Variant report

Variant	rs58485196
Chromosome Location	chr17:19730336-19730337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs157389	0.85[AFR][1000 genomes]
rs157395	0.92[AFR][1000 genomes]
rs157400	0.92[AFR][1000 genomes]
rs157409	0.92[AFR][1000 genomes]
rs184006	0.85[AFR][1000 genomes]
rs281350	0.92[AFR][1000 genomes]
rs281352	0.92[AFR][1000 genomes]
rs281354	0.82[AFR][1000 genomes]
rs73295821	1.00[AFR][1000 genomes]
rs73295858	1.00[AFR][1000 genomes]
rs73295867	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:106 , 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	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
3	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
4	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
5	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:19701000-19743200	Weak transcription	Gastric	stomach
7	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
9	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
11	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
12	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
13	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
15	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:19705200-19733200	Weak transcription	HMEC	breast
18	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:19712600-19742400	Weak transcription	Fetal Kidney	kidney
21	chr17:19712600-19748400	Weak transcription	Fetal Brain Male	brain
22	chr17:19716400-19737000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:19717200-19736000	Strong transcription	Adipose Nuclei	Adipose
24	chr17:19722800-19730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:19724200-19749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:19725800-19731000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:19726800-19732200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:19727400-19735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:19727400-19743200	Weak transcription	Osteobl	bone
31	chr17:19727400-19747600	Weak transcription	NHLF	lung
32	chr17:19727400-19749000	Weak transcription	Aorta	Aorta
33	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:19727600-19735600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr17:19727600-19737800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:19727600-19749000	Weak transcription	Fetal Thymus	thymus
37	chr17:19727600-19749600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:19727800-19734000	Weak transcription	Fetal Intestine Small	intestine
39	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:19728000-19753800	Weak transcription	Thymus	Thymus
41	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
42	chr17:19728200-19732200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:19728200-19734800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:19728200-19769800	Weak transcription	HSMM	muscle
45	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
46	chr17:19728400-19732400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:19728400-19735000	Weak transcription	Ovary	ovary
48	chr17:19728400-19735800	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:19728400-19745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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