Variant report

Variant	rs60693525
Chromosome Location	chr17:19704301-19704302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs62636609	1.00[AFR][1000 genomes]
rs7221728	0.94[AFR][1000 genomes]
rs7222910	1.00[AFR][1000 genomes]
rs73295805	0.93[AFR][1000 genomes]
rs73295819	0.94[AFR][1000 genomes]
rs73295836	0.94[AFR][1000 genomes]
rs73295848	0.94[AFR][1000 genomes]
rs73295864	0.94[AFR][1000 genomes]
rs73295879	0.94[AFR][1000 genomes]
rs73295882	0.94[AFR][1000 genomes]
rs73312743	1.00[AFR][1000 genomes]
rs8073641	0.83[AFR][1000 genomes]
rs8078025	1.00[AFR][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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19680000-19726800	Weak transcription	NHLF	lung
4	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
5	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:19691000-19705200	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:19696200-19707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:19696600-19705200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:19696800-19708600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:19697000-19704400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr17:19698000-19707400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:19698000-19709400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:19699000-19704800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:19700200-19704400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:19700200-19722600	Weak transcription	Esophagus	oesophagus
16	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
17	chr17:19700400-19705200	Strong transcription	Brain Anterior Caudate	brain
18	chr17:19700400-19705200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
20	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
21	chr17:19700600-19706200	Strong transcription	Fetal Intestine Large	intestine
22	chr17:19700600-19708400	Strong transcription	Primary T cells from cord blood	blood
23	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
24	chr17:19701000-19704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:19701000-19704800	Weak transcription	Brain Substantia Nigra	brain
26	chr17:19701000-19705000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr17:19701000-19705200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:19701000-19705200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:19701000-19707000	Weak transcription	A549	lung
30	chr17:19701000-19707600	Strong transcription	Fetal Brain Female	brain
31	chr17:19701000-19708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:19701000-19710800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:19701000-19726600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:19701000-19726800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:19701000-19727000	Weak transcription	Thymus	Thymus
36	chr17:19701000-19728000	Weak transcription	HUVEC	blood vessel
37	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr17:19701000-19743200	Weak transcription	Gastric	stomach
40	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
42	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
44	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
45	chr17:19701200-19706000	Weak transcription	Fetal Kidney	kidney
46	chr17:19701200-19710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:19701200-19710400	Weak transcription	Pancreas	Pancrea
48	chr17:19701200-19710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:19701200-19711800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine

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