066790	1.00[YRI][hapmap]
rs8074652	1.00[YRI][hapmap]
rs8078689	1.00[YRI][hapmap]
rs9909789	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
5	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20801800-20812200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:20804200-20811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:20810000-20812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:20810200-20812600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20811000-20811800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:20811000-20811800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:20811000-20811800	Enhancers	Esophagus	oesophagus
8	chr17:20811200-20812000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:20811200-20812200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:20811200-20812200	Active TSS	Colonic Mucosa	Colon
11	chr17:20811200-20812200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr17:20811200-20812200	Active TSS	Hela-S3	cervix
13	chr17:20811200-20812200	Active TSS	K562	blood
14	chr17:20811200-20812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:20811200-20812400	Active TSS	Stomach Smooth Muscle	stomach
16	chr17:20811400-20811800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:20811400-20811800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr17:20811400-20812000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:20811400-20812000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr17:20811400-20812000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:20811400-20812000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr17:20811400-20812000	Active TSS	Osteobl	bone
23	chr17:20811400-20812200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr17:20811400-20812200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:20811400-20812200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr17:20811400-20812200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:20811400-20812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:20811400-20812200	Active TSS	Brain Angular Gyrus	brain
29	chr17:20811400-20812200	Active TSS	Brain Cingulate Gyrus	brain
30	chr17:20811400-20812200	Active TSS	Brain Hippocampus Middle	brain
31	chr17:20811400-20812200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:20811400-20812200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr17:20811400-20812200	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr17:20811400-20812200	Active TSS	Fetal Stomach	stomach
35	chr17:20811400-20812200	Active TSS	Pancreas	Pancrea
36	chr17:20811400-20812200	Active TSS	Rectal Smooth Muscle	rectum
37	chr17:20811400-20812200	Active TSS	NHDF-Ad	bronchial
38	chr17:20811400-20812400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr17:20811400-20812400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr17:20811400-20812400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:20811400-20812400	Active TSS	Fetal Brain Female	brain
42	chr17:20811400-20812400	Active TSS	Fetal Intestine Small	intestine
43	chr17:20811400-20812400	Active TSS	Psoas Muscle	Psoas
44	chr17:20811400-20812400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr17:20811400-20812400	Active TSS	Right Ventricle	heart
46	chr17:20811400-20812400	Enhancers	Small Intestine	intestine
47	chr17:20811400-20812600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr17:20811400-20812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:20811400-20812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:20811400-20812600	Active TSS	Brain Anterior Caudate	brain

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